钾离子通道β亚基KCNE家族基因多态性与心房颤动易感性的相关性研究

Association study between the KCNE family gene polymorphisms of potassium channel gene and the susceptibility of atrial fibrillation

目的探索钾离子通道β亚基KCNE家族基因多态性与心房颤动易感性的相关性。方法在2019年1至12月上海中医药大学附属普陀医院心血管内科就诊患者中选取338例心房颤动患者作为研究组,于同期在本院体检人群中选取健康人310名作为对照组。运用DNA测序技术及聚合酶链反应(PCR)检测KCNE1基因rs1805127位点,KCNE2基因rs9984281位点,KCNE3基因rs9516、rs626930位点和KCNE4基因rs12621643位点基因型及等位基因频率,比较两组对象上述基因型及等位基因频率差异,分析KCNE基因各单核苷酸多态性位点等位基因与心房颤动易感性的相关因素。结果心房颤动组和对照组对象年龄分别为(69±13)和(73±8)岁(P=0.077),男性分别占57.70%(195例)、40.00%(124例)(P=0.092)。KCNE1基因rs1805127位点等位基因C、KCNE2基因rs9984281位点等位基因A和KCNE4基因rs12621643位点等位基因G在两组对象间分布频率差异有统计学意义(rs1805127位点P=0.004,rs9984281位点P=0.001,rs12621643位点P=0.001)。校正性别、吸烟、高血压、心功能不全等因素后,发现上述3个基因位点频率增加会提高心房颤动患病风险,rs1805127、rs9984281和rs12621643位点的OR值(95%CI)分别为7.064(1.559~31.997)、4.210(1.118~15.850)、2.679(1.025~6.998),均P<0.05。结论 KCNE1基因rs1805127位点、KCNE2基因rs9984281位点和KCNE4基因rs12621643位点单核苷酸多态性与心房颤动易感性存在相关性。

Objective To investigate the relationship between KCNE family gene polymorphisms of potassium channel gene and the susceptibility of atrial fibrillation(AF).Methods In the case-control study,a total of 648 subjects were studied,of which 338 patients with atrial fibrillation were selected from the Department of Cardiovascular Medicine,Putuo Hospital Affiliated to Shanghai University of Traditional Chinese Medicine from January 2019 to December 2019,and 310 healthy people were selected from the physical examination population during the same period.DNA sequencing technology and polymerase chain reaction(PCR)were used to detect the genotype and allele frequency of rs1805127 of KCNE1,rs9984281 of KCNE2,rs9516,rs626930 of KCNE3 and rs12621643 of KCNE4.Results The ages of subjects in atrial fibrillation group and control group were(69±13)and(73±8)years,respectively(P=0.077).Men subjects accounted for 57.70%(195 men)and 40.00%(124 men)in the two groups,respectively(P=0.092).The distribution frequencies of the allele C at rs1805127 of gene KCNE1,the allele A at rs9984281 of gene KCNE2 and the allele G at rs12621643 of gene KCNE4 were significantly different between groups(P<0.05).After adjustment for sex,smoking,hypertension,cardiac insufficiency and other factors,it was found that the increase in the frequency of the above three loci would increase the risk of atrial fibrillation(rs1805127 OR=7.064,95%CI:1.559-31.997;rs9984281 OR=4.210,95%CI:1.118-15.850;rs12621643 OR=2.679,95%CI:1.025-6.998).Conclusion The rs1805127 of KCNE1,the rs9984281 of KCNE2,the rs12621643 of KCNE4 were significantly associated with the susceptibility to atrial fibrillation.