The MTHFR C677T Polymorphism and Risk of Intracerebral Hemorrhage in a Chinese Han Population

Abstract

BackgroundMethylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been speculated to be and extensively investigated as a risk factor for various vascular diseases, including intracerebral hemorrhage (ICH). However, results from published studies regarding the role of C677T polymorphism in ICH risk in Chinese populations were contradictory rather than conclusive.Material/MethodsIn this study, a total of 180 ICH patients and 180 matched controls of Chinese Han ethnicity were enrolled. The MTHFR C677T polymorphism was genotyped by polymerase chain reaction-ligation detection reaction (PCR-LDR). A meta-analysis was conducted by combining our data with previous relevant studies in Chinese populations.ResultsIn our case-control study, similar allele frequency (p=0.492) and genotype distribution (p=0.748) of MTHFR C677T polymorphism were detected between ICH patients and controls. Further analysis based on hematoma location did not show a significant association. When combined with previous studies, however, C677T polymorphism was found to be significantly associated with an increased risk for ICH in Chinese populations (recessive model: OR=1.57, 95%CI=1.29–1.91). When focusing on the Han ethnicity, carriers of the TT genotype had an increased risk of ICH (recessive model: OR=1.36, 95%CI=1.05–1.75).ConclusionsIn this case-control study we did not observe that the MTHFR C677T polymorphism was associated with ICH risk in people of Chinese Han ethnicity. However, when combined with previous published studies, a significant association of C677T polymorphism with an increased risk of ICH was detected in Chinese populations, and also in the subgroup analysis focusing on Han ethnicity.

Genetic susceptibility to cerebrovascular disease: A systematic review

“…There is evidence to support the replication of associations of both APOE ɛ4 and MTHFR 677C > T in east Asian populations. 73,74…”

“…There is evidence to support the replication of associations of both APOE "4 and MTHFR 677C > T in east Asian populations. 73,74 Monogenic disorders associated with spontaneous intracerebral hemorrhage. The following are monogenic disorders that cause intracerebral hemorrhage, but without particular variants qualifying for study inclusion.…”

Associations between MTHFR gene polymorphisms and the risk of intracranial hemorrhage: Evidence from a meta‐analysis

“…(2012) and Hu et al. (2016) also tried to investigate associations between MTHFR rs1801133 (C677T) polymorphism and ICH through a meta‐analysis. Nevertheless, the previous meta‐analysis by Gao et al only covered relevant genetic association studies that were published before 2011, while the previous meta‐analysis by Hu et al only focused on studies that were conducted in the Chinese population, and two recent publications in the Chinese population were not covered by Hu and colleagues (Jiang, Sheng, & Luo, 2018; Shao, Meng, & Wu, 2016).…”

Genetics of Spontaneous Intracerebral Hemorrhage: Risk and Outcome

“…The C677T variant in MTHFR can alter the amino acid sequence and enzymatic activity of MTHFR. Several large-scale meta-analyses have shown that MTHFR C677T polymorphism was associated with ICH risk ( Kang et al, 2013 ; Zhao and Jiang, 2013 ; Hu et al, 2016 ). A prospective study demonstrated that MTHFR TT genotype was a predictor of ICH independent of hypertension ( Hultdin et al, 2011 ).…”