MTHFR和MTRR基因多态性与厦门地区冠心病发病的相关性

Correlation of 5,10-methylenetetrahydrofolate reductase and methyltransferase reductase gene polymorphism with occurrence of coronary heart disease in Xiamen area

目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)基因多态性与厦门地区冠心病发病的相关性。方法选择2021年2—12月于厦门大学附属心血管病医院就诊的80例冠心病患者作为冠心病组,另外选择同期80名健康体检者作为对照组。采用聚合酶链反应(PCR)-溶解曲线法检测MTHFR基因C677T位点、MTHFR基因A1298C位点和MTRR基因A66G位点的基因型,比较两组基因型和等位基因分布的差异。结果冠心病组MTHFR C677T位点的CC、CT、TT基因型分布频率分别为40.00%、40.00%、20.00%,对照组MTHFR C677T位点的CC、CT、TT基因型分布频率分别为48.78%、43.75%、7.50%;两组MTHFR C677T位点CC和CT的基因型及等位基因分布频率比较差异均无统计学意义,而冠心病组MTHFR C677T位点的TT基因型分布频率明显高于对照组(20.00%比7.50%,P<0.05)。冠心病组MTHFR A1298C位点的AA、AC、CC基因型分布频率分别为63.75%、30.00%、6.25%,对照组MTHFRA1298C位点的AA、AC、CC基因型分布频率分别为41.25%、52.50%、6.25%;两组MTHFR A1298C位点的CC基因型及等位基因A分布频率比较差异均无统计学意义,而冠心病组和对照组MTHFR A1298C位点AA、AC基因型和等位基因C分布频率比较差异均有统计学意义(AA:63.75%比41.25%,AC:30.00%比52.50%;等位基因C:32.50%比21.25%,均P<0.05)。冠心病组MTRR A66G位点的AA、AG、GG基因型分布频率分别为47.50%、46.25%、6.25%,对照组MTRR A66G位点的AA、AG、GG基因型分布频率分别为52.50%、41.25%、6.25%,两组MTRR A66G 3个基因型及等位基因分布频率比较差异均无统计学意义。结论MTHFR基因C677T位点的TT基因型可能是厦门地区冠心病发生的危险因素,MTRR A1298C位点突变可能是保护性因素,MTRR基因A66G位点基因多态性可能与厦门地区冠心病的发生无关。

Objective To investigate the correlation of 5,10-methylenetetrahydrofolate reductase(MTHFR)and methyltransferase reductase(MTRR)gene polymorphism with occurrence of coronary heart disease(CHD)in Xiamen area.Methods The 80 patients with CHD in Affiliated Cardiovascular Disease Hospital of Xiamen University during February to December 2021 were enrolled as CHD group.Other 80 healthy volunteers were selected from the hospital as control group.The genotypes of MTHFR gene C677T site,MTHFR gene A1298C site and MTRR gene A66G site were detected by polymerase chain reaction(PCR)-dissolution curve method.Results In CHD group,the frequencies of CC,CT and TT genotypes in MTHFR C677T site were 40.00%,40.00% and 20.00%,and in control group,the frequencies of CC,CT and TT genotypes in MTHFR C677T site were 48.78%,43.75% and 7.50%.There was no statistical significance in the distribution frequencies of CC and CT genotypes and allele in C677T site between two groups.The frequency of TT genotype distribution in CHD group was higher than that in control group,with significant difference(20.00%vs.7.50%,P<0.05).In CHD group,the frequencies of AA,AC and CC genotypes in MTHFR A1298C site were 63.75%,30.00% and 6.25%,abd in control group,the frequencies of AA,AC and CC genotypes in MTHFR A1298C site were 41.25%,52.50% and 6.25%.There was no statistical significance in the distribution frequencies of CC genotype and allele A in MTHFR A1298C site between two groups.The distribution frequencies of AC genotype and allele C in MTHFR A1298C between CHD group and control group were significantly different(AA:63.75%vs.41.25%,AC:30.00%vs.52.50%;allele C:32.50%vs.21.25%,all P<0.05).In CHD group,the frequencies of AA,AG and GG genotypes in MTRR A66G site were 47.50%,46.25% and 6.25%,and in control group,the frequencies of AA,AG and GG genotypes in MTRR A66G site were 52.5%,41.25% and 6.25%.There was no statistical significance in genotype distribution or allele frequencies in MTRR A66G site between two groups.Conclusions The TT genotype of MTHFR C677T site maybe a risk factor for CHD,while MTHFR A1298C site mutation may be a beneficial factor.MTRR gene polymorphism in A66G site maybe has no relationship with CHD in the population in Xiamen area.