Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with ischemic stroke in the Eastern Chinese Han population

Lv, Qingquan; Lü, Jing; Sun, Huiling; Zhang, J.-S.

doi:10.4238/2015.april.27.31

Cited by 18 publications

(16 citation statements)

References 23 publications

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“…It is widely accepted that genetic markers in predisposition to IS vary across different ethnic populations. For instance, MTHFR A1298C polymorphism was strongly associated with IS risk in Asians but not in Europeans [56–58]. These results suggested that PDE4D SNP56 might be an ethnic population – specific genetic marker for IS patients.…”

Section: Discussionmentioning

confidence: 99%

No Association Between SNP56 in PDE4D Gene and Susceptibility to Ischemic Stroke: A Meta-Analysis of 15 Studies

2016

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BackgroundRecent studies demonstrated that polymorphisms in the PDE4D gene were associated with several processes involved in the occurrence of ischemic stroke (IS). The association between specific PDE4D single-nucleotide polymorphism 56 (SNP56) and IS risk was initially identified via genome-wide association studies (GWAS), although the GWAS in different populations produced inconclusive results. Thus, we performed a meta-analysis to better explain the association between PDE4D SNP56 and IS risk.Material/MethodsA literature search was conducted using PubMed, Embase, and Web of Science up to June 1, 2015. A fixed-effects or random-effects model was used to calculate the pooled odds ratios (ORs) based on the results from the heterogeneity tests.ResultsFinally, we performed a meta-analysis of 15 studies, involving 8731 IS patients and 10,756 controls. The results showed nonsignificant association between PDE4D SNP56 and IS risk (T vs. A: OR=1.01, 95%CI=0.88–1.15, P=0.90). Similarly, in the subgroup analysis by ethnicity, no significant association was observed in Asian (T vs. A: OR=1.08, 95%CI=0.80–1.44, P=0.62) or European (T vs. A: OR=0.96, 95%CI=0.86–1.08, P=0.54) population. Moreover, funnel plots and Egger regression testing showed no evidence of publication bias.ConclusionsIn summary, current evidence suggested that PDE4D SNP56 might not be associated with an increased susceptibility to IS. However, this conclusion needs further validation by well-designed studies with large sample sizes.

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Section: Discussionmentioning

confidence: 99%

No Association Between SNP56 in PDE4D Gene and Susceptibility to Ischemic Stroke: A Meta-Analysis of 15 Studies

2016

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“…[8,23] Therefore, understanding the haplotype and combined genotype distribution of the 2 polymorphisms is important and valuable. Several case–control studies have reported the frequencies of the combined genotype and haplotype of the MTHFR C677T and A1298C polymorphisms in Chinese population, [24–26] but most of these studies were limited by a focus on the prevalence at regional levels and/or small sample sizes. In this study, we estimated and reported the combined genotype and haplotype distributions of the MTHFR C677T and A1298C polymorphisms among 13,473 Chinese adult women from 9 provinces.…”

Section: Introductionmentioning

confidence: 99%

Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms

et al. 2016

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Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are, independently and/or in combination, associated with many disorders. However, data on the combined genotype and haplotype distributions of the 2 polymorphisms in Chinese population were limited.We recruited 13,473 adult women from 9 Chinese provinces, collected buccal cell samples, and determined genotypes, to estimate the combined genotype and haplotype distributions of the MTHFR C677T and A1298C polymorphisms.In the total sample, the 6 common combined genotypes were CT/AA (29.5%), TT/AA (21.9%), CC/AA (15.4%), CC/AC (14.9%), CT/AC (13.7%), and CC/CC (3.4%); the 3 frequent haplotypes were 677T-1298A (43.6%), 677C-1298A (37.9%), and 677C-1298C (17.6%). Importantly, we observed that there were 51 (0.4%) individuals with the CT/CC genotype, 92 (0.7%) with the TT/AC genotype, 17 (0.1%) with the TT/CC genotype, and that the frequency of the 677T-1298C haplotype was 0.9%. In addition, the prevalence of some combined genotypes and haplotypes varied among populations residing in different areas and even showed apparent geographical gradients. Further linkage disequilibrium analysis showed that the D’ and r2 values were 0.883 and 0.143, respectively.In summary, the findings of our study provide further strong evidence that the MTHFR C677T and A1298C polymorphisms are usually in trans and occasionally in cis configurations. The frequencies of mutant genotype combinations were relatively higher in Chinese population than other populations, and showed geographical variations. These baseline data would be useful for future related studies and for developing health management programs.

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“…They indicate that A1298C polymorphism and haplotypes consisting of A1298C, C677T polymorphisms may be associated with the risk of IS [23]. Gao et al perform a meta-analysis about whether genetic variants of AGT gene are related to IS on the basis of previous studies, the results show the significant relevance of AGT M235T, T174M polymorphisms with the susceptibility to IS in the Chinese Han population [24].…”

Section: Discussionmentioning

confidence: 99%

The Association Between the Genetic Variants of the NOTCH3 Gene and Ischemic Stroke Risk

Yuan

Dong

2016

Med Sci Monit

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BackgroundIschemic stroke (IS) is a leading cause of disability and death and NOTCH3 as a gene related with cardiac-cerebral vascular disease plays a vital role in IS development. However, the reports about the effect of genetic variants in NOTCH3 gene on IS are still few.Material/MethodsIn order to explore the association between NOTCH3 polymorphisms and IS, 134 patients with IS and 115 controls were enrolled in this case-control study. Polymerase chain reaction was used to do the genotyping of polymorphisms. The χ2 test was performed to evaluate Hardy-Weinberg equilibrium (HWE) in the control group and calculate odds ratio (OR) with corresponding 95% confidence interval (CI) which represented the association intensity of NOTCH3 gene polymorphisms and IS risk.ResultsThe genotype frequencies in the control group all confirmed to HWE. TT genotype of 381C>T was associated significantly with IS risk (OR=2.441, 95%CI=1.021–5.837). TC, CC mutant genotypes of 1735T>C had higher frequencies in cases than controls and the difference was significant (P=0.013, 0.041); further, its C allele also increased 0.722 times risk in the case group than controls (OR=1.722, 95%CI=1.166–2.541).ConclusionsNOTCH3 381C>T and 1735T>C polymorphisms were associated with IS and might be the risk factors for IS development, but not NOTCH3 605C>T polymorphism.

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Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with ischemic stroke in the Eastern Chinese Han population

Cited by 18 publications

References 23 publications

No Association Between SNP56 in PDE4D Gene and Susceptibility to Ischemic Stroke: A Meta-Analysis of 15 Studies

No Association Between SNP56 in PDE4D Gene and Susceptibility to Ischemic Stroke: A Meta-Analysis of 15 Studies

Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms

The Association Between the Genetic Variants of the NOTCH3 Gene and Ischemic Stroke Risk

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