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Journal articles on the topic 'Polymorphism'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Pradhan, Devina, Tarang Mehta, Arpita Srivastava, et al. "Evaluation of the Importance of Genetic Polymorphisms in Genes Expressing Cancer-Metabolizing Enzymes (Cyp1a1 and Gstm1) in Oral Submucous Fibrosis." Journal of Pharmacy and Bioallied Sciences 16, Suppl 3 (2024): S2785—S2787. http://dx.doi.org/10.4103/jpbs.jpbs_413_24.

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ABSTRACT Background: Genetic polymorphisms are common and contribute significantly to human illnesses. Aim: This study was carried out to evaluate the importance of genetic variations in the genes expressing cancer-metabolizing enzymes (CYP1A1 and GSTM1) in individuals experiencing oral submucous fibrosis (OSMF). Methods and Materials: Based on the clinical and histological characteristics of OSMF, 40 patients were chosen for the study; 10 of these patients had considerable polymorphism and malignant transformation; therefore, they were placed in a different group. After receiving written agre

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Ventriglio, A., A. Petito, A. Gentile, et al. "Pharmacodynamic targets of psychotic patients treated with a long-acting therapy." European Psychiatry 41, S1 (2017): S366—S367. http://dx.doi.org/10.1016/j.eurpsy.2017.02.370.

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IntroductionGiven the poor compliance of schizofrenic patients to antipsychotic therapies, are been developed drugs in long-acting formulation that for their pharmacokinetic ensures prolonged therapeutic activities. Currently, we consider that their efficacy depends on hereditary tracts, influencing both pharmacodynamic and pharmacokinetic parameters.ObjectiveInvestigate relationships between clinical efficacy and genetic polymorphims of long-acting drugs’ pharmacodynamic targets.MethodsSeventy-eight psychotic patients, treated with atypical long-acting antipsychotics (olanzapine pamoate, pali

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Dakota, Iwan, Muhamad Fajri Adda’i, Rido Maulana, Ignatius Ivan, Renan Sukmawan, and Bambang Widyantoro. "Association between vitamin D receptor gene polymorphism and essential hypertension: An updated systematic review, meta-analysis, and meta-regression." PLOS ONE 19, no. 12 (2024): e0314886. https://doi.org/10.1371/journal.pone.0314886.

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The association between Vitamin D Receptor (VDR) gene polymorphisms and essential hypertension (EH) remains controversial. We searched databases (Cochrane Library, EBSCO, EMBASE, LILACS, ProQuest, PubMed, Science Direct, Springer) for studies on VDR gene polymorphisms and EH until May 30, 2024, following PRISMA guidelines. RevMan 5.4.1 provided pooled odds ratio (OR) under Hardy-Weinberg Equilibrium based on allele, additive, dominant, and recessive genetic models. Meta-regression was performed using Comprehensive Meta Analysis V3. Twenty-two studies from thirteen countries were analyzed. The

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Katagiri, Seiichiro, Tetsuzo Tauchi, Tomohiro Umezu, et al. "High Frequencies Of Switching To 2nd TKIs and Failure To Maintain Standard Imatinib Dose In Japanese CML Patients With BIM Genetic Variants." Blood 122, no. 21 (2013): 4021. http://dx.doi.org/10.1182/blood.v122.21.4021.4021.

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Abstract Recently, it has been demonstrated that the proapoptotic protein BIM showed a deletion polymorphism at exon 3 in eastern Asian population, and some CML patients with the BIM deletion polymorphism are resistant to imatinib treatment (Ng et al. Nature Medicine, 2012). More recently, a BIM single nucleotide polymorphism (SNP) at exon 8 (c465C>T) has also been found in French CML patients and this SNP is associated with not only imatinib resistance but also the presence of BCR-ABL mutations (Mahon et al. ASH abstract, 2012). We aimed to investigate a possible association between such g

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Kulig, Hanna, Marek Kmieć, and Katarzyna Wojdak-Maksymiec. "Associations between Leptin Gene Polymorphisms and Somatic Cell Count in Milk of Jersey Cows." Acta Veterinaria Brno 79, no. 2 (2010): 237–42. http://dx.doi.org/10.2754/avb201079020237.

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A total of 181 Jersey cows were used to investigate how leptin gene polymorphisms affect somatic cell count (SCC) in milk. Three single nucleotide polymorphisms were genotyped, namely the R4C polymorphism in exon 2, the Sau3AI polymorphism in intron 2 and the A59V polymorphism in exon 3. The genotype and allele frequencies for each polymorphism and the haplotype frequencies for all polymorphisms were estimated in the herd under study. Statistical analysis revealed that the R4C and Sau3AI polymorphisms significantly affected SCC (P &#x2AAC 0.01) with C and T as a desirable allele, respectiv

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Dib, Azza, Hanan Hijazi, Hana Hammoud, and Yasmeen Obeid. "Investigation of the Effect of Two Major eNOS Polymorphisms (4a/b and T786C) on Coronary Artery Disease in North Lebanon." International Research Journal of Multidisciplinary Scope 06, no. 01 (2025): 641–51. https://doi.org/10.47857/irjms.2025.v06i01.02762.

