A Single Nucleotide Polymorphism in the GDF5 Gene (rs143383) may contribute to the Increased Risk of Osteoarthritis and Lumbar Disc Degeneration: an Updated Meta-Analysis

2017 ◽  
Vol 05 (03) ◽  
Author(s):  
Liying Jiang ◽  
Yidan Wang ◽  
Xiaoyue Zhu ◽  
Peng Hu ◽  
Dandong Wu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Disc Degeneration ◽  
Lumbar Disc ◽  
Meta Analysis ◽  
Lumbar Disc Degeneration ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Gdf5 Gene

scholarly journals GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women

2011 ◽  
Vol 63 (3) ◽  
pp. 708-712 ◽  
Author(s):  
F. M. K. Williams ◽  
M. Popham ◽  
D. J. Hart ◽  
E. de Schepper ◽  
S. Bierma-Zeinstra ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Disc Degeneration ◽  
Lumbar Disc ◽  
Lumbar Disc Degeneration ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Northern European ◽  
European Women

scholarly journals The correlation between methylenetetrahydrofolate reductase gene 677C > T polymorphism and fetal congenital defects: A meta-analysis

Pteridines ◽  
2020 ◽  
Vol 31 (1) ◽  
pp. 9-17
Author(s):  
Dexia Li ◽  
Enxia Wang ◽  
Xia Gao ◽  
Ping Li
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Publication Bias ◽  
Methylenetetrahydrofolate Reductase ◽  
Meta Analysis ◽  
Random Effect ◽  
Congenital Defects ◽  
Nucleotide Polymorphism ◽  
Case Control Studies ◽  
Single Nucleotide ◽  
Increased Risk

AbstractObjective To investigate the correlation between the methylenetetrahydrofolate reductase (MTHFR) gene 677C> T polymorphism and fetal congenital defects.Method Original studies relevant to the MTHFR gene 677C>T single nucleotide polymorphism and fetal congenital defects were systematically searched in the electronic databases of Medline, EMBSE and China National Knowledge Infrastructure (CNKI). All relevant publications were screened for inclusion in the present work. The correlation between the MTHFR gene 677C > T single nucleotide polymorphism and the occurrence of fetal congenital defects was expressed as an odds ratio (OR) and its 95% confidence interval (95% CI). Publication bias was assessed by Begg’s funnel plot and Egger’s line regression test.Results Nineteen case-control studies were ultimately included in the present meta-analysis. The pooled results indicated that the general risk of fetal congenital defects was significantly elevated in subjects with the 677T allele of the MTHFR gene in dominant (OR=1.07,95%CI:1.03-1.12, P<0.05), homozygous (OR=1.17,95%CI:1.06-1.30, P<0.05) and recessive genetic models (OR=1.16,95%CI:1.03-1.31, P<0.05) through the random effect method. However, significant publication bias was identified upon pooling the individual data and evaluating the correlation.Conclusion According to the present evidence, the MTHFR gene 677C>T single nucleotide polymorphism is correlated with poor pregnancy outcomes, and subjects with the T allele have an increased risk of developing general fetal congenital defects.

scholarly journals Association between rs12252 and influenza susceptibility and severity: an updated meta-analysis

2018 ◽  
Vol 147 ◽  
Author(s):  
T. Chen ◽  
M. Xiao ◽  
J. Yang ◽  
Y. K. Chen ◽  
T. Bai ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Odds Ratio ◽  
Meta Analysis ◽  
Strong Association ◽  
Dominant Model ◽  
Healthy Individuals ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Model C ◽  
Allelic Model

