MTHFR基因C677T位点单核苷酸多态性与深圳地区原发性高尿酸血症相关性研究

Correlation between single nucleotide polymorphisms at the C677T site of MTHFR gene and primary hyperuricemia in Shenzhen

目的探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolatereductase,MTHFR)基因C677T位点单核苷酸多态性(singlenucleotidepolymorphisms,SNP)与深圳地区原发性高尿酸血症(Essentialhyperuricemia,EHUA)之间的相关性。方法选取2017年3月～2018年8月来深圳市龙华区人民医院就诊并确诊为EHUA患者612例为EHUA组,并选取同期来医院体检的健康人群360例为对照组,采用聚合酶链反应扩增和芯片杂交显色技术检测MTHFR基因C677T位点基因多态性,并对检测结果进行统计分析。结果两组人群MTHFR基因C677T位点基因多态性均检出TT、TC和CC3种基因型,基因型频率经Hardy-Weiberg检验,均符合Hardy-Weinberg平衡,随机抽样具有人群代表性;EHUA组MTHFR基因C677T位点TT基因型及T等位基因频率分别为57.03%和71.90%,明显高于对照组的14.17%和29.86%,差异均有统计学意义(χ~2=4.6217～5.0243,P<0.05);EHUA男性患者MTHFR基因C677T位点TT、TC基因型及T等位基因频率均高于女性患者,差异均有统计学意义(χ~2=2.0952～2.8164,P<0.05),而EHUA男性患者MTHFR基因C677T位点CC基因型及C等位基因频率均低于女性患者,差异有统计学意义(χ~2=2.7903～4.1056,P<0.05)。结论 MTHFR基因C677T位点多态性分布与深圳地区EHUA发病有一定的相关性,其中TT基因型及T等位基因可能是导致EHUA发病的危险基因,且男性风险高于女性。

Objective:To investigate the correlation between the single nucleotide polymorphisms(SNP)at the C677 T site of the methamphetamine tetrahydrofolate reductase(MTHFR)gene and Essential hyperuricemia(EHUA)in shenzhen.Method:selection in March 2017 to August 2018 to shenzhen longhua district people’s hospital and confirmed for 612 cases of patients with EHUA for EHUA group,and selected at the same time to the hospital physical examination of 360 cases of healthy people as control group,using polymerase chain reaction amplification and chip hybridization color technology to detect MTHFR gene C677 T gene loci polymorphism,and the testing results were analyzed.Results:TT,TC and CC3 genotypes were detected by the polymorphisms of the MTHFR C677 T loci in both groups.The frequencies of the genotype were all in line with the balance of Hardy-Weinberg and the random sampling was representative of population.TT genotype and T allele frequency of the MTHFR C677 T site in the EHUA group were 57.03% and 71.90%,respectively,significantly higher than the 14.17% and 29.86% of the control group,with statistically significant differences(χ~2=4.6217~5.0243,P<0.05).The MTHFR C677 T loci TT,TC genotype and T allele frequency were higher in the male patients of EHUA than in the female patients,and the difference was statistically significant(χ~2=2.0952~2.8164,P<0.05),while the MTHFR C677 T loci CC genotype and C allele frequency were lower in the male patients of EHUA,and the difference was statistically significant(χ~2=2.7903~4.1056,P<0.05).Conclusion:The polymorphisms distribution of the MTHFR C677 T locus is correlated with the EHUA in shenzhen area,in which TT genotype and T allele may be the risk genes leading to the onset of EHUA,and the risk is higher in males than in females.