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Endothelial nitric oxide synthase is a crucial gene associated with coronary artery disease, owing to the important functions of nitric oxide in vessel protection and vasodilation. Three “Single Nucleotide Polymorphisms” were found to be significantly associated with CAD: ‘the 4a/b polymorphism in intron 4’, ‘G894T (GLU298ASP) in exon 7’, and ‘the T786C replacement in the flanking region’. This study aimed to explore the relationship between the '4a/b polymorphism of the eNOS gene', the 'T786C polymorphism of the eNOS gene', and 'the combined effect of both 4a/b and T786C' with the risk of CAD

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Sugawara, T., E. Nomura, T. Sagawa, N. Sakuragi, and S. Fujimoto. "CYP1A1 polymorphism and risk of gynecological malignancy in Japan." International Journal of Gynecologic Cancer 13, no. 6 (2003): 785–90. http://dx.doi.org/10.1136/ijgc-00009577-200311000-00009.

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The incidence of endometrial cancer and ovarian cancer in Japan has been increasing in recent years. Results of epidemiologic studies suggest that the onset and multiplication of these cancers are associated with estrogen. Estrogens are metabolized by cytochrome P450 1A1 (CYP1A1) and converted into catecholestrogens, which are carcinogens. CYP1A1 has several polymorphisms, the major one being T6235C transition in the non-coding 3′-flanking region (MspI polymorphism), and another being A4889G transition in exon 7 (Ile/Val polymorphism). These polymorphisms can affect the metabolites of estrogen

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SCHMIDT, KLAUS, and ANATOLY VERSHIK. "Algebraic polymorphisms." Ergodic Theory and Dynamical Systems 28, no. 2 (2008): 633–42. http://dx.doi.org/10.1017/s0143385707001022.

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AbstractIn this paper we consider a special class of polymorphisms with invariant measure, the algebraic polymorphisms of compact groups. A general polymorphism is—by definition—a many-valued map with invariant measure, and the conjugate operator of a polymorphism is a Markov operator (i.e. a positive operator on L2 of norm 1 which preserves the constants). In the algebraic case a polymorphism is a correspondence in the sense of algebraic geometry, but here we investigate it from a dynamical point of view. The most important examples are the algebraic polymorphisms of a torus, where we introdu

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Fitriyani, Hilda, Delyuzar, and Hidayat. "Identification of CYP1A1 Gene Polymorphism in Squamous Cell Carcinoma and Cervical Adenocarcinoma." Majalah Patologi Indonesia 29, no. 2 (2020): 65–70. http://dx.doi.org/10.55816/mpi.v29i2.410.

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BackgroundCervical cancer is the third most common cancer in women with risk factor of smoking, high parity, long term use of oralcontaception that are associated with chemical carcinogenesis. Chemical carcinogenesis require biotransfor-mation of lipophilicsubstrates to hydrophilic metabolites, therefore facilitating their secretion from the human body. Cytochrome P450 (CYP) is one ofgenes that have important role in this process. Benzo[α]pyrene and estrogen have a common biotransformation process which ismetabolized by CYP, particularly CYP1A1. The objectives to identify the frequency and dis

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Farhanah, Nur, Muhammad Hussein Gasem та Sultana MH Faradz. "Polymorphisms of TLR4 Asp299Gly and TNF-α -308G/A in Leptospirosis". Journal of Biomedicine and Translational Research 2, № 1 (2016): 17. http://dx.doi.org/10.14710/jbtr.v2i1.580.

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AbstractBackground : TLR4 Asp299Gly and TNF-α -308G/A polymorphisms have been shown to be associated with increased susceptibility and severity of infection. TLR4 Asp299Gly polymorphism could affect the host’s ability to respond to leptospira sp. TNF-α -308G/A polymorphism, is associated with the high producer of TNF-α.Methods : Total of 36 leptospirosis patients (IgM anti leptospira and MAT positive) and healthy individual with the equal number were included. The polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using site spesific

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Taneja, Nancy, Rajesh Khadagawat, and Shalini Mani. "BSMI AND TAQI POLYMORPHISMS IN VITAMIN D RECEPTOR GENE OF TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA." Asian Journal of Pharmaceutical and Clinical Research 9, no. 9 (2016): 186. http://dx.doi.org/10.22159/ajpcr.2016.v9s3.14875.

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ABSTRACTObjective: Polymorphisms in vitamin D receptor (VDR) genes are known to be linked with different metabolic diseases including Type 2 diabetesmellitus (T2DM) also. However, the association of these polymorphisms is not much explored for the Indian population. To determine the prevalenceof BsmI and TaqI polymorphism in VDR gene of T2DM patients from North India.Methods: Blood samples were obtained from 100 well-characterized T2DM patients and 100 healthy controls. Genomic DNA was isolated from bloodsamples and using polymerase chain reaction/restriction fragment length polymorphism based

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Horst-Sikorska, Wanda, Magdalena Ignaszak-Szczepaniak, Michalina Marcinkowska, Marta Kaczmarek, Malgorzata Stajgis, and Ryszard Slomski. "Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves' disease." Acta Biochimica Polonica 55, no. 2 (2008): 371–80. http://dx.doi.org/10.18388/abp.2008_3085.

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Graves' (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and FokI may predispose women with Graves' hyperthyroidism to BMD reduction or to disease development. The subjects were 75 premenopausal female Polish patients with GD and 163 healthy women. The genotyping was performed by

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Matsumoto, Y., A. Suzuki, N. Shibuya, et al. "Association study between glucocorticoid receptor polymorphisms and personality traits in healthy subjects." European Psychiatry 26, S2 (2011): 809. http://dx.doi.org/10.1016/s0924-9338(11)72514-7.

