Relationship of Plasma Homocysteine with Gene Polymorphisms of MTHFR and MTRR among Han Women in Xiangtan City

Objective To investigate the relationship of plasma homocysteine with the genotype distribution ofMTHFR and MTRR among Chinese Han women in Xiangtan. Methods MTHFR C677 T, A1298 C and MTRR A66 G geno-typing was analyzed to detect the distribution of gene polymorphisms among 1 701 women from Xiangtan city then the datawere compared with the rest of the Han women in Zibo, Zhengzhou, Yantai, Zhenjiang, Songzi, Huizhou, Qionghai. PlasmaHcy levels from 110 patients were measured and analyzed the correlation with gene polymorphisms. Results The frequencyof MTHFR C677 T genotype and allele frequencies in Xiangtan is 12.6% which is higher than Huizhou(10.9%) and Qionghai(6.1%) but lower than Zibo(43.6%), Zhengzhou(36.8%), Yantai(32.2%), Zhenjiang(21.8%) with statistically significant dif-ference(P 0.05). There is no significant different in MTHFR C677 T between Xiangtan and Songzi. The frequency of MTH-FR A1298 C genotype and allele frequencies in Xiangtan is 4.8% which is lower than Qionghai(7.1%)but higher than Zibo(1.4%),Zhengzhou(2.4%), Yantai(1.8%), Zhenjiang(3.5%)and Songzi(2.6%)with statistically significant difference.The frenquency of MTRR A66 G genotype and allele frequencies in Xiangtan is 6.8% which is higher than Zibo(4.8%) butlower than Qionghai(9.3%) with statistically signifcant difference. Plasma Hcy concentration correlate with MTHFR C677 T,Hcy concentration in TT population is higher than that in CT and CC population(μmol/L:8.52±2.01 vs 5.94±1.47 vs 5.71±0.18);Plasma Hcy concentration also correlate with MTHFR A1298 C and Hcy concentration in CC population is higherthan AA and AC population(μmol/L: 9.83±2.26 vs 6.35±2.13 vs 5.55±1.75);Plasma Hcy concentration does not correlatewith MTRR A66 G. Conclusion The gene polymorphism of MTHFR C677 T, A1298 C and MTRR A66 G among the Han women in Xiangtan was statistically different from other selected regions of China. Mutation in MTHFR C677 T and A1298 Cwere associated with elevated plasma levels of Hcy.