MTHFR A1298C基因多态性与高尿酸血症的相关性探讨

STUDY ON RELATIONSHIP BETWEEN GENETIC POLYMORPHISMS IN METHYLENETETRAHYDROFOLATE REDUCTASE AND HYPERURICEMIA

目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因A1298C单核苷酸多态性与高尿酸血症(HUA)的关系。方法以聚合酶链反应和限制性片段长度多态性方法对116例高尿酸血症患者和110例正常对照组MTHFR A1298C基因型作比较。结果在高尿酸血症病人中MTHFR 1298AA、AC、CC基因型频率分别为73.3%、23.3%和3.4%,而在正常对照组中分别为70.0%、26.4%和3.6%,两者无显著差异。结论 MTHFR A1298C单核苷酸多态可能与高尿酸血症的遗传易感性无关。

Objective To determine whether the genetic polymorphism in methylene-tetrahydrofolate reductase（MTHFR A1298C） are associated with the risk of hyperuricemia（HUA）. Methods A hospital-based,case-control study consisting of 116 cases of HUA and 110 controls matched on age,sex was conducted to investigate the association between the polymorphism in MTHFR and susceptibility to HUA.Genotypes of MTHFR A1298C were analyzed by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） methods. Results The frequencies of MTHFR1298AA,AC and CC genotypes were 73.3%,23.3% and 3.4% in HUA group and 70.0%,26.4% and 3.6% in the control group respectively.No differences of the frequencies of the MTHFR A1298C genetic polymorphisms had been found between the two groups. Conclusion It is probable that MTHFR A1298C genetic polymorphisms had no correlativity with HUA.