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AimsPrevious studies have shown that the function of hypothalamic-pituitary-adrenal (HPA) axis is involved in the characterization of personality traits. Glucocorticoid receptor (GR) is the most important regulator of the HPA axis negative feedback system, and several polymorphisms of the GR gene are associated with altered glucocorticoid sensitivity. In the present study, we examined the associations between the GR polymorphisms and personality traits in healthy subjects.MethodsSubjects were 880 Japanese healthy volunteers. Personality traits were assessed by the Temperament and Character Inv

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Baranova, N. I., L. A. Ashchina, O. A. Kulieva, and A. I. Bolgova. "The association of cytokine gene polymorphisms with the development and course of COVID-19." Journal Infectology 17, no. 1 (2025): 36–45. https://doi.org/10.22625/2072-6732-2025-17-1-36-45.

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Objective: to study polymorphic variants of IL-2 (T330G), IL-10 (A592C), IL-6 (rs180795), INF a/b receptor (rs9984273), INFL4 (rs368234815), INFL3 (rs12979860), INF-γ (rs2430561) genes in COVID-19 patients to determine the risk of development and severity of the disease.Materials and methods: genetic analysis of the studied gene polymorphisms was performed in 172 patients with COVID-19 (group 1 – with mild, group 2 – with moderate and group 3 – with severe and extremely severe degrees of severity). The control group consisted of 40 healthy donors. Statistical processing of the obtained results

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Moura, Katia Franco, Mauro Haidar, Claudio Bonduki, et al. "Frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low bone mineral density." Sao Paulo Medical Journal 132, no. 1 (2014): 36–40. http://dx.doi.org/10.1590/1516-3180.2014.1321566.

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CONTEXT AND OBJECTIVE: Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD). Studies have shown that some of the genetic components relating to lower BMD may be detected by polymorphisms. Our aim was to evaluate the frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low BMD. DESIGN AND SETTING: Cross-sectional study, conducted in a public university in São Paulo, Brazil. METHODS : We evaluated interleukin-6 (IL-6), progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) polymorphisms in 110

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Albarawi, Dilan J., Amer A. Balatay, and Nasir Al-Allawi. "HBG2 -158 (C>T) polymorphism and its contribution to fetal hemoglobin variability in Iraqi Kurds with beta-thalassemia minor." Journal of Laboratory Physicians 10, no. 04 (2018): 370–73. http://dx.doi.org/10.4103/jlp.jlp_22_18.

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ABSTRACT PURPOSE: Hemoglobin (Hb) F% is increased in up to half of beta-thalassemia (β-thal) carriers. Several polymorphisms have been linked to such variability in different populations, including HBG2 - 158(C>T) (Xmn I polymorphism) on chromosome 11. To determine the role of this polymorphism in such variability among Iraqi Kurds, the current study was initiated. MATERIALS AND METHODS: A total of 102 consecutive patients diagnosed as β-thal minor were enrolled. The enrollees had their diagnosis based on peripheral blood counts and high-performance liquid chromatography to determine HbA2 a

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Kumagai, Hiroshi, Eri Miyamoto-Mikami, Mizuki Takaragawa, et al. "Genetic polymorphisms in CYP19A1 and ESR1 are associated with serum CK activity after prolonged running in men." Journal of Applied Physiology 132, no. 4 (2022): 966–73. http://dx.doi.org/10.1152/japplphysiol.00374.2021.

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Men with the TT genotype of the CYP19A1 polymorphism exhibited higher circulating estradiol levels than the TC + CC genotype. The TT genotype in the CYP19A1 polymorphism and the C allele of the ESR1 polymorphism, an allele increasing ESR1 expression, were associated with low serum CK activity after the ultramarathon. A combination of these polymorphisms was correlated with changes in the serum CK activity. Therefore, estrogen-related genetic polymorphisms partially predict exercise-induced muscle damage, that is, skeletal muscle membrane disruption.

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Patel, Shruti R., Kinjal D. Patel, Jayendra B. Patel, Prabhudas S. Patel, and Franky Dhaval Shah. "Association of vitamin D receptor gene polymorphisms with breast cancer risk." Journal of Cancer Research and Therapeutics 19, Suppl 2 (2023): S677—S681. http://dx.doi.org/10.4103/jcrt.jcrt_60_22.

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ABSTRACTS Background: Recent literature suggests that vitamin D signaling has a protective effect against breast cancer risk. Thus, the aim of the present study was to find the association of vitamin D receptor (VDR) gene polymorphisms with breast cancer risk. Materials and Methods: Fok1, Bsm1, Apa1, and Taq1 polymorphisms were performed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method, and Poly A polymorphism was carried out using PCR-SSCP in 140 breast cancer patients and 155 controls. Results: Odds ratio was significantly higher in both homozygous var

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Yan, Xiaofei, Yuzhen Wei, Dan Wang, et al. "Four common vitamin D receptor polymorphisms and coronary artery disease susceptibility: A trial sequential analysis." PLOS ONE 17, no. 10 (2022): e0275368. http://dx.doi.org/10.1371/journal.pone.0275368.

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Background Studies on the susceptibility of vitamin D receptor (VDR) polymorphisms to coronary artery disease (CAD) reached controversial results. We performed this study for a more accurate evaluation between the VDR polymorphisms and CAD susceptibility. Methods PubMed, Embase, CNKI, Wan Fang, and VIP databases were searched. The odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to evaluate the associations. Trial sequential analysis (TSA) was introduced to estimate the positive associations. The potential functions of the VDR polymorphisms were analyzed based on the SNPinfo

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Guzmán-Ornelas, Milton-Omar, Marcelo Heron Petri, Mónica Vázquez-Del Mercado, et al. "CCL2 Serum Levels and Adiposity Are Associated with the Polymorphic Phenotypes -2518A on CCL2 and 64ILE on CCR2 in a Mexican Population with Insulin Resistance." Journal of Diabetes Research 2016 (2016): 1–11. http://dx.doi.org/10.1155/2016/5675739.

