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Статті в журналах з теми "Genetic polymorphisms"

Автор: Grafiati

Опубліковано: 4 червня 2021

Оновлено: 25 липня 2025

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1

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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2

Siddique, Imad, K. Scott Brimble, Louise Walkin, et al. "Genetic Polymorphisms and Peritoneal Membrane Function." Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 35, no. 5 (2015): 517–29. http://dx.doi.org/10.3747/pdi.2014.00049.

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BackgroundOutcomes for peritoneal dialysis (PD) patients are affected by the characteristics of the peritoneal membrane, which may be determined by genetic variants. We carried out a systematic review of the literature to identify studies which assessed the association between genetic polymorphisms, peritoneal membrane solute transport, and clinical outcomes for PD patients.MethodsThe National Library of Medicine was searched using a variety of strategies. Studies which met our inclusion criteria were reviewed and data abstracted. Our outcomes of interest included: high transport status perito

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3

Verloop, Herman, Olaf M. Dekkers, Robin P. Peeters, Jan W. Schoones, and Johannes W. A. Smit. "GENETICS IN ENDOCRINOLOGY: Genetic variation in deiodinases: a systematic review of potential clinical effects in humans." European Journal of Endocrinology 171, no. 3 (2014): R123—R135. http://dx.doi.org/10.1530/eje-14-0302.

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Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymor

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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.

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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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5

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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6

Somberg, John C. "Genetic Polymorphisms." American Journal of Therapeutics 9, no. 4 (2002): 271. http://dx.doi.org/10.1097/00045391-200207000-00001.

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7

Muiño, Elena, Jurek Krupinski, Caty Carrera, Cristina Gallego-Fabrega, Joan Montaner, and Israel Fernández-Cadenas. "An Inflammatory Polymorphisms Risk Scoring System for the Differentiation of Ischemic Stroke Subtypes." Mediators of Inflammation 2015 (2015): 1–7. http://dx.doi.org/10.1155/2015/569714.

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Inflammation has been associated with atherothrombotic stroke and recently with cardioembolic stroke. Different genetic risk factors have been specifically associated with the subtypes of ischemic stroke (cardioembolic, atherothrombotic, and lacunar). However, there are no studies that have generated genetic risk scores for the different subtypes of ischemic stroke using polymorphisms associated with inflammation.Methods.We have analyzed 68 polymorphisms of 30 inflammatory mediator genes in 2,685 subjects: 1,987 stroke cases and 698 controls. We generated a genetic scoring system with the most

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8

Ataniyazov, Xurshid, Xurshid Fozilov Фозилов, Gulnoz Xamidullayeva, and G. Abdullaeva. "Orol dengizi mintaqasidagi arterial gipertenziyaning molekulyar-genetik xususiyatlari." CARDIOLOGY OF UZBEKISTAN 1, no. 3 (2025): 152–59. https://doi.org/10.70626/3060-4850-2024-1-3-152-159.

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Background. Arterial hypertension (AH) is a complex, multifactorial disease that significantly contributes to cardiovascular diseases. It is particularly prevalent in the Aral Sea region, where both genetic and environmental factors play a crucial role. This study focuses on the molecular-genetic characteristics of AH in the population of this region. Materials and methods. The study was conducted on 1020 patients aged 40-70 years, diagnosed with AH at the Ellikkala District Medical Association in the Republic of Karakalpakstan. Genetic analysis was performed on 407 AH patients to identify pol

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9

Makowska-Kaczmarska, Marzena, Anna Okoń, and Elżbieta Olszewska. "Role of polymorphism of the interleukin-1B gene and other genetic polymorphisms in the aetiology of root resorption in patients receiving orthodontic treatment." Forum Ortodontyczne 13, no. 1 (2017): 36–42. http://dx.doi.org/10.5604/01.3001.0010.2604.

