Log in

Relevant bibliographies by topics / Polymorphisms / Journal articles

To see the other types of publications on this topic, follow the link: Polymorphisms.

Journal articles on the topic 'Polymorphisms'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Polymorphisms.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

2

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

3

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

4

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

5

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

6

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

7

Turgal, Mert, Fatma Gumruk, Ergun Karaagaoglu, and Mehmet Beksac. "Methylenetetrahydrofolate Reductase Polymorphisms and Pregnancy Outcome." Geburtshilfe und Frauenheilkunde 78, no. 09 (2018): 871–78. http://dx.doi.org/10.1055/a-0664-8237.

Full text

Abstract:

Abstract Introduction Aim of the study was to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. Materials and Methods A total of 617 pregnancies of women who were investigated for MTHFR C677T and A1298C polymorphisms prior to pregnancy were included in the study. Cases were classified into “homozygous polymorphisms” (Group I), “heterozygous polymorphisms” (Group II), and patients without polymorphisms who functioned as controls (Group III). Patients with polymorphisms were assigned to a specific protocol at least 3 months before becoming pre

APA, Harvard, Vancouver, ISO, and other styles

8

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

9

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

10

Kuramochi, Hidekazu, Hitoshi Kanno, Tomotaka Uchiyama, Go Nakajima, Kayoko Saito, and Kazuhiko Hayashi. "Comprehensive analysis of genetic polymorphisms and irinotecan-induced adverse events in Japanese gastrointestinal cancer patients: A DMET microarray profiling study." Journal of Clinical Oncology 30, no. 15_suppl (2012): e21108-e21108. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.e21108.

Full text

Abstract:

e21108 Background: Irinotecan is a key drug in the treatment of colorectal and gastric cancer, that may occasionally cause severe adverse events (AEs), especially neutropenia and diarrhea. Although UDP-glucuronosyltransferase (UGT)1A1 polymorphisms are used as biomarkers for predicting AEs, the effect of UGT1A1 polymorphism in clinical use is limited, suggesting that there is a possibility of the existence of other, unknown biomarkers. Methods: Fourteen gastrointestinal cancer (5 gastric, 9 colorectal) patients who had undergone irinotecan-based chemotherapy were enrolled. DNA extracted from p

APA, Harvard, Vancouver, ISO, and other styles

11

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

12

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

13

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

14

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

15

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

16

Luan, Xiaohui, Yuxun Zhou, Wei Wang, et al. "Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls." European Journal of Endocrinology 157, no. 1 (2007): 113–18. http://dx.doi.org/10.1530/eje-07-0061.

Full text

Abstract:

Objective: The kisspeptin/GPR54 pathway has been proven to be crucial in the process of puberty onset, yet the polymorphisms in the KISS1 gene and their relationships with central precocious puberty (CPP) have not been investigated. This study was performed to reveal the relationship between the gene and the disease. Design and Methods: 272 Chinese Han girls diagnosed to be CPP patients were recruited as Case Group I, 43 unrelated African women as Case Group II, and 288 unrelated normal Chinese Han girls as Control Group. Polymorphism scans of the KISS1 gene were performed for the first time b

APA, Harvard, Vancouver, ISO, and other styles

17

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

18

He, Lei, Tao Deng, and He-sheng Luo. "Heat Shock Protein 70 Gene Polymorphisms and Cancer Risk: A Meta-Analysis." Scientific World Journal 2014 (2014): 1–9. http://dx.doi.org/10.1155/2014/540309.