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Genetic susceptibility has been described in insulin resistance (IR). Chemokine (C-C motif) ligand-2 (CCL2) is overexpressed in white adipose tissue and is the ligand of C-C motif receptor-2 (CCR2). TheCCL2G-2518A polymorphism is known to regulate gene expression, whereas the physiological effects of theCCR2Val64Ile polymorphism are unknown. The aim of the study is to investigate the relationship between these polymorphisms with soluble CCL2 levels (sCCL2), metabolic markers, and adiposity. In a cross-sectional study we included 380 Mexican-Mestizo individuals, classified with IR according to

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Cordeiro, Quirino, Ricardo Noguti, Cássio M. C. Bottino, and Homero Vallada. "Study of association between genetic polymorphisms of phospholipase A2 enzymes and Alzheimer's disease." Arquivos de Neuro-Psiquiatria 68, no. 2 (2010): 189–93. http://dx.doi.org/10.1590/s0004-282x2010000200007.

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Several genes have been related to late-onset Alzheimer's disease (LOAD). Phospholipases A2 (PLA2) influence the processing and secretion of the amyloid precursor protein, which gives rise to the beta-amyloid peptide, the major component of the amyloid plaque in AD. Hence, in the present study, polymorphisms of three genes encoding PLA2 enzymes group (cytosolic PLA2: BanI cPLA2 polymorphism; calcium-independent PLA2: AvrII iPLA2 polymorphism; PAFAH: Val279Phe PAFAH polymorphism) were analysed in a case-control sample using 58 patients with LOAD and 107 matched healthy controls. There was a gen

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Trush, E. A., A. E. Karchevskaya, R. V. Maslennikov, E. A. Poluektova, O. S. Shifrin, and V. T. Ivashkin. "Single Nucleotide Polymorphisms, Associated with Increased Risk of Irritable Bowel Syndrome with Predominant Constipation: A Meta Analysis." Russian Journal of Gastroenterology, Hepatology, Coloproctology 34, no. 3 (2024): 62–77. http://dx.doi.org/10.22416/1382-4376-2024-34-3-62-77.

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Introduction. Genetic predisposition in combination with environmental factors and the patient’s psychological and emotional state play a key role in the development of irritable bowel syndrome (IBS). Studies of association between genetic polymorphisms and IBS can help in understanding the key pathophysiological mechanisms. To date, 11 meta-analyses on this issue have been published, however, none of them comprehensively summarize the data on the prevalence of genetic polymorphisms in IBS with predominant constipation (IBS-C).Aim: to summarize the published data on the impact of genetic polym

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Aidinidou, L., A. Chatzikyriakidou, A. Giannopoulos, et al. "Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients." Balkan Journal of Medical Genetics 24, no. 1 (2021): 15–20. http://dx.doi.org/10.2478/bjmg-2021-0014.

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Abstract Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (–94ins/ delATTG), rs28362491, NKX2-

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Zhang, Guoqiang, and Maohe Jin. "Genetic associations between CYP24A1 polymorphisms and predisposition of cancer: A meta-analysis." International Journal of Biological Markers 35, no. 4 (2020): 71–79. http://dx.doi.org/10.1177/1724600820944408.

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Background: CYP24A1 polymorphisms may affect predisposition of cancer, but the results of published studies remain inconclusive. Therefore, the authors conducted this meta-analysis to more robustly assess relationships between CYP24A1 polymorphisms and the predisposition of cancer by pooling the findings of published studies. Materials and methods: A comprehensive literature search of PubMed, Embase, Web of Science, Wanfang, and CNKI was endorsed by the authors to identify eligible studies; 17 studies were finally found to be eligible for pooled meta-analysis. Results: The pooled meta-analysis

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Lukitasari, Mifetika, Ahmad Hamim Sadewa, and Mohammad Saifur Rohman. "ABO Gene Polymorphism and Thrombomodulin −33G>A Polymorphism Were Not Risk Factors for Myocardial Infarction in Javanese Men." International Journal of Vascular Medicine 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/2943467.

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Genetic factors contribute to about a half of coronary artery diseases. During the last several decades, some studies suggested that non-O blood group and thrombomodulin polymorphism −33G>A are the risk factors of coronary artery disease especially in Asia. There was no prior study in Indonesia regarding this issue. Hence, this study was designed to investigate the correlation of ABO polymorphism and thrombomodulin polymorphism −33G>A with the incidence of acute myocardial infarction (AMI). A total of 192 subjects were enrolled in this case control study. AMI patients were diagnosed base

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Traspov, AA, MM Minashkin, SV Poyarkov, et al. "The rs17713054 and rs1800629 polymorphisms of genes LZTFL1 and TNF are associated with COVID-19 severity." Bulletin of Russian State Medical University, no. 2022(6) (December 2022): 92–97. http://dx.doi.org/10.24075/brsmu.2022.065.