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Aim. The aim of the work was to present the latest directions in the research on gene polymorphisms in the global population and to discuss their potential role in the pathogenesis of root resorption during orthodontic treatment. Material and methods. A review of the literature in Polish and English from the years 1990–2015 was conducted using PubMed/MEDLINE databases and the results of studies kept in the database of the National Centre for Biotechnology Information were used. Key words used: genetics of root resorption, genetic polymorphism, interleukin-1B. Results. 19 articles were analysed

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10

Kasyanov, E. D., T. V. Zhilyaeva, and G. E. Maso. "Association of affective disorders and MTHFR, MTR, and MTRR gene polymorphisms: preliminary results of a family study." Neurology, Neuropsychiatry, Psychosomatics 14, no. 5 (2022): 13–21. http://dx.doi.org/10.14412/2074-2711-2022-5-13-21.

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Genetic polymorphisms associated with impaired one-carbon metabolism (1-CM) can be a risk factor not only for somatic and neurological diseases, but also for affective disorders (AD).Objective: to compare the frequency of genetic polymorphisms MTHFR, MTR, MTRR associated with 1-CM disorders among patients with AD, their blood relatives and healthy individuals.Patients and methods. This cross-sectional study of the frequency of genetic polymorphisms (MTHFR, MTR, MTRR) associated with 1-CM included patients with AD (n=24), their blood relatives (n=40), as well as a group of healthy individuals (

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11

Simmonds, Rachel, José Hermida, Suely Rezende, and David Lane. "Haemostatic Genetic Risk Factors in Arterial Thrombosis." Thrombosis and Haemostasis 86, no. 07 (2001): 374–85. http://dx.doi.org/10.1055/s-0037-1616235.

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SummaryHaemostasis plays an integral role in arterial thrombotic disease. However, establishing which of the factors are risk factors has proven surprisingly difficult. Because of its technical simplicity and digital nature, the study of haemostatic polymorphisms as risk factors has grown in popularity. Once established as a risk factor, a genetic polymorphism has the potential to aid selective prophylaxis and therapy of disease. Numerous reports have now been published on polymorphisms of coagulation and fibrinolytic factors, of coagulation and fibrinolytic inhibitory proteins, and of platele

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12

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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13

KISELEVA, T. A., F. V. VALEEVA, D. R. ISLAMOVA, and M. S. MEDVEDEVA. "Genetic aspects of type 2 diabetes mellitus." Practical medicine 21, no. 3 (2023): 14–18. http://dx.doi.org/10.32000/2072-1757-2023-3-14-18.

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Type 2 diabetes mellitus (DM2) is a polygenic, multifactorial disease resulting from the interaction of genetic, epigenetic and environmental factors. Given the significant genetic and genomic research in this area, the role of genetic factors in the pathogenesis of DM2 is becoming increasingly clear. The review presents current information in the genetics of DM2, describes the technology of genome wide-associated system (GWAS) based on high-resolution biochips for the simultaneous analysis of thousands of genetic variants in a large number of patients. Due to the use of genome-wide studies, a

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14

Bouchet, Valérie, Heather Huot, and Richard Goldstein. "Molecular Genetic Basis of Ribotyping." Clinical Microbiology Reviews 21, no. 2 (2008): 262–73. http://dx.doi.org/10.1128/cmr.00026-07.

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SUMMARY Nearly 2,000 ribotyping-based studies exist, ranging from epidemiology to phylogeny and taxonomy. None precisely reveals the molecular genetic basis, with many incorrectly attributing detected polymorphisms to rRNA gene sequences. Based on in silico genomics, we demonstrate that ribotype polymorphisms result from sequence variability in neutral housekeeping genes flanking rRNA operons, with rRNA gene sequences serving solely as conserved, flank-linked tags. We also reveal that from such an informatics perspective, it is readily feasible a priori to design an interpretable ribotyping sc

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15

Kotowska, Katarzyna, Bartosz Wojciuk, Jerzy Sieńko, et al. "The Role of Vitamin D Metabolism Genes and Their Genomic Background in Shaping Cyclosporine A Dosage Parameters after Kidney Transplantation." Journal of Clinical Medicine 13, no. 16 (2024): 4966. http://dx.doi.org/10.3390/jcm13164966.

