四川南充市健康体检者同型半胱氨酸代谢酶基因多态性分布及其水平关联

目的研究南充市汉族人群同型半胱氨酸(Hcy)代谢关键酶基因多态性的分布及与Hcy水平的关联。方法以在南充市中心医院的汉族人群470人为研究对象,抽取受检者血样,收集研究对象一般临床资料,采用循环酶法测定血浆Hcy水平,提取基因组DNA后进行SNP基因多态性检测,分析Hcy代谢关键酶MTHFR C677T、MTHFR A1298C、MTR A2756G、MTRR A66G基因多态性分布情况及与Hcy水平的关系。结果高同型半胱氨酸血症(HHcy)检出率为34.68%,MTHFR C677T T等位基因增加HHcy患病风险,T等位基因人群患HHcy的风险是C等位基因的1.654倍,MTHFR C677T不同基因型的Hcy水平间差异有统计学意义(P<0.05),MTHFR C677T突变纯合型TT和杂合型CT分别增加HHcy患病风险2.977倍和1.917倍。结论MTHFR C677T杂合型CT和突变纯合型TT增加HHcy患病的风险。

Correlation of homocysteine levels with gene polymorphisms of homocysteine metabolic enzymes in physical examination in Nan Chong

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.