Geographical and ethnic distribution of MTHFR gene polymorphisms and their associations with diseases among Chinese population

Abstract

Numerous studies have investigated the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and their associations with diseases in China. In this study we conducted a systematic review and meta-analysis of these studies (715 eligible studies in total).Results revealed that the frequencies of the MTHFR C677T and A1298C polymorphisms varied markedly in different areas and ethnicities, and even showed geographical gradients. The MTHFR C677T polymorphism was significantly associated with 42 clinical disorders (p < 0.05), mostly relating to the diseases of circulatory system, birth defects and cancers. The association of the A1298C polymorphism with three diseases (coronary heart disease, breast cancer and neural tube defects fathers) was statistically significant (p < 0.05). However, according to the Venice criteria, only the associations of the C677T polymorphism with breast and ovarian cancers were assessed as having strong epidemiological credibility. This is the first study to provide a comprehensive assessment of the current status and gaps in genetic epidemiological study of the two polymorphisms in China, and its findings may be useful for medical and public health practices. Future studies are warranted to focus on the interactions of MTHFR genes with environmental exposure and with other genes, and to improve their methodological quality and reporting of findings.

Polymorphism of Methylenetetrahydrofolate Reductase (A1298c) as a Risk Factor for Osteoporosis in Post-Menopausal Indonesian Women

“…One reason for the apparent weakness in the tested Indonesian female population could be a countering trend of the possible advantage from a single C allele, demonstrated by the large fraction (>80%) of the AC genotype. However, the observed genotype distribution of the MTHFR polymorphism (A1298C) clearly differs from the distributions reported for other world populations [8,9,[12][13][14][15]. While, in general, agreement regarding the low fraction of the CC genotype (Table 2), the observed genotype distribution is not consistent with the Hardy-Weinberg equilibrium.…”

Association of MTHFR C677T polymorphism with severity and localization of chronic atrophic gastritis patients without Helicobacter pylori infection : a case control study

“…Epigenetic changes such as DNA methylation have a role in cancer development and progression [5] 5,10-Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme in folate metabolism and is involved in DNA, RNA, and protein methylation [6]. The polymorphism C677T in the MTHFR gene has been shown to be associated with various tumors, as this change in sequence reduces the activity of this enzyme [6,7]. Indeed, individuals with the TT and CT genotypes have mildly higher homocysteine levels than CC homozygotes [8].…”

Effect of MTHFR A1298C and MTRR A66G genetic mutations on homocysteine levels in the Chinese population: a systematic review and meta-analysis

“…[2,47,48] Consistent with our results, Yang et al found that it was the MTHFR C677T polymorphism, but not the MTHFR A1289C polymorphism, that was associated with most clinical disorders, including cardiovascular diseases, cancer, and birth defects. [49] The present study has several potential limitations. First, our study was conducted in Chinese populations.…”