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Background: Kidney transplantation is followed by immunosuppressive therapy involving calcineurin inhibitors (CNIs) such as cyclosporin A. However, long-term high CNIs doses can lead to vitamin D deficiency, and genetic variations influencing vitamin D levels can indirectly impact the necessary CNIs dosage. This study investigates the impact of genetic variations of vitamin D binding protein (DBP) rs2282679 and CYP2R1 hydroxylase rs10741657 polymorphisms on the cyclosporin A dosage in kidney transplant recipients. Additional polymorphisims of genes that are predicted to influence the pharmacog

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16

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.

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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

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17

Matsuo, Hitoshi, Tomonori Segawa, Sachiro Watanabe, et al. "Assessment of genetic risk for myocardial infarction." Thrombosis and Haemostasis 96, no. 08 (2006): 220–27. http://dx.doi.org/10.1160/th06-02-0117.

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SummaryAlthough lifestyle and environmental factors influence the prevalence of myocardial infarction, genetic epidemiological studies have suggested that several genetic variants increase the risk for this condition. We have performeda large-scale association study to identify gene polymorphisms for reliable assessment of the genetic risk of myocardial infarction. The study population comprised 3,483 unrelated Japanese individuals (1,913 men; 1,570 women), including 1,192 subjects with myocardial infarction and 2,291 controls. The genotypes for 164 polymorphisms of 137 candidate genes were de

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18

Kobayashi, T., T. Nagata, S. Murakami, et al. "Genetic Risk Factors for Periodontitis in a Japanese Population." Journal of Dental Research 88, no. 12 (2009): 1137–41. http://dx.doi.org/10.1177/0022034509350037.

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Genetic variants at multiple loci have been shown to be associated with susceptibility to periodontitis. To better assess the genetic risk factors for periodontitis, we performed a case-control study in 319 Japanese individuals with periodontitis (172 aggressive and 147 chronic disease) and 303 race-matched healthy control individuals. Thirty-five functional gene polymorphisms that had been previously associated with immune responses were genotyped. For all gene polymorphisms tested, no significant differences were observed in the allele frequencies of persons with aggressive, chronic, and com

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19

Sorokina, E. Yu, A. V. Pogozheva, and D. B. Nikityuk. "Study of the association of gene polymorphism with the risk of non-communicable diseases in martial artists." Sports medicine: research and practice 11, no. 2 (2021): 25–33. http://dx.doi.org/10.47529/2223-2524.2021.2.5.

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Objective: to study the effect of genetic polymorphisms: rs rs9939609 (FTO gene), rs4994 (ADRB3 gene), rs1042713 (ADRB2 gene), rs2228570 (VDR gene), rs1801133 (MTHFR gene) on anthropometric and lipid metabolism indicators in athletes representing martial arts.Materials and methods: studies of anthropometric and biochemical parameters, genetic polymorphisms were carried out in 120 athletes (101 men and 19 women) who are engaged in martial arts. Anthropometric studies were performed by measuring height (cm), body weight (kg), followed by calculating body mass index (BMI, kg / m2). Biochemical nu

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20

Novaković, Ivana, Nela Maksimović, Slobodan Cvetković, and Dragana Cvetković. "Gene Polymorphisms as Markers of Disease Susceptibility." Journal of Medical Biochemistry 29, no. 3 (2010): 135–38. http://dx.doi.org/10.2478/v10011-010-0022-y.