Full text

Abstract:

The polymorphisms in the three main heat shock protein 70 (HSP70-1, HSP70-2, and HSP70-hom) genes were identified to be associated with cancer risk. However, the results are inconsistent. We perform a meta-analysis to evaluate the association between the three HSP70 polymorphisms and cancer risk. Relevant studies were identified using PubMed, Web of Science, Chinese National Knowledge Infrastructure (CNKI), and Wanfang databases up to March 29, 2014. The cancer risk associated with the HSP70 polymorphisms was estimated for each study by odds ratios (OR) together with its 95% confidence interva

APA, Harvard, Vancouver, ISO, and other styles

19

Sufiawati, Irna, Risti Saptarini, and Eriska Riyanti. "HUBUNGAN POLIMORFISME GEN RESEPTOR ESTROGEN ALFA DENGAN JUMLAH SEL T CD4+ PADA ANAK TERINFEKSI HIV." ODONTO : Dental Journal 4, no. 2 (2017): 94. http://dx.doi.org/10.30659/odj.4.2.94-100.

Full text

Abstract:

Background: Estrogen plays a key role in human physiological processes. Polymorphisms of estrogen receptors have been implicated in the development of numerous diseases. The aim of this study was to evaluate the frequency of ERα gene Pvull and Xbal polymorphisms and assessing their association with CD4+ T-cell counts in HIV-infected children on highly active antiretroviral therapy.Methods: CD4+ T cell counts were determined using the FACS count system. ERα PvuII and XbaI polymorphisms were analyzed by PCR-RFLP.Results: This study enrolled 34 HIV-infected children on HAART. The frequencies of t

APA, Harvard, Vancouver, ISO, and other styles

20

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

21

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

22

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

23

Król-Kulikowska, Magdalena, Mirosław Banasik, and Marta Kepinska. "The Effect of Selected Nitric Oxide Synthase Polymorphisms on the Risk of Developing Diabetic Nephropathy." Antioxidants 13, no. 7 (2024): 838. http://dx.doi.org/10.3390/antiox13070838.

Full text

Abstract:

Background: Nitric oxide synthase (NOS) is an enzyme that catalyzes the formation of nitric oxide (NO), the altered production of which is characteristic of diabetic nephropathy. NOS exists in three isoforms: NOS1, NOS2, and NOS3. Moreover, there are reports about the potential role of NOS3 polymorphisms in the development of diabetes complications. The aim of this study was to assess the role of selected NOS polymorphisms—rs3782218 (NOS1), rs1137933 (NOS2), rs1799983, rs2070744, and rs61722009 (NOS3)—in the risk of developing diabetic nephropathy and in the likelihood of renal replacement the

APA, Harvard, Vancouver, ISO, and other styles

24

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.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

25

Jesús Estuardo, Luján Irastorza, Durand Montaño Carlos, Ávila Rebollar Daniela, et al. "Prevalence of TNFa (G308A and G238A) and LTa (A252G) polymorphisms in women with pregnancy loss ? study carried out in a private clinic of Mexico City." Obstetrics & Gynecology International Journal 12, no. 3 (2021): 183–88. http://dx.doi.org/10.15406/ogij.2021.12.00573.

Full text

Abstract:

Background: Tumor necrosis factor (TNF) is a cytokine that includes different types of molecules that participate in cellular and organic responses, and Single Nucleotide Polymorphisms (SNPs) in TNF are associated to the pathogenesis of chronic inflammatory diseases and local or systemic autoimmune diseases. Objective: To know the prevalence of TNFα (G238A and G308A) and LTα (A252G) polymorphisms in a population of Mexican women with pregnancy loss. Materials and methods: This is a retrospective, observational and cross-sectional study of 184 Mexican women, with the aim of evaluating the prese

APA, Harvard, Vancouver, ISO, and other styles

26

Maltais, Isabelle, Magdalena Bachvarova, Pierre Maheux, Patrice Perron, Francois Marceau, and Dimcho Bachvarov. "Bradykinin B2 receptor gene polymorphism is associated with altered urinary albumin/creatinine values in diabetic patients." Canadian Journal of Physiology and Pharmacology 80, no. 4 (2002): 323–27. http://dx.doi.org/10.1139/y02-036.