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Both genetic and non-genetic factors are responsible for high interindividual variability in response to SARS-CoV-2. Despite the fact that multiple genetic polymorphisms have been identified as risk factors of severe COVID-19, such polymorphisms are still insufficiently studied in the Russian population. The study was aimed to identify genetic determinants associated with severe COVID-19 in the sample of patients from the Russian Federation. The correlation of the rs17713054 polymorphism in gene LZTFL1 and rs1800629 polymorphism in gene TNF (tumor necrosis factor) with the COVID-19 severity wa

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Sorokina, E. Yu, N. N. Denisova, and E. E. Keshabyants. "Frequency of occurrence of genetic polymorphisms associated with sports success in elite athletes in team sports." Sports medicine: research and practice 11, no. 1 (2021): 5–10. http://dx.doi.org/10.47529/2223-2524.2021.1.11.

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Objective: to evaluate the frequency of occurrence of polymorphisms rs1815739 (ACTN3 gene), rs2016520 (PPARD gene), rs1042713 (ADRB2 gene), rs1799945 (HFE gene) in athletes of highperformance sports.Materials and methods: genotyping was performed using allelespecific amplification with realtime detection of the results and using TaqMan probes.Results: a higher frequency of alleles associated with endurance was found: the t allele of the rs1815739 polymorphism (ACTN3 gene), the g allele of the rs2016520 polymorphism (PPARD gene), the g allele of the rs1042713 polymorphism (ADRB2 gene), and t

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Shu, Yi, Youping Chen, Haizhao Luo, et al. "The Roles of IL-10 Gene Polymorphisms in Diabetes Mellitus and Their Associated Complications: A Meta-Analysis." Hormone and Metabolic Research 50, no. 11 (2018): 811–15. http://dx.doi.org/10.1055/a-0651-5051.

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AbstractThe roles of interleukin-10 (IL-10) gene polymorphisms in diabetes mellitus (DM) have been intensively analyzed earlier, but the results of these studies were conflicting. Hence, we performed this study to better assess the relationship between IL-10 genetic variations and DM. Eligible studies were searched in PubMed, Medline, Embase, and Web of Science. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess correlations between IL-10 polymorphisms and DM. A total of 32 studies were finally included in our analyses. Significant associations with the risk of DM were d

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Vidigal, Verônica Marques, Tiago Donizetti Silva, Juliana de Oliveira, Célia Aparecida Marques Pimenta, Aledson Vitor Felipe, and Nora Manoukian Forones. "Genetic Polymorphisms of Vitamin D Receptor (VDR), CYP27B1 and CYP24A1 Genes and the Risk of Colorectal Cancer." International Journal of Biological Markers 32, no. 2 (2017): 224–30. http://dx.doi.org/10.5301/jbm.5000248.

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Introduction Vitamin D receptor (VDR) and proteins encoded by the genes CYP27B2 and CYP24A1 involved in the production and inactivation of vitamin D can influence vitamin D and the susceptibility to colorectal cancer (CRC). The objective of this study was to investigate the relationship between the risk of CRC and polymorphisms in VDR, CYP27B1 and CYP24A1, lifestyle and dietary habits. Methods The study included 152 patients with CRC and 321 controls. All participants answered a questionnaire on their dietary habits, alcohol consumption and smoking habits. DNA was extracted from peripheral blo

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KIM, HYOUN-AH, HYE-YOUNG CHUN, SEUNG-HYUN KIM, HAE-SIM PARK, and CHANG-HEE SUH. "C-Reactive Protein Gene Polymorphisms in Disease Susceptibility and Clinical Manifestations of Korean Systemic Lupus Erythematosus." Journal of Rheumatology 36, no. 10 (2009): 2238–43. http://dx.doi.org/10.3899/jrheum.090243.

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Objective.C-reactive protein (CRP) is a sensitive marker of inflammation. It is hypothesized that polymorphism of CRP gene contributes to susceptibility to systemic lupus erythematosus (SLE). We tested this hypothesis by identifying CRP gene polymorphisms in Korean patients with SLE.Methods.Approximately 1.5 kb of CRP promoter region was screened for single nucleotide polymorphism (SNP) using direct sequencing and 3 SNP in CRP exons by restriction fragment length polymorphism. The basal levels of CRP were measured by immunoturbidimetry. The effect of −390 C>A or T polymorphism on the promot

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Özturan Şirin, Ayçıl, and Yasemin Akdevelioğlu. "The relationship of energy-restricted diet with FTO and MC4R gene polymorphism in patients with polycystic ovary syndrome." Cukurova Medical Journal 49, no. 3 (2024): 580–91. http://dx.doi.org/10.17826/cumj.1447513.

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Purpose: The aim of this study was to determine whether the effects of an energy-restricted diet on overweight/obese patients with PCOS on body composition and biochemical parameters in groups with MC4R rs17782313 and FTO rs9939609 polymorphisms differ from those without gene polymorphism. Materials and Methods: A total of 48 women aged 18-45 were accepted. An 8-week diet intervention was applied, and anthropometric measurements, biochemical parameters and food consumption of the patients were determined before and after the intervention. In addition, FTO gene rs9939609 and MC4R gene rs1778231

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Čítek, J., L. Hanusová, M. Brzáková, L. Večerek, L. Panicke, and L. Lískovcová. "Associations between gene polymorphisms, breeding values, and glucose tolerance test parameters in German Holstein sires." Czech Journal of Animal Science 63, No. 5 (2018): 167–73. http://dx.doi.org/10.17221/8/2017-cjas.