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Gene Polymorphisms as Markers of Disease SusceptibilityThe most widespread diseases of modern man have a polygenic basis, including genetic predisposition and factors in the external environment. Such is the case with cardiovascular disease, malignancy, diabetes and so on. It should be borne in mind that risk factors usually include disorders that are themselves multifactorial, which further indicates the complexity of pathophysiological mechanisms. In the investigation of genetic factors in polygenic diseases studies are underway to determine the association with specific gene polymorphisms.

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Miguita, K., Q. Cordeiro, R. G. Shavitt, E. C. Miguel, and H. Vallada. "Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment." Arquivos de Neuro-Psiquiatria 69, no. 2b (2011): 283–87. http://dx.doi.org/10.1590/s0004-282x2011000300003.

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In the present paper, we investigated the 5HTTLPR and STin2 polymorphisms in the promoter region of the serotonin transporter gene (SLC6A4), the G861C polymorphism (rs6296) of the serotonin receptor 1D beta (HTR1B), the T102C (rs6113) and C516T (rs6305) polymorphisms of the serotonin receptor gene subtype 2A (HTR2A), the DAT UTR, DAT intron 8 and DAT intron 14 of the dopamine transporter gene (SLC6A3), the Val-158-Met (rs4680) polymorphism of the COMT and the silent mutation G1287A (rs5569) in the norepinephrine transporter gene (SLC6A2). We genotyped 41 obsessive-compulsive disorder (OCD) out

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22

Calvano Küchler, E., J. Arid, M. Palinkas, et al. "Genetic Polymorphisms in ACTN3 Contribute to the Etiology of Bruxism in Children." Journal of Clinical Pediatric Dentistry 44, no. 3 (2020): 180–84. http://dx.doi.org/10.17796/1053-4625-44.3.8.

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Objective: Bruxism is a condition defined as a masticatory muscle activity with an unexplored genetic background. The aim of this study was to evaluate the association between genetic polymorphisms in ACTN3 and bruxism. Study design: A total of 151 biological-unrelated children, aged 7–12 years were included in a case control ratio of 1:1.5. The data collection was performed during interview and clinical examination. Saliva samples were collected from all children and 3 genetic polymorphisms in the ACTN3 (rs678397, rs1671064 and rs1815739) were selected for genotyping using real time PCR. Pear

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23

Kocabaş, Neslihan Aygün, and Bensu Karahalil. "XRCC1 Arg399Gln Genetic Polymorphism in a Turkish Population." International Journal of Toxicology 25, no. 5 (2006): 419–22. http://dx.doi.org/10.1080/10915810600870567.

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Humans are routinely exposed to mutagenic and carcinogenic chemicals. These chemicals can form DNA adducts in vivo and thus lead to DNA damage. The integrity of most of the so-damaged DNAs is typically restored as a consequence of the action of certain DNA-repairing enzymes. In several DNA repair genes, polymorphisms may result in reduced repair capacity, which has been implicated as a risk factor for various types of cancer. XRCC1 is a base-excision repair protein that plays a central role in the repair of DNA base damage and strand breaks. Amongst the known genetic polymorphisms of the DNA-r

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24

Weeden, Norman F., Bruce I. Reisch, and Mary-Howell E. Martens. "Genetic Analysis of Isozyme Polymorphism in Grape." Journal of the American Society for Horticultural Science 113, no. 5 (1988): 765–69. http://dx.doi.org/10.21273/jashs.113.5.765.

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Abstract Genetic analysis of 11 allozyme polymorphisms was performed on the progeny of ‘Cayuga White’ × ‘Aurora’, two complex interspecific grape (Vitis) hybrids. Segregation for most of the polymorphisms closely approximated monogenic Mendelian ratios, and eight new isozyme loci were defined for grape. Joint segregation analysis among the isozyme loci revealed three multilocus linkage groups. These results demonstrate that sufficient allozyme polymorphism exists in grape to establish many multilocus linkage groups and that this genetic analysis can be accomplished using extant progeny or prog

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25

Kudryavtseva, Elena V., Dinara A. Berezina, Daniil O. Kornilov, et al. "Some molecular-genetic determinants of premature aging in women." Consilium Medicum 26, no. 12 (2024): 809–14. https://doi.org/10.26442/20751753.2024.12.202970.

