Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms: A cross-sectional descriptive study of 13,473 Chinese adult women.

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