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 Correlation between CDKAL1 rs10946398C>A single nucleotide polymorphism and type 2 diabetes mellitus susceptibility: A meta-analysis

2017 ◽  
Vol 12 (1) ◽  
pp. 501-509 ◽  
Author(s):  
Yunyi Liang ◽  
Yi Shu ◽  
Haizhao Luo ◽  
Riqiu Chen ◽  
Zhifu Zeng
Keyword(s):  
Type 2 Diabetes ◽  
Single Nucleotide Polymorphism ◽  
Type 2 Diabetes Mellitus ◽  
Genetic Model ◽  
Meta Analysis ◽  
Random Effect ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Statistical Heterogeneity

AbstractObjectiveThe purpose of this meta analysis was to assess the correlation between CDKAL1 rs10946398C>A single nucleotide polymorphism (SNP) and type 2 diabetes mellitus (T2DM) susceptibility by pooling the open published studies.MethodElectronic searching of PubMed, EMBASE, Medline, Cochrane, China Biology Medicine disc (CBM) and China National Knowledge Infrastructure (CNKI) databases were performed by two reviewers independently to collect the open published studies related to CDKAL1 rs10946398C>A single nucleotide polymorphism and T2DM susceptibility. The association between CDKAL1 rs10946398C>A single nucleotide polymorphism and T2DM susceptibility was expressed by odds ratio (OR) and the corresponding 95% confidence interval (95%CI).ResultsThirteen studies with a total of 13,966 T2DM and 14,274 controls were finally included for analysis in this meta-analysis. Of the included 13 publications, 2 studies were carried out in Europe, 8 in Asia, 2 in Africa and 1 in Latin America. Being significant statistical heterogeneity, the data was pooled through random effect model. In a dominant genetic model, there was significant correlation between CDKAL1 rs10946398C>A SNP and T2DM risk (OR=1.22, P<0.05). In a dominant genetic model people with CC or CA genotype had increased risk of developing T2DM; Because of statistical heterogeneity for the included studies in a recessive genetic model (AA+CA vs CC), the data was calculated by random effect method. The combined data showed people with AA or CA genotype had decreased risk of developing T2DM compared to CC genotype (OR=0.83, P<0.05); For a homozygous genetic model (CC vs AA), the OR was calculated through random effect model for statistical heterogeneity among the included 13 studies. The combined OR was 1.33 which indicated people with CC genotype had increased risk of developing T2DM.ConclusionAccording to the present results, CDKAL1 rs10946398C>A single nucleotide polymorphism had correlation with the susceptibility of type 2 diabetes mellitus.

Cluster headache and the hypocretin receptor 2 reconsidered: A genetic association study and meta-analysis

Cephalalgia ◽  
2014 ◽  
Vol 35 (9) ◽  
pp. 741-747 ◽  
Author(s):  
Claudia M Weller ◽  
Leopoldine A Wilbrink ◽  
Jeanine J Houwing-Duistermaat ◽  
Stephany C Koelewijn ◽  
Lisanne S Vijfhuizen ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Cluster Headache ◽  
Confidence Intervals ◽  
Genetic Association ◽  
Odds Ratio ◽  
Meta Analysis ◽  
Random Effect ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Study Population

Background Cluster headache is a severe neurological disorder with a complex genetic background. A missense single nucleotide polymorphism (rs2653349; p.Ile308Val) in the HCRTR2 gene that encodes the hypocretin receptor 2 is the only genetic factor that is reported to be associated with cluster headache in different studies. However, as there are conflicting results between studies, we re-evaluated its role in cluster headache. Methods We performed a genetic association analysis for rs2653349 in our large Leiden University Cluster headache Analysis (LUCA) program study population. Systematic selection of the literature yielded three additional studies comprising five study populations, which were included in our meta-analysis. Data were extracted according to predefined criteria. Results A total of 575 cluster headache patients from our LUCA study and 874 controls were genotyped for HCRTR2 SNP rs2653349 but no significant association with cluster headache was found (odds ratio 0.91 (95% confidence intervals 0.75–1.10), p = 0.319). In contrast, the meta-analysis that included in total 1167 cluster headache cases and 1618 controls from the six study populations, which were part of four different studies, showed association of the single nucleotide polymorphism with cluster headache (random effect odds ratio 0.69 (95% confidence intervals 0.53–0.90), p = 0.006). The association became weaker, as the odds ratio increased to 0.80, when the meta-analysis was repeated without the initial single South European study with the largest effect size. Conclusions Although we did not find evidence for association of rs2653349 in our LUCA study, which is the largest investigated study population thus far, our meta-analysis provides genetic evidence for a role of HCRTR2 in cluster headache. Regardless, we feel that the association should be interpreted with caution as meta-analyses with individual populations that have limited power have diminished validity.

scholarly journals Association between Oral Contraceptives and cutaneous melanoma: a systematic review and metanalysis

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
I Giacchetta ◽  
M Chiavarini ◽  
G Naldini ◽  
R Fabiani
Keyword(s):  
Systematic Review ◽  
Malignant Melanoma ◽  
Publication Bias ◽  
Oral Contraceptives ◽  
Meta Analysis ◽  
Random Effect ◽  
Random Effect Model ◽  
Cutaneous Malignant Melanoma ◽  
Hormonal Factors ◽  
Increased Risk