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Background. Accelerated biological aging is associated with age-related diseases and an increased risk of mortality. Genetic predisposition may be an important factor in this process. Aim. To determine the significance of genetic polymorphisms in the VDR and COL1A1 genes in accelerated aging. Materials and methods. The study included 100 women aged 20–35 years, divided into groups with accelerated (Group 1) and normal/slow (Group 2) aging rates. We assessed biological age using V.P. Voytenko's formula. Genetic polymorphisms analyzed were: VDR 283 AG (Bsml), VDR 2 AG (Fokl), COL1A1 1546 GT, COL

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Singh, Sanjay, Manish Gupta, Rajeev Kumar Seam, and Harish Changotra. "E2F1 genetic variants and risk of cervical cancer in Indian women." International Journal of Biological Markers 33, no. 4 (2018): 389–94. http://dx.doi.org/10.1177/1724600818768459.

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Introduction: Altered expression of many E2F family members have been reported in various human cancers. In this study, we investigated the role of non-synonymous single nucleotide polymorphisms (rs3213172 C/T, rs3213173 C/T, and rs3213176 G/A) of the gene E2F1 with cervical cancer. Methods: A total of 181 samples including 90 cervical cancer patients and 91 healthy controls were genotyped. The genotype frequencies of these polymorphisms in collected samples were determined by either PCR-RFLP or PCR-ARFLP methods. SHEsis software was used to analyze the haplotypes. Results: Statistically signi

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Nguyen-Thanh, Tung, Phuong-Thao Nguyen-Vu, Quy-Anh Le-Thi, Thao-Nguyen Phan-Thi, and Thi-Minh-Thi Ha. "Association between Maternal and Fetal Genetic Variants and Preeclampsia: Evidence from a Meta-Analysis." Current Issues in Molecular Biology 46, no. 8 (2024): 8282–300. http://dx.doi.org/10.3390/cimb46080489.

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The objective of this meta-analysis was to evaluate the association between maternal and fetal genetic variants and the risk of preeclampsia, a pregnancy-related condition that affects women. Despite the unclear role of these genetic factors in the development of preeclampsia, this analysis aimed to provide insights into the potential contributing factors. An electronic search of online databases was conducted to identify relevant studies. Stata SE software was used for the meta-analysis. A random-effects model was used to establish the association between the genetic variants and preeclampsia

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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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SHIN, HYOUNG DOO, IL KIM, CHAN-BUM CHOI, SOO OK LEE, HYE WON LEE, and SANG-CHEOL BAE. "Different Genetic Effects of Interferon Regulatory Factor 5 (IRF5) Polymorphisms on Systemic Lupus Erythematosus in a Korean Population." Journal of Rheumatology 35, no. 11 (2008): 2148–51. http://dx.doi.org/10.3899/jrheum.080124.

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ObjectiveIn an effort to replicate additional associations of interferon regulatory factor 5 (IRF5) polymorphisms with systemic lupus erythematosus (SLE) in an Asian population, we examined those genetic effects in a Korean SLE cohort.MethodsEach IRF5 polymorphism was genotyped in 1565 subjects using the TaqMan method and examined to determine whether it could explain the association with SLE.ResultsThree single-nucleotide polymorphisms (IRF5-15-1, rs2070197, and rs10488631), which showed strong and/or independent association in Caucasian populations, were not polymorphic in our Korean populat

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Singh, Shweta, Gourdas Choudhuri, and Sarita Agarwal. "Frequency of CFTR, SPINK1, and Cathepsin B Gene Mutation in North Indian Population: Connections between Genetics and Clinical Data." Scientific World Journal 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/763195.