Full text

Abstract:

Diabetic nephropathy (DN) is an important microvascular complication of both insulin-dependent and non-insulin-dependent diabetes mellitus. Considerable evidence exists that genetic predisposition is a major determinant in the development of DN. Progress in the understanding of the kinin receptor gene expression indicates their relevance in nephrology and renal pathology. In order to investigate whether clinically relevant polymorphisms of the kinin receptor genes contribute to the genetic predetermination of the renal complication of diabetes, we have initiated a retrospective study with a mi

APA, Harvard, Vancouver, ISO, and other styles

27

İnan-Erdoğan, Işıl, Sinem Akgül, Kübra Işgın-Atıcı, et al. "Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa." Journal of Pediatric Endocrinology and Metabolism 32, no. 12 (2019): 1377–84. http://dx.doi.org/10.1515/jpem-2019-0240.

Full text

Abstract:

Abstract Background Anorexia nervosa (AN) is a serious eating disorder that is associated with decreased bone mineral density (BMD) and greater lifetime risk for fractures. The aim of this study was to determine the correlation between BMD and genetic polymorphisms in AN. Methods This case-control study analyzed vitamin D receptor (VDR) (VDRBsml, VDRFokl) and estrogen receptor (ESR) (ESR1Xbal, ESR1Pvull) polymorphisms in 45 adolescents diagnosed with AN and 46 age-matched healthy controls. BMD values of the AN group were classified as low or normal, and polymorphisms were compared between case

APA, Harvard, Vancouver, ISO, and other styles

28

Colzato, Lorenza S., Heleen A. Slagter, Mischa de Rover, and Bernhard Hommel. "Dopamine and the Management of Attentional Resources: Genetic Markers of Striatal D2 Dopamine Predict Individual Differences in the Attentional Blink." Journal of Cognitive Neuroscience 23, no. 11 (2011): 3576–85. http://dx.doi.org/10.1162/jocn_a_00049.

Full text

Abstract:

The attentional blink (AB)—a deficit in reporting the second of two target stimuli presented in close succession in a rapid sequence of distracters—has been related to processing limitations in working memory. Given that dopamine (DA) plays a crucial role working memory, the present study tested whether individual differences in the size of the AB can be predicted by differences in genetic predisposition related to the efficiency of dopaminergic pathways. Polymorphisms related to mesocortical and nigrostriatal dopaminergic pathways were considered, as well as polymorphisms related to norepinep

APA, Harvard, Vancouver, ISO, and other styles

29

Brambila-Tapia, Aniel Jessica Leticia, Jorge Durán-González, Lucila Sandoval-Ramírez, et al. "MTHFR C677T, MTHFR A1298C, and OPG A163G Polymorphisms in Mexican Patients with Rheumatoid Arthritis and Osteoporosis." Disease Markers 32, no. 2 (2012): 109–14. http://dx.doi.org/10.1155/2012/364894.

Full text

Abstract:

MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. The A163G polymorphism inosteoprotegerin(OPG) has been studied in osteoporosis with controversial results. The objective of the present study was to investigate the association(s) among MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis. The femoral neck and lumbar spine bone mineral densities (BMDs) were measured in 71 RA patients, and genotyping for the three polymorphis

APA, Harvard, Vancouver, ISO, and other styles

30

Chang, Qing, Zhong-lin He, Yu-chong Peng, Shi-gang Duan, Yu-xin Dai, and Xiao-hui Zhao. "A meta-analysis of MDR1 polymorphisms rs1128503 and rs1045642 and susceptibility to hepatocellular carcinoma." Journal of International Medical Research 47, no. 7 (2019): 2800–2809. http://dx.doi.org/10.1177/0300060519855869.