AbstractIn several lately published studies, the association between single-nucleotide polymorphism (SNP, rs12252) of IFITM3 and the risk of influenza is inconsistent. To further understand the association between the SNP of IFITM3 and the risk of influenza, we searched related studies in five databases including PubMed published earlier than 9 November 2017. Ten sets of data from nine studies were included and data were analysed by Revman 5.0 and Stata 12.0 in our updated meta-analysis, which represented 1365 patients and 5425 no-influenza controls from four different ethnicities. Here strong association between rs12252 and influenza was found in all four genetic models. The significant differences in the allelic model (C vs. T: odds ratio (OR) = 1.35, 95% confidence interval (CI) (1.03–1.79), P = 0.03) and homozygote model (CC vs. TT: OR = 10.63, 95% CI (3.39–33.33), P < 0.00001) in the Caucasian subgroup were discovered, which is very novel and striking. Also novel discoveries were found in the allelic model (C vs. T: OR = 1.37, 95% CI (1.08–1.73), P = 0.009), dominant model (CC + CT vs. TT: OR = 1.48, 95% CI (1.08–2.02), P = 0.01) and homozygote model (CC vs. TT: OR = 2.84, 95% CI (1.36–5.92), P = 0.005) when we compared patients with mild influenza with healthy individuals. Our meta-analysis suggests that single-nucleotide T to C polymorphism of IFITM3 associated with increasingly risk of severe and mild influenza in both Asian and Caucasian populations.

Single nucleotide polymorphism rs1128446 ТXNRD1 is a novel genetic marker of cerebral stroke

2021 ◽  
pp. 37-43
Author(s):  
О.Ю. Бушуева ◽  
А.В. Полоников ◽  
В.П. Иванов
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Ischemia Reperfusion ◽  
Basic Mechanism ◽  
Bioinformatic Analysis ◽  
Redox Status ◽  
Cerebral Stroke ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Thioredoxin System

Мозговой инсульт (МИ) занимает третье место в структуре смертности во всем мире и является ведущим фактором снижения когнитивных функций и деменции. Окислительный стресс является ведущим механизмом повреждения головного мозга при ишемии и последующей реперфузии. Тиоредоксиновая система является наиболее важным антиоксидантным барьером клетки, способным регулировать ее окислительно-восстановительный статус. Целью исследования было изучение ассоциации однонуклеотидного полиморфизма rs1128446 гена эндогенного регулятора тиоредоксина ТXNRD1 с риском развития МИ. Материалом для исследования послужила выборка неродственных жителей Центральной России общей численностью 825 человек. В исследование были включены 375 пациентов с МИ (216 мужчин, 159 женщин; средний возраст 59,44±0,51 лет). Контрольную группу составили 450 относительно здоровых индивидуумов (249 мужчин, 201 женщина, средний возраст 61,69±0,38 лет) без кардио- и цереброваскулярных заболеваний в анамнезе и имеющих нормальный уровень артериального давления. Генотипирование SNP проводили методом ПЦР в режиме реального времени путем дискриминации аллелей с помощью TaqMan-зондов. Для анализа ассоциаций генотипов с развитием заболевания пользовались лог-аддитивной регрессионной моделью. Все расчеты выполнены относительно минорного аллеля; введены поправки на пол и возраст. SNP rs1128446 ТXNRD1 был связан с повышенным риском развития МИ (OR=1,89; 95% CI=1,48-2,43; p<0,0001). Проведенный биоинформатический анализ выявил высокий регуляторный потенциал данного SNP в тканях сердечно-сосудистой системы. Таким образом, впервые установлена ассоциация rs1128446 ТXNRD1 с развитием МИ. Cerebral stroke (CS) is the leading factor in cognitive decline and dementia and ranks third in the structure of mortality worldwide. Oxidative stress is the basic mechanism of brain damage after cerebral ischemia-reperfusion. The thioredoxin system is the most important antioxidant barrier of the cell, capable of regulating its redox status. The aim of this study was to investigate the association of the common single nucleotide polymorphism rs1128446 in gene encoding the endogenous thioredoxin regulator TXNRD1 with the risk of CS. A total of 825 unrelated individuals from Central Russia were included for this study: 375 patients with CS (216 males, 159 females; 59.44±0.51 years old) and 450 healthy controls (249 males, 201 females, 61.69±0.38 years old). Genotyping was performed using TaqMan-based PCR. To analyze the associations of genotypes with the risk of diseases, a log-additive regression model was used. All calculations were performed relative to the minor allele; corrections for gender and age have been introduced. SNP rs1128446 TXNRD1 was associated with an increased risk of CS (OR=1.89; 95% CI=1.48-2.43; P<0.0001). Bioinformatic analysis revealed a high regulatory potential of this SNP in tissues of the cardiovascular system. Thus, for the first time, the association of rs1128446 TXNRD1 with the development of CS was revealed.

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