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Objectives. Genetic mutations and polymorphisms have been correlated with chronic pancreatitis (CP). This study aims to investigate the association of genetic variants of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) genes and Cathepsin B gene polymorphisms with CP and to associate genetic backgrounds with clinical phenotypes.Methods. 150 CP patients and 150 normal controls were enrolled consecutively. We analyzed SPINK-1 N34S and IVS3+2T>C gene mutations by PCR-restriction-fragment length polymorphism (RFLP). The identificat

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Canavy, I., M. Henry, P. E. Morange, et al. "Genetic Polymorphisms and Coronary Artery Disease in the South of France." Thrombosis and Haemostasis 83, no. 02 (2000): 212–16. http://dx.doi.org/10.1055/s-0037-1613788.

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SummaryVascular disease is a multifactorial disease that involves atherosclerotic and thrombotic factors. Genetic polymorphisms have been associated with myocardial infarction and angina pectoris. The aim of the present study was to assess the relationship between some genetic polymorphisms and myocardial infarction (MI) or vasospastic angina pectoris in a population from southern France. Genetic polymorphisms of the renin angiotensin system (the D/I polymorphism of the ACE gene and the A1166C polymorphism of the angiotensin II type 1 receptor [AT1R]) and of haemostatic factors (the -675 4G/5G

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Editorial Staff. "Editor's Summaries of the Articles Published in This Issue of Precision Medicine Communications." Precision Medicine Communications 1, no. 1 (2021): 03–04. http://dx.doi.org/10.55627/pmc.001.01.0076.

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In this issue, Rehman et al., investigate the possible association of genetic polymorphisms with the antiplatelet response to clopidogrel, Ullah and his colleagues review the single nucleotide polymorphism-based algorithms for warfarin dosing, Halima et al., discussed the Parkinson’s disease treatment and the role of genetic polymorphisms in the efficacy and adverse effects, and Inzemam and his colleagues reviewed the pharmacogenetics of fluoxetine, specifically discussing the genetic effects on its efficacy and adverse effects during treatment of the major depressive disorder.

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Shalimova, Anna, Galyna Fadieienko, Olena Kolesnikova, et al. "The Role of Genetic Polymorphism in the Formation of Arterial Hypertension, Type 2 Diabetes and their Comorbidity." Current Pharmaceutical Design 25, no. 3 (2019): 218–27. http://dx.doi.org/10.2174/1381612825666190314124049.

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Background: Hereditary component plays a significant role in the formation of insulin resistance (IR) - one of the pathogenetic links of arterial hypertension (AH) and type 2 diabetes mellitus (DM2). However, the genetic predisposition to IR can not be realized and does not manifest itself clinically in the absence of appropriate factors of the environment (excessive nutrition, low physical activity, etc.). Objective: The review summarizes the results of studies which describe the contribution of genetic polymorphism to the formation and progression of AH, DM2 and their comorbidity in various

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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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Bandazhevskyi, Yu I., та N. F. Dubova. "Genetic polymorphisms of the folate cycle and hyperhomocysteinemia in children from areas bordering the Chоrnobyl exclusion zone". Environment & Health, № 3 (108) (вересень 2023): 11–18. http://dx.doi.org/10.32402/dovkil2023.03.011.

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The aim of the work is to establish a relationship between polymorphisms of the FC and the state of hyperhomocysteinemia in children living in areas bordering the ChEZ). Research methods: laboratory, genetic, mathematical-statistical. Results: The levels of homocysteine (Hcy) in blood and genetic polymorphisms of the folate cycle (FC) were determined in 690 children (322 boys and 368 girls) aged 8-17 years old living near the ChEZ. It was found that 97.8% of the children had genotypes with risk alleles of FC polymorphisms. The most common combinations of 2 and 3 polymorphic variants. The propo

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Diao, Hong-Mei, Zheng-Feng Song, and Hai-Dong Xu. "Association between MTHFR genetic polymorphism and Parkinson’s disease susceptibility: a meta-analysis." Open Medicine 14, no. 1 (2019): 613–24. http://dx.doi.org/10.1515/med-2019-0069.