Full text

Abstract:

Objective A relationship between polymorphisms rs1128503 and rs1045642 in the multidrug resistance 1 gene ( MDR1) and susceptibility to hepatocellular carcinoma (HCC) has been reported but is inconclusive. This study was performed to explore the significance of MDR1 polymorphisms rs1128503 and rs1045642 in screening and diagnosis of HCC. Methods Studies of association analyses between MDR1 gene polymorphisms rs1128503 and rs1045642 and HCC were selected from three foreign language databases (PubMed, Cochrane, and Embase) and three Chinese databases (Wanfang, China National Knowledge Infrastruc

APA, Harvard, Vancouver, ISO, and other styles

31

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

32

Janowska, Magdalena, Natalia Potocka, Sylwia Paszek, et al. "An Assessment of GPX1 (rs1050450), DIO2 (rs225014) and SEPP1 (rs7579) Gene Polymorphisms in Women with Endometrial Cancer." Genes 13, no. 2 (2022): 188. http://dx.doi.org/10.3390/genes13020188.

Full text

Abstract:

Background: Numerous studies indicate a relationship between the presence of GPX1 (rs1050450), DIO2 (rs225014) and SEPP1 (rs7579) gene polymorphisms and the development of chronic or neoplastic diseases. However, there are no reports on the influence of these polymorphisms on the development of endometrial cancer. Methods: 543 women participated in the study. The study group consisted of 269 patients with diagnosed endometrial cancer. The control group consisted of 274 healthy women. Blood samples were drawn from all the participants. The PCR-RFLP method was used to determine polymorphisms in

APA, Harvard, Vancouver, ISO, and other styles

33

Morandi Aléssio, Aline, Lúcia Helena Siqueira, Egle Cristina Couto de Carvalho, et al. "Estrogen Receptor Alpha and Beta Gene Polymorphisms Are Not Risk Factors for Recurrent Miscarriage in a Brazilian Population." Clinical and Applied Thrombosis/Hemostasis 14, no. 2 (2008): 180–85. http://dx.doi.org/10.1177/1076029607304093.

Full text

Abstract:

The aim of this study was to determine the prevalence of alpha (ESR1: c.454-397T>C and c.454-351A>G) and beta (ESR2: 1082G>A and 1730G>A) estrogen receptor gene polymorphisms in 2 Brazilian ethnic groups (Caucasian, African Brazilian) and to investigate their association with recurrent miscarriage (RM) in 75 women with a history of 3 or more consecutive pregnancy losses and 139 controls with at least 2 live births and no history of pregnancy loss. Polymerase chain reaction and restriction fragment length polymorphism were used to identify gene polymorphisms. Coagulation methods wer

APA, Harvard, Vancouver, ISO, and other styles

34

Ismayilova, Nergiz, Melis Palamar, Huseyin Onay, et al. "Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms." European Journal of Ophthalmology 30, no. 5 (2019): 901–7. http://dx.doi.org/10.1177/1120672119858225.

Full text

Abstract:

Purpose: To investigate vitamin D receptor polymorphisms in ocular surface squamous cell neoplasm and to evaluate the relationship between the identified polymorphisms and susceptibility to ocular surface squamous cell neoplasm and the clinical course. Materials and Methods: A totala of 70 patients with ocular surface squamous cell neoplasm (study group) and 75 healthy age and gender-matched individuals (control group) were included in the study. Vitamin D receptor FokI and BsmI polymorphisms were examined. The relationships between histopathological diagnosis, recurrence rates, tumor stage, a

APA, Harvard, Vancouver, ISO, and other styles

35

Dabre, Soayebo, Abdou Azaque Zoure, Touwendpoulimdé Isabelle Kiendrébéogo, et al. "Involvement of p.R72P and PIN3 Ins16bp (TP53) Polymorphisms and the I157T (CHEK2) Mutation in Breast Cancer Occurrence in Burkina Faso." Asian Pacific Journal of Cancer Biology 8, no. 2 (2023): 135–45. http://dx.doi.org/10.31557/apjcb.2023.8.2.135-145.

