Correlation of homocysteine levels with gene polymorphisms of homocysteine metabolic enzymes in physical examination in Nan Chong / 公共卫生与预防医学

ABSTRACT

Objective To study the correlation of plasma homocysteine (Hcy) levels with the gene polymorphisms of homocysteine metabolic enzymes in physical examination in Nan Chong. Methods A cross-sectional study design was adopted. A total of 470 Han people who received physical examination in the outpatient clinic of Nanchong Central Hospital were enrolled in this study. Blood samples were collected from the research subjects, and general clinical data of the subjects were collected. The plasma Hcy level was determined by a commercial homocysteine assay kit. Genomic DNA was extracted, and a newly-developed technology (improved Multiplex Ligation Detection Reaction, iMLDR) was used to detect target genes and SNPs. The gene polymorphism of Hcy metabolism enzymes MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G was detected, and its correlation with plasma levels of Hcy was analyzed. Results (1) The distribution frequency of the heterozygous genotype of MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G was 46.38%, 35.32%, 17.45%, and 40.85%, while the distribution frequency of the homozygous genotype was 12.13%, 4.04%, 1.49%, and 7.66%, respectively. There was no statistically significant difference in allele frequencies between male and female populations by chi-square test (2) The detection rate of hyperhomocysteinemia (HHcy) was 34.68%. There was significant difference in the levels of plasma Hcy among the three genotypes of MTHFR C677T, and the heterozygous genotype and homozygous genotype of MTHFR C677T increased the risk of HHcy by 2.97 times and 1.917 times, respectively. The genotypes of MTHFR A1298C, MTR A2756G, and MTRR A66G were not found to be correlated with the risk of HHcy. Conclusion MTHFR C677T CT and TT genotypes elevate the plasma Hcy level. The gene polymorphisms of MTHFR A1298C, MS A2756G and MTRR A66G are not risk factors for HHcy.