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The association between several gene polymorphisms, the estimated breeding values for milk performance traits, and glucose metabolism measured by the glucose tolerance test (GTT) in German Holstein sires were evaluated. Polymorphisms in DGAT1, GH1, GHR, FASN, and OLR1 genes were not associated with the GTT. A significant relationship was obtained for the DGAT1 AA/GC polymorphism and estimated breeding values for milk performance (milk yield, fat and protein yield, fat and protein percentage). The polymorphism in GHR was significantly associated with estimated breeding values for fat yield, and

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Delluc, Aurélien, Lénaïck Gourhant, Karine Lacut, et al. "Association of common genetic variations and idiopathic venous thromboembolism." Thrombosis and Haemostasis 103, no. 06 (2010): 1161–69. http://dx.doi.org/10.1160/th09-07-0430.

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SummaryVenous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric geno-typing strategy is one of the approaches to explore unexplained associations between risk factors and VTE. It was the objective of this study to evaluate, using a gene-centric genotyping strategy, polymorphisms in genes involved in the following pathways: coagulation cascade process, renin-angiotensin or adrenergic systems, lipid metabolism, platelet aggregation. Allele frequency was compared between 677 cases with idiopathic VTE and their matched con

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Ibrahim, Maryam Sabri, Halah Dawood Salman, Aya Raed Alheany, and Shakir Hammad Al-Alwany. "Association between IL1R1 rs2234650 Polymorphism in Patients with Acute Lymphoblastic Leukemia Infected with HHV-6A." Al-Rafidain Journal of Medical Sciences ( ISSN 2789-3219 ) 8, no. 2 (2025): 16–21. https://doi.org/10.54133/ajms.v8i2.1705.

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Background: Everyone contracts the common infection known as human herpesvirus 6 (HHV-6). Particularly associated with encephalitis, human herpesvirus 6B (HHV-6B) poses a risk of morbidity and death to recipients of allogeneic hematopoietic stem cell transplants. IL-1β and interleukin-1α (IL-1α) are critical for enhancing infection resistance. Objective: To ascertain whether HHV-6A and the IL1R1 rs2234650 gene polymorphism are related and could be risk factors for Iraqi infants developing acute lymphoblastic leukemia (ALL). Methods: This case-control study included 150 blood samples from 100 p

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Atmoko, Widi, Putu Angga Risky Raharja, Ponco Birowo, Agus Rizal Ardy Hariandy Hamid, Akmal Taher, and Nur Rasyid. "Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis." PLOS ONE 16, no. 5 (2021): e0251235. http://dx.doi.org/10.1371/journal.pone.0251235.

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Genetic polymorphisms have been suggested as risk factors affecting the occurrence and recurrence of kidney stones, although findings regarding the latter remain inconclusive. We performed this systematic review and meta-analysis to clarify the associations between genetic polymorphisms and recurrent kidney stones. PubMed, SCOPUS, EMBASE, and Cochrane Library databases were searched through May 28th, 2020 to identify eligible studies. The Quality in prognostic studies (QUIPS) tool was used to evaluate bias risk. Allelic frequencies and different inheritance models were assessed. All analyses w

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Kaldygulova, Lyazzat, Sauran Yerdessov, Talshyn Ukybassova, Yevgeniy Kim, Dinmukhamed Ayaganov, and Andrey Gaiday. "Polymorphism of Folate Metabolism Genes among Ethnic Kazakh Women with Preeclampsia in Kazakhstan: A Descriptive Study." Biology 13, no. 9 (2024): 648. http://dx.doi.org/10.3390/biology13090648.

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Introduction: Preeclampsia is a severe multifactorial complication of pregnancy. Studies found associations between folate metabolism genes’ polymorphisms and preeclampsia. However, investigations in this field are limited among Asian populations. Thus, the study’s aim was to evaluate the prevalence of methionine synthase (MTR), methionine synthase reductase (MTRR), and methylenetetrahydrofolate reductase (MTHFR) genes’ polymorphisms among ethnic Kazakh women with preeclampsia. Methods: This was a retrospective study involving 4246 patients’ data for the period of 2018–2022. Identification of

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Kim, Yeo-Kyeoung, Hee-Je Kim, Woo-Sung Min, et al. "Prognostic Significance of NQO1 Polymorphism and GST-M1 Deletion in De Novo Acute Myeloid Leukemia." Blood 112, no. 11 (2008): 4846. http://dx.doi.org/10.1182/blood.v112.11.4846.4846.

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Abstract Background: Although the most powerful prognostic factor of acute myeloid leukemia (AML) patients is the karyotype of the leukemic blast, data have not been obtained almost entirely in patients with heterogeneous cytogenetics. Further, some patients with favorable cytogenetics may show the poor treatment outcomes. Previous reports suggested that the single nucleotide polymorphisms of genes coding drug detoxification enzymes such as cytochrome P450 family or DNA repair system may influence the treatment outcomes in the patients with AML. We evaluated the role of polymorphisms in XRCC1,

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Zihlif, Malek, Amer Imraish, Baeth Al-Rawashdeh, et al. "The Association of IgE Levels with ADAM33 Genetic Polymorphisms among Asthmatic Patients." Journal of Personalized Medicine 11, no. 5 (2021): 329. http://dx.doi.org/10.3390/jpm11050329.