Full text

Abstract:

Introduction: The TP53 and CHEK2 genes have been described as breast cancer susceptibility genes and some of their polymorphisms have been associated with an increased risk of breast cancer in certain populations.Aim: The objective of this study was to investigate the p.R72P and PIN3 Ins16bp (TP53) polymorphisms and the I157T (CHEK2) mutation developping of breast cancer. Methods: This case-control study had enrolled 144 participants including 65 cases (breast cancer patients) and 79 controls (women without breast abnormalities) in the city of Ouagadougou in Burkina Faso. The DNA was extracted

APA, Harvard, Vancouver, ISO, and other styles

36

Ignatenko, Grigory A., Natalia A. Reznichenko, Pavel N. Fedulichev, Eduard A. Maylyan, and Zaira F. Kharaeva. "Polymorphisms of genes of interleukin-6 and alpha-1 chain of collagen type 1 in postmenopausal women with knee osteoarthritis." Medical academic journal 23, no. 3 (2024): 31–40. http://dx.doi.org/10.17816/maj375358.

Full text

Abstract:

BACKGROUND: To date in the Russian Federation insufficient attention has been paid to the study of IL6 and COL1A1 gene polymorphisms role in the development of knee osteoarthritis. And the results of the single carried out to date studies, devoted to the research of polymorphic variants of the above genes influence on the osteoarthritis development, are insufficient for substantiated conclusions. AIM: To study the frequency of alleles and genotypes of the IL6 gene rs1800795 polymorphism and COL1A1 gene rs1107946 and rs1800012 polymorphisms in postmenopausal women with knee osteoarthritis

APA, Harvard, Vancouver, ISO, and other styles

37

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

38

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

39

LEE, YOUNG HO, JONG DAE JI, and GWAN GYU SONG. "Association Between Interleukin 1 Polymorphisms and Rheumatoid Arthritis Susceptibility: A Metaanalysis." Journal of Rheumatology 36, no. 1 (2009): 12–15. http://dx.doi.org/10.3899/jrheum.080450.

Full text

Abstract:

Objective.To determine whether interleukin 1 (IL-1) polymorphisms confer susceptibility to rheumatoid arthritis (RA).Methods.We conducted metaanalyses on associations between IL-1 polymorphisms and RA susceptibility, using fixed or random effects models.Results.A total of 18 separate comparisons were made using 10 European, 7 Asian, and 1 Latin American population samples. Metaanalysis of the IL-1B+3954 CC genotype revealed an association with RA in all subjects (odds ratio = 0.776, 95% confidence interval = 0.609–0.988, p = 0.040). In Asians, an association between IL-1B+3954 and RA was ident

APA, Harvard, Vancouver, ISO, and other styles

40

Kuessel, Lorenz, Christoph Grimm, Martin Knöfler, et al. "Common Oxytocin Receptor Gene Polymorphisms and the Risk for Preterm Birth." Disease Markers 34, no. 1 (2013): 51–56. http://dx.doi.org/10.1155/2013/798914.

Full text

Abstract:

Oxytocin is crucially involved in the onset and maintenance of labor. We investigated the association between oxytocin receptor gene polymorphisms and preterm birth. The presence of four common oxytocin receptor gene polymorphisms (rs2254298, rs53576, rs2228485 and rs237911) was evaluated in one hundred women with preterm birth and one hundred healthy women using restriction fragment length polymorphism genotyping. No association was found between the presence of any individual oxytocin receptor gene polymorphism and preterm birth. In haplotype analysis, the haplotype combination of rs2254298

APA, Harvard, Vancouver, ISO, and other styles

41

Angelova, Lyudmila, Maria Tsvetkova, and Mariya Levkova. "CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE." Journal of IMAB - Annual Proceeding (Scientific Papers) 27, no. 4 (2021): 4133–38. http://dx.doi.org/10.5272/jimab.2021274.4133.

Full text

Abstract:

Chromosomal polymorphism is described as normal variants at chromosomal regions with no impact on the phenotype but a possible correlation to infertility and recurrent spontaneous abortions. The aim of this study was to evaluate the effect of the chromosomal polymorphisms involved in families with reproductive failures in the Bulgarian population. Material and methods: A total of 1733 patients with unexplained reproductive failures who visited the Laboratory of Medical Genetics – Varna, Bulgaria, (2004 - 2019) were investigated by conventional cytogenetic analysis GTG and CBG differential band

APA, Harvard, Vancouver, ISO, and other styles

42

Gao, Yue, Qingbo Wang, Junhua Wu, et al. "Interactions Between BMP2/BMP4 Gene Polymorphisms and Fluoride Exposure on Essential Hypertension: A Cross-Sectional Study in China." Toxics 13, no. 2 (2025): 126. https://doi.org/10.3390/toxics13020126.