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AbstractFolate metabolism plays quite a critical role in Parkinson’s disease (PD). Previous published research works have studied the link existing between the folate metabolism genetic polymorphisms and PD susceptibility; nevertheless, the results continue having controversies and inconclusiveness. Accordingly, we carried out the present meta-analysis for the assessment of the potential link between the folate metabolism genetic polymorphisms and the susceptibility to PD. In addition we carried out a literature search in the PubMed, EMBASE, Cochrane Library, and WanFang databases till Novembe

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Taizhanova, Dana, Roza Bodaubay, Aliya Toleuova, et al. "Genetic Polymorphisms Association in Restenosis of Coronary Arteries." Open Access Macedonian Journal of Medical Sciences 8, B (2020): 666–72. http://dx.doi.org/10.3889/oamjms.2020.4505.

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BACKGROUND: There is a reason to believe that the polymorphism of genes encoding some enzymes and receptors plays a role in increasing of restenosis development risk. It is common knowledge that ethnicity affects the frequency of heterozygous genotypes occurrence. There is the evidence that polymorphism of the FGB gene (rs1800790) and THBD gene was determined in the ethnic group of Kazakhs with restenosis of the coronary arteries, which can be considered as genetic predictors of restenosis development. Today, the questions of the role of the genetic component in the development of coronary hea

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Ayesh, Hazem, Sajida S. Ayesh, Azizullah Beran, and Suhail Ayesh. "Association of NOS3 and TNF Genetic Polymorphisms With the Predisposition to Elevated Cholesterol, Retrospective Study." Journal of the Endocrine Society 5, Supplement_1 (2021): A33. http://dx.doi.org/10.1210/jendso/bvab048.064.

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Abstract Background: Endothelial nitric oxide synthetase (eNOS) encoded by NOS3 gene has an important role in modulating vascular endothelial function. TNFα gene is responsible for coding TNFα protein that plays a significant role in regulating body inflammation and lipid metabolism. Many studies reported an association between NOS3 and TNFα genetic polymorphisms and elevated total cholesterol (TC) level, low-density lipoprotein (LDL), triglyceride (TG). In this study, we investigated the association of NOS3 (G&gt;T) rs1799983 and TNFα -308G&gt;A rs1800629 genetic polymorphisms with TC

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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.

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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

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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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Yvert, Thomas, Catalina Santiago, Elena Santana-Sosa, et al. "Physical-Capacity-Related Genetic Polymorphisms in Children with Cystic Fibrosis." Pediatric Exercise Science 27, no. 1 (2015): 102–12. http://dx.doi.org/10.1123/pes.2014-0050.

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In patients with cystic fibrosis (CF), physical capacity (PC) has been correlated with mortality risk. In turn, PC is dependent on genetic factors. This study examines several polymorphisms associated with PC and healthrelated phenotype traits (VO2peak, FEV1, FVC, PImax and muscular strength) in a group of children with CF (n = 66, primary purpose). The same analyses were also performed in a control group of healthy children (n = 113, secondary purpose). The polymorphisms determined were classified as muscle function polymorphisms (ACE rs1799752; AGT rs699; ACTN3 rs1815739; PTK2 rs7843014 and

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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.

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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

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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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Chauhan, Jyoti, Rajiv Ahluwalia, and Tina Chugh. "Association of genetic polymorphism in orthodontically induced external apical root resorption- “A Narrative Review”." Santosh University Journal of Health Sciences 10, no. 1 (2024): 111–15. http://dx.doi.org/10.4103/sujhs.sujhs_35_24.