Abstract Background The probability of developing invasive cutaneous malignant melanoma (CMM) is higher in women than in men up until the age of 49. Several studies investigated the association between hormonal factors and CMM. The aim of this systematic review and meta-analysis is to summarize the evidence on the association between Oral Contraceptives (OC) and the risk of CMM. Methods This review and meta-analysis follow the PRISMA guidelines. A systematic literature search was conducted on Medline and Web of Science until December 2019. Studies were eligible if reported a risk estimate for the association between OC and CMM. Heterogeneity testing was performed using Cochran's Q and I2 statistics. Publication bias was assessed by Egger's test and Begg's test. Meta-analysis was performed using random effect model. Results The results of the pooled analysis of all 32 studies showed no significant association between OC and the risk of CMM (OR 1.02; 95% CI 0.94-1.11; I2=39.32%, p = 0.013). The stratified analyses by study design found no significant association between OC and the risk of CMM neither in the 18 case-control studies (OR 1.02; 95% CI 0.87-1.21; I2=56.91%, p = 0.002) nor in the 14 cohort studies (OR 1.04; 95% CI 0.98-1.11; I2=0.00%, p = 0.557). No significant publication bias could be detected by Egger's test or Begg's test. Conclusions This meta-analysis of available literature suggests no significant association between OC and the risk of developing CMM. Further investigations are needed to evaluate the possible relationship of OC use and other hormonal factors potentially contributing to the increased risk of CMM in women during their reproductive years. Key messages Oral contraceptives (OC) do not significantly contribute to the risk of Cutaneous Malignant Melanoma (CMM). Further studies are needed to investigate the potential role of other hormonal factors in the increased probability of developing CMM in women during their reproductive years.

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.

scholarly journals ASSOCIATION OF IL-8 -251T>A (RS4073) POLYMORPHISM WITH SUSCEPTIBILITY TO GASTRIC CANCER: A SYSTEMATIC REVIEW AND META-ANALYSIS BASED ON 33 CASE-CONTROL STUDIES

2020 ◽  
Vol 57 (1) ◽  
pp. 91-99
Author(s):  
Mansour MOGHIMI ◽  
Seyed Alireza DASTGHEIB ◽  
Naeimeh HEIRANIZADEH ◽  
Mohammad ZARE ◽  
Elnaz SHEIKHPOUR ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Meta Analysis ◽  
Random Effect ◽  
Random Effect Model ◽  
Case Control ◽  
Case Control Studies ◽  
Effect Model ◽  
Increased Risk ◽  
Mixed Populations ◽  
Stratified Analysis

ABSTRACT BACKGROUND: The role of -251A>T polymorphism in the anti-inflammatory cytokine interleukin-8 (IL-8) gene in gastric cancer was intensively evaluated, but the results of these studies were inconsistent. OBJECTIVE: Therefore, we performed a meta-analysis to provide a comprehensive data on the association of IL-8 -251T>A polymorphism with gastric cancer. METHODS: All eligible studies were identified in PubMed, Web of Science, EMBASE, Wanfang and CNKI databases before September 01, 2019. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were derived from a fixed effect or random effect model. RESULTS: A total of 33 case-control studies with 6,192 cases and 9,567 controls were selected. Overall, pooled data showed that IL-8 -251T>A polymorphism was significantly associated with an increased risk of gastric cancer under all five genetic models, i.e., allele (A vs T: OR=1.189, 95% CI 1.027-1.378, P=0.021), homozygote (AA vs TT: OR=1.307, 95% CI 1.111-1.536, P=0.001), heterozygote (AT vs TT: OR=1.188, 95% CI 1.061-1.330, P=0.003), dominant (AA+AT vs TT: OR=1.337, 95% CI 1.115-1.602, P=0.002) and recessive (AA vs AT+TT: OR=1.241, 95% CI 1.045-1.474, P=0.014). The stratified analysis by ethnicity revealed an increased risk of gastric cancer in Asians and mixed populations, but not in Caucasians. Moreover, stratified by country found a significant association in Chinese, Korean and Brazilian, but not among Japanese. CONCLUSION: This meta-analysis suggests that the IL-8 -251T>A polymorphism is associated with an increased risk of gastric cancer, especially by ethnicity (Asian and mixed populations) and country (Chinese, Korean and Brazilian).

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.

Utilizing Genomic DNA Purified From Clotted Blood Samples for Single Nucleotide Polymorphism Genotyping

2002 ◽  
Vol 126 (3) ◽  
pp. 266-270
Author(s):  
Karissa K. Adkins ◽  
Daniel A. Strom ◽  
Thomas E. Jacobson ◽  
Cara R. Seemann ◽  
Darin P. O'Brien ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V ◽  
Single Nucleotide Polymorphism Genotyping ◽  
Nucleotide Polymorphism ◽  
High Quality ◽  
Genetic Tests ◽  
Single Nucleotide ◽  
Blood Samples ◽  
Clinical Laboratories

Abstract Context.—Linking single nucleotide polymorphisms to disease etiology is expected to result in a substantial increase in the number of genetic tests available and performed at clinical laboratories. Whole blood serves as the most common DNA source for these tests. Because the number of blood samples rises with the number of genetic tests performed, alternative DNA sources will become important. One such alternative source is clotted blood, a by-product of serum extraction. Efficiently using an already procured blood sample would limit the overall number of samples processed by clinical laboratories. Objective.—To determine if DNA purified from clotted blood can be effectively used for single nucleotide polymorphism genotyping. Design.—DNA was purified from the clotted blood of 15 donors. Single nucleotide polymorphism genotyping for the methylenetetrahydrofolate reductase and factor V Leiden mutations was performed with each DNA sample by 2 independent methods. Results.—High-quality DNA was obtained from each of the 15 individual clotted blood samples as demonstrated by UV spectrophotometric analysis, gel electrophoresis, and polymerase chain reaction amplification. The DNA was used successfully to obtain genotype data from both the methylenetetrahydrofolate reductase and factor V single nucleotide polymorphism assays for all samples tested. Conclusions.—Clotted blood is a clinically abundant sample type that can be used as a source of high-quality DNA for single nucleotide polymorphism genotyping.

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