Full text

Abstract:

(1) Objective: To evaluate the relationship between fluoride exposure, interactions of BMP2/BMP4 gene polymorphisms, and fluoride exposure on essential hypertension. (2) Methods: A cross-sectional study was conducted among 725 participants in a high-fluoride region of Shanxi Province, China. Urinary fluoride concentrations were measured as indicators of fluoride exposure. Hypertension was diagnosed based on standard guidelines. BMP2 (rs1005464) and BMP4 (rs17563) polymorphisms were genotyped. Logistic regression and interaction models were performed to evaluate associations and interactions be

APA, Harvard, Vancouver, ISO, and other styles

43

Krishna, B., Samir Jana, Aditya Panda та ін. "Association of TGF-β1 Polymorphisms with Breast Cancer Risk: A Meta-Analysis of Case–Control Studies". Cancers 12, № 2 (2020): 471. http://dx.doi.org/10.3390/cancers12020471.

Full text

Abstract:

Reports on the association of TGF-β1 polymorphisms with breast cancer (BC) have been conflicting, inconsistent, inconclusive, and controversial. PubMed, EMBASE, and Google Scholar were used to identify studies on TGF-β1 polymorphisms and BC risk. Data were extracted independently, and of the initial 3043 studies, 39 case-control studies were eligible for inclusion in the meta-analysis. Information from these studies was extracted, and the overall associations of three TGF-β1 polymorphisms (TGF-β1 29>T/C, TGF-β1-509 C/T, and TGF-β1*6A) with BC risk were analyzed using overall allele, homozyg

APA, Harvard, Vancouver, ISO, and other styles

44

Lee, Hwa-Young, Rhee-Hun Kang, Sang-Woo Han, et al. "Association of glucocorticoid receptor polymorphisms with the susceptibility to major depressive disorder and treatment responses in Korean depressive patients." Acta Neuropsychiatrica 21, no. 1 (2009): 11–17. http://dx.doi.org/10.1111/j.1601-5215.2008.00342.x.

Full text

Abstract:

Objective:Major depressive disorder (MDD) is closely related to stress reactions and serotonin probably underpins the pathophysiology of MDD. Alterations of the hypothalamic-pituitary-adrenal axis at the gene level have reciprocal consequences on serotonin neurotransmission. Glucocorticoid receptor (GR) polymorphisms affect glucocorticoid sensitivity, which is associated with cortisol feedback effects. Therefore, we hypothesised that GR polymorphisms are associated with the susceptibility to MDD and predict the treatment response.Method:Ninety-six subjects with a minimum score of 17 on the 21-

APA, Harvard, Vancouver, ISO, and other styles

45

Zhou, Xiaoyang, Jianfeng Huang, Jianhong Chen, Shaoyong Su, Runsheng Chen, and Dongfeng Gu. "Haplotype analysis of the matrix metalloproteinase 3 gene and myocardial infarction in a Chinese Han population." Thrombosis and Haemostasis 92, no. 10 (2004): 867–73. http://dx.doi.org/10.1160/th04-03-0192.