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Total serum immunoglobulin E (IgE) is elevated in multiple allergic diseases and is considered a good predictor of atopy. Several studies have been performed on the association of IgE levels with the polymorphism of the ADAM33 gene in asthmatic patients. The aim of this study was to determine whether there is an association between IgE levels and the genetic polymorphisms of the ADAM33 gene (T1, T2, T + 1, V4, S1, S2, and Q-1) in both healthy and asthmatic patients among Jordanians. The clinical data were collected for this case–control study from 267 asthmatic patients and 225 control subject

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MIRJALILI, Seyed Alireza, Mansour MOGHIMI, Kazem AGHILI, et al. "ASSOCIATION OF PROMOTER REGION POLYMORPHISMS OF INTERLEUKIN-10 GENE WITH SUSCEPTIBILITY TO COLORECTAL CANCER: A SYSTEMATIC REVIEW AND META-ANALYSIS." Arquivos de Gastroenterologia 55, no. 3 (2018): 306–13. http://dx.doi.org/10.1590/s0004-2803.201800000-66.

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ABSTRACT BACKGROUND: Several epidemiological studies have investigated the association of promoter region polymorphisms of Interleukin-10 (IL-10) gene with colorectal cancer (CRC), while the conclusion is still conflicting and inconclusive. OBJECTIVE: We conducted this meta-analysis to evaluate the association of promoter region polymorphisms of IL-10 with CRC. METHODS: Eligible articles were identified by a search of several bibliographic databases for the period up to March 15, 2018. The strength of the association was measured by odd ratios with 95% confidence intervals. RESULTS: A total of

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Stoltz, Donald B., and Deming Xu. "Polymorphism in polydnavirus genomes." Canadian Journal of Microbiology 36, no. 8 (1990): 538–43. http://dx.doi.org/10.1139/m90-094.

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Polymorphisms were readily detected in polydnavirus DNA extracted from several different species belonging to two different families of parasitic hymenoptera. Heterogeneity was observed as differences in electrophoretic profiles of genome segments, differences in the number of cross-hybridizing genome segments, and restriction fragment length polymorphisms; polymorphism was also detected at the level of an individual genome segment. Some implications drawn from these observations are discussed. Key words: polydnavirus, multipartite genomes, DNA polymorphisms.

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Tuna, A., G. Ozturk, TB Gerceker, et al. "Superoxide dismutase 1 and 2 gene polymorphism in Turkish vitiligo patients." Balkan Journal of Medical Genetics 20, no. 2 (2017): 67–73. http://dx.doi.org/10.1515/bjmg-2017-0033.

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Abstract Vitiligo is an acquired disease of unknown etiology. Several theories have been proposed to understand the pathogenesis. The role of oxidative stress has been getting more important in recent years. One of the primary antioxidant enzymes in vitiligo is the superoxide dismutase (SOD). The aim of this study is to investigate the polymorphisms of the SOD1 and SOD2 in Turkish vitiligo patients. One hundred one vitiligo patients and 99 healthy controls without family history of vitiligo were included into the study. The SOD1 35 A/C and SOD2 A16V (C/T) polymorphisms were analyzed by polymer

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Tsai, Ming-Kai, Hui-Min David Wang, Jeng-Chuan Shiang, et al. "Sequence Variants ofADIPOQand Association with Type 2 Diabetes Mellitus in Taiwan Chinese Han Population." Scientific World Journal 2014 (2014): 1–7. http://dx.doi.org/10.1155/2014/650393.

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Diabetes is a serious global health problem. Large-scale genome-wide association studies identified loci for type 2 diabetes mellitus (T2DM), including adiponectin (ADIPOQ) gene and transcription factor 7-like 2 (TCF7L2), but few studies clarified the effect of genetic polymorphisms ofADIPOQandTCF7L2on risk of T2DM. We attempted to elucidate association between T2DM and polymorphic variations of both in Taiwan’s Chinese Han population, with our retrospective case-control study genotyping single nucleotide polymorphisms (SNPs) inADIPOQandTCF7L2genes both in 149 T2DM patients and in 139 healthy

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Laine, Marja L., Bruno G. Loos, and W. Crielaard. "Gene Polymorphisms in Chronic Periodontitis." International Journal of Dentistry 2010 (2010): 1–22. http://dx.doi.org/10.1155/2010/324719.

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We aimed to conduct a review of the literature for gene polymorphisms associated with chronic periodontitis (CP) susceptibility. A comprehensive search of the literature in English was performed using the keywords: periodontitis, periodontal disease, combined with the words genes, mutation, or polymorphism. Candidate gene polymorphism studies with a case-control design and reported genotype frequencies in CP patients were searched and reviewed. There is growing evidence that polymorphisms in theIL1, IL6, IL10, vitamin D receptor, andCD14genes may be associated with CP in certain populations. H

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Wu, Pei-Liang, Xiao Chun Ling, Eugene Yu-Chuan Kang, et al. "Effects of TIMP-2 Polymorphisms on Retinopathy of Prematurity Risk, Severity, Recurrence, and Treatment Response." International Journal of Molecular Sciences 23, no. 22 (2022): 14199. http://dx.doi.org/10.3390/ijms232214199.

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Tissue inhibitors of metalloproteinases (TIMPs) play a crucial role in endogenous angiogenesis besides the regulation of matrix metalloproteinase (MMP) activity. Associations between TIMP-2 gene polymorphisms and the risk of retinopathy of prematurity (ROP) were examined. Premature infants born between 2009 and 2018 were included. Five single-nucleotide polymorphisms (SNPs) of TIMP-2 were analyzed with real-time polymerase chain reaction (PCR). Multivariate logistic regression was applied to model associations between TIMP-2 polymorphisms and ROP susceptibility and severity. The GA+AA genotype

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XIAO, YANGMING, WEIJING HE, and I. JON RUSSELL. "Genetic Polymorphisms of the ß2-Adrenergic Receptor Relate to Guanosine Protein-coupled Stimulator Receptor Dysfunction in Fibromyalgia Syndrome." Journal of Rheumatology 38, no. 6 (2011): 1095–103. http://dx.doi.org/10.3899/jrheum.101104.