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ABSTRACT Orthodontically induced external apical root resorption (OIEARR) is a common complication associated with orthodontic treatment, with genetic factors playing a significant role in its etiology. This article aimed to review the available literature on OIEARR and it is association with genetic polymorphisms. Various electronic databases were searched for cross-sectional, prospective, and retrospective longitudinal studies, randomized controlled trials, and reviews and meta-analyses to determine the impact of genetic polymorphism and OIEAAR only the articles available in English-language

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Campbell, Rebecca, and Jennifer Beall. "Pharmacogenomics of lamotrigine: a possible link to serious cutaneous adverse reactions." Mental Health Clinician 5, no. 2 (2015): 78–81. http://dx.doi.org/10.9740/mhc.2015.03.078.

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Abstract Introduction Lamotrigine's packaging contains a boxed warning for serious skin reactions, including Stevens-Johnson syndrome and toxic epidermal necrolysis. The purpose of this review is to summarize literature pertaining to HLA genetic polymorphisms that may increase susceptibility to serious skin reactions induced by lamotrigine. Methods A literature search of PubMed/MEDLINE and Ovid IPA was conducted using the following search terms: lamotrigine, genetic polymorphism, pharmacogenetics, pharmacogenomics, predictive genetic testing, anticonvulsants, hypersensitivity, and HLA-B. Resul

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Cambien, Francois, and Laurence Tiret. "Atherosclerosis: From Genetic Polymorphisms to System Genetics." Cardiovascular Toxicology 5, no. 2 (2005): 143–52. http://dx.doi.org/10.1385/ct:5:2:143.

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Li, Xiaoqing, Yong Lin, and Ruizhi Zhang. "Associations between endothelial nitric oxide synthase gene polymorphisms and the risk of coronary artery disease: A systematic review and meta-analysis of 132 case-control studies." European Journal of Preventive Cardiology 26, no. 2 (2018): 160–70. http://dx.doi.org/10.1177/2047487318780748.

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The roles of endothelial nitric oxide synthase gene polymorphisms in coronary artery disease have been intensively analyzed, with inconsistent results. Therefore, we performed this study to better assess the relationship between endothelial nitric oxide synthase genetic variations and the risk of coronary artery disease. Eligible studies were searched in PubMed, Medline, Embase, and Web of Science. Odds ratios with 95% confidence intervals were used to evaluate associations between endothelial nitric oxide synthase polymorphisms and coronary artery disease. A total of 132 genetic association s

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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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Chumakova, G. A., A. P. Momot, A. A. Kozarenko, and N. G. Veselovskaya. "Genetic predisposition to atherothromboses in patients with severe angina pectoris." CardioSomatics 1, no. 1 (2010): 80–83. http://dx.doi.org/10.26442/cs44989.

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Objective. To study the prevalence of thrombosis allelic polymorphisms in patients with severe angina who have indications for myocardial revascularization. Design and methods. The study included 105 patients (87 men and 18 women) aged from 33 to 70 years who had angina III–IV functional class, with indications for myocardial revascularization. All the patients studied polymorphism of the inhibitor of tissue plasminogen activator I type (675 4G/5G) (PAI-I), mutations of the factor II-prothrombin (20210 G / A), mutations of the factor V Leiden (Arg 506 Gln) and polymorphism of the methylenetetr

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Delvecchio, G., M. Bellani, A. C. Altamura, and P. Brambilla. "The association between the serotonin and dopamine neurotransmitters and personality traits." Epidemiology and Psychiatric Sciences 25, no. 2 (2016): 109–12. http://dx.doi.org/10.1017/s2045796015001146.

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Evidence from previous studies has reported that complex traits, including psychiatric disorders, are moderately to highly heritable. Moreover, it has also been shown that specific personality traits may increase the risk to develop mental illnesses. Therefore the focus of the research shifted towards the identification of the biological mechanisms underpinning these traits by exploring the effects of a constellation of genetic polymorphisms in healthy subjects. Indeed, studying the effect of genetic variants in normal personality provides a unique means for identifying candidate genes which m

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