Full text

Abstract:

SummaryMatrix metalloproteinase (MMP) 3 plays an important role in the pathogenesis of myocardial infarction (MI). Up to now, there has been conflicting data regarding the possible contribution of the MMP3 -1612 5A/6A promoter polymorphism to MI. In this study, we have investigated the possible association of three polymorphisms (-1612 5A/6A, -376C/G, Glu45Lys) in the MMP3 gene with MI in a Chinese Han population. The polymorphisms were analyzed in 509 patients with MI, and in 518 healthy controls. The frequency of the 5A allele was 14% in the healthy controls, which is less than in Western po

APA, Harvard, Vancouver, ISO, and other styles

46

Veiga, Luísa, José Silva-Nunes, Alice Melão, Ana Oliveira, Leone Duarte, and Miguel Brito. "Q192R polymorphism of the paraoxonase-1 gene as a risk factor for obesity in Portuguese women." European Journal of Endocrinology 164, no. 2 (2011): 213–18. http://dx.doi.org/10.1530/eje-10-0825.

Full text

Abstract:

IntroductionObesity became a major public health problem as a result of its increasing prevalence worldwide. Paraoxonase-1 (PON1) is an esterase able to protect membranes and lipoproteins from oxidative modifications. At the PON1 gene, several polymorphisms in the promoter and coding regions have been identified. The aims of this study were i) to assess PON1 L55M and Q192R polymorphisms as a risk factor for obesity in women; ii) to compare PON1 activity according to the expression of each allele in L55M and Q192R polymorphisms; iii) to compare PON1 activity between obese and normal-weight wome

APA, Harvard, Vancouver, ISO, and other styles

47

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

48

Binaei, Saeed, Sahar M. Rashed та Michael L. Christensen. "β2-Adrenoreceptor Polymorphisms in Asthmatic Patients". Journal of Pediatric Pharmacology and Therapeutics 8, № 1 (2003): 22–28. http://dx.doi.org/10.5863/1551-6776-8.1.22.

Full text

Abstract:

β2-adrenergic receptors (β2AR) are GTP-binding protein (G-protein) coupled receptors widely distributed in human tissue. Inhaled β2-agonist drugs exert their primary effect on the β2AR of bronchial smooth muscles, causing relaxation and bronchial dilatation. Polymorphisms in the β2AR gene have been identified, which may affect responsiveness to β2-agonists and disease severity in asthmatics. Nine single nucleotide polymorphisms (SNPs) within the coding region and eight SNPs within in the 5′ upstream region of the β2AR gene have been identified. The two most studied polymorphisms are mutations

APA, Harvard, Vancouver, ISO, and other styles

49

Aniulis, Povilas, Aurelija Podlipskyte, Alina Smalinskiene, Rosita Aniuliene, and Mindaugas Jievaltas. "Association of gene polymorphisms with women urinary incontinence." Open Medicine 16, no. 1 (2021): 1190–97. http://dx.doi.org/10.1515/med-2021-0332.

Full text

Abstract:

Abstract Aim of study was set to investigate the association of women urinary incontinence (UI) with serotonin receptor HTR2A T102C and beta 3-adrenergic receptor ADRB3 Trp64Arg genes polymorphisms. The study included 110 women with Urge, Stress, and Mixed UI types and the control group – 105 continent women. Both groups have filled in the ICIQ-FLUTS questionnaire and their blood genotyping was performed. Urge UI subgroup was older and had higher body mass index (BMI) in comparison to other UI types and control group. More than half of all women had family history of UI in Stress UI and Mixed

APA, Harvard, Vancouver, ISO, and other styles

50

Cakina, Suat, Ozgul Ocak, Adile Ozkan, Selma Yucel, and Handan Isin Ozisik Karaman. "Vitamin D receptor gene polymorphisms in multiple sclerosis disease: A case-control study." Revista Romana de Medicina de Laborator 26, no. 4 (2018): 489–95. http://dx.doi.org/10.2478/rrlm-2018-0028.

Full text

Abstract:

Abstract Multiple sclerosis (MS) is a common neurologic disorder that is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Its etiology remains unknown. Several recent studies have found that decreased susceptibility to vitamin D deficiency is also associated with a decreased risk of MS. The role of vitamin D receptor (VDR) gene and its polymorphisms are highlighted as susceptible components. In this study, we aimed to identify the relationship between ApaI (rs7975232), BsmI (rs 1544410), and TaqI (rs731236) gene polymorphisms with MS. Ap

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!