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Objective.To determine the genotype frequencies of ß2-adrenergic receptor (ß2AR) gene polymorphisms (Gly16Arg, Glu27Gln) in patients with fibromyalgia syndrome (FM) by comparison with unrelated healthy controls. We sought any clinical association with these polymorphisms and determined whether the polymorphisms would associate with a biologic guanosine protein-coupled stimulator receptor (Gs) dysfunction in FM.Methods.Study subjects included 97 clinically characterized patients with FM and 59 controls. The ß2AR polymorphisms at codons 16 and 27 were determined using polymerase chain reaction-r

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Celec, Peter, Daniela Ostatníková, Zuzana Holešová, et al. "Spatial Abilities in Prepubertal Intellectually Gifted Boys and Genetic Polymorphisms Related to Testosterone Metabolism." Journal of Psychophysiology 23, no. 1 (2009): 1–6. http://dx.doi.org/10.1027/0269-8803.23.1.1.

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Spatial abilities are known to be related to testosterone levels in men. Polymorphisms of genes related to androgen metabolism, however, have not been previously analyzed in association with spatial abilities. Our study analyzes genetic polymorphisms of androgen receptor (AR), aromatase (CYP19), and 5-alpha reductase (SRD5A2) in relation to mental rotation and spatial visualization in prepubertal intellectually gifted boys. DNA samples of 36 boys with an average age of 10.0 ± 0.7 years and an IQ higher than 130 were isolated from buccal cells in saliva. DNA was subsequently used for amplificat

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Khaled, Bedewy M., Abou Seada M. Noha, Antonios A. M. Manal, and Saleh M. Engy. "Role of Toll-Like Receptors 2 and 4 Genes Polymorphisms in Neonatal Sepsis in a Developing Country: A Pilot Study." Journal of Pediatric Infectious Diseases 15, no. 06 (2020): 276–82. http://dx.doi.org/10.1055/s-0040-1714710.

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Abstract Objective Toll-like receptors (TLR) are one of the key molecules that alert the immune system to the presence of microbial infections. This study attempts to elucidate the role of TLR2 and TLR4 polymorphisms in neonatal sepsis. Methods A case–control study including 30 neonates with confirmed sepsis compared with 20 neonates in a control group. TLR2 and TLR24 gene polymorphisms were confirmed by polymerase chain reaction. Results The majority of infections were attributed to gram-negative organisms (72.5%) namely Klebsiella pneumoniae, Pseudomonas aeruginosa, and Escherichia coli. Res

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Tot, Şenel, M. Emin Erdal, Kemal Yazıcı, Aylin Ertekin Yazıcı, and Özmen Metin. "T102C and –1438 G/A polymorphisms of the 5-HT2A receptor gene in Turkish patients with obsessive–compulsive disorder." European Psychiatry 18, no. 5 (2003): 249–54. http://dx.doi.org/10.1016/s0924-9338(03)00066-x.

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AbstractObjectiveThis study aimed to investigate the possible association between T102C and –1438 G/A polymorphism in the 5-HT2A receptor gene and susceptibility to and clinical features of obsessive–compulsive disorder (OCD).MethodFifty-eight patients with OCD and 83 healthy controls were included in the study. All patients were interviewed and rated by Yale-Brown Obsessive–Compulsive Scale. T102C and –1438 G/A polymorphisms of 5-HT2A receptor gene were determined by PCR technique in DNAs of peripheral leucocytes.ResultsOCD patients and healthy controls did not show significant differences in

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Özkan, M., I. Koçyigit, M. Dikilitas, et al. "The impact of genetic factors in the development of thrombosis in cancer patients." Journal of Clinical Oncology 27, no. 15_suppl (2009): e22227-e22227. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22227.

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e22227 Background: Thromboembolism is frequent in patients with cancer. Although it is known that several acquired factors take place in this process, the role of the genetic factors is controversial. In this study we analysed the most common genetic polymorphisms which have a role in the development of thrombosis. Methods: Study population consists of 292 (158 with thrombosis and 134 without thrombosis) patients treated between 2004 and 2008. Thrombosis was diagnosed by clinically and radiological measures in any time during the course of disease. Factor V Leiden G1691A, Prothrombin G20210A,

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Obraztsova, G. I., A. S. Glotov, T. V. Stepanova, T. E. Ivashchenko, and Y. R. Kovalev. "Analysis of polymorphisms of renin-angiotensin system and bradykinin receptor genes in children and adolescents with primary arterial hypertension." "Arterial’naya Gipertenziya" ("Arterial Hypertension") 12, no. 2 (2006): 156–60. http://dx.doi.org/10.18705/1607-419x-2006-12-2-156-160.

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We inspected 179 children and adolescents aged 9-17 years with primary arterial hypertension (AH) and 158 schoolchildren aged 7-17 years. All the hypertensive children underwent 24 hour ABPM. Family history of all the children was studied in particular of cardiovascular diseases. The 19-83G/A polymorphism of renin gene (REN), the M235T polymorphism of the angiotensinogen gene (AGT), the I/D polymorphism of angiotensin converting gene (ACE), the Al 166C polymorphism of angiotensin II type 1 receptor (AGTR1) gene, the C3123A polymorphism of angiotensin II type 2 receptor gene (AGTR2), I/D and T/

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