KCNE1基因G38S多态性与新疆维吾尔族射血分数减少型慢性心力衰竭的关联性

目的 研究KCNE1基因G38S多态性与新疆维吾尔族慢性心力衰竭（CHF）的关联性。 方法 采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对新疆维吾尔族200例CHF患者（病例组）和200例无CHF患者（对照组）KCNE1基因G38S（rs1805127）多态性进行分析。 结果 KCNE1基因mink G38S多态性AA、AG、GG基因型在病例组为24（12.0%）、89（44.5%）和87（43.5%），对照组分别为37（18.5%）、91（45.5%）和72（36.0%）。等位基因A、G频率在病例组分别为137（34.2%），263（65.8%），对照组分别为165（41.2%），235（58.8%）。两组之间基因型无统计学差异（χ2=4.208，P=0.122），两组的等位基因频率有统计学意义（P<0.05）。经二分类logistic回归分析左室舒张末内径的OR值为1.473，95% CI:（1.357~1.599），QRS时限OR值为1.028，β=0.027，95% CI:（1.009~1.047），性别OR值为2.288，β=0.828，95% CI:（1.059~4.943），冠心病的OR值为3.047，β=1.114 ，95% CI:（1.532~6.063），糖尿病OR值为3.200，β=1.163，95% CI:（1.345~7.562）。基因型AG的OR值为0.489，β=-0.715，95% CI:（0.247~0.966）。 结论 ①维吾尔族CHF患者中KCNE1基因G38S携带G等位基因频率高于对照组（无CHF患者）；②左室舒张末径增加、QRS波时限延长、男性、冠心病、糖尿病均是CHF的危险因素，携带AG基因型的维吾尔族人群发生CHF的风险小，基因型AG可能为CHF的保护因素。

Association between G38S polymorphism of KCNE1 gene and chronic heart failure with reduced ejection fraction of Uygur in Xinjiang

AIM To study the relationship between KCNE1 polymorphism-G38S and chronic heart failure in the Chinese Uygur in Xinjiang. METHODS PCR-restriction fragment length polymorphism (PCR-RFLP) analysis was conducted to detect the genotype of G38S (rs1805127) of the KCNE1 gene in 200 chronic heart failure (CHF) patients and 200 non-CHF subjects (control). RESULTS Polymorphism G38S AA, AG, GG genotype frequencies of KCNE1 were 24 cases (12.0%), 89(44.5%) and 87(43.5%) in CHF group and 37(18.5%), 91(45.5%) and 72(36.0%) in the control group, respectively. A and G allele frequencies were 137(34.2%) and 263 (65.8%) in the CHF group and 165 (41.2%) and 235 (58.8%) in the control group. There were no significant differences between the genotype frequencies of the two groups (χ2=4.208, P=0.122); however, the allele frequency of the two groups was statistically significant (χ2=4.170, P=0.041). Binary classification logistic regression analysis showed that the OR value of left ventricular end-diastolic diameter (LVEDD), QRS interval, gender, coronary heart disease (CHD), diabetes and AG genotype were 1.473 (95%CI:1.357-1.599), 1.028 (β=0.027, 95%CI:1.009-1.047), 2.288 (β=0.828, 95%CI:1.059-4.943), 3.047 (β=1.114, 95%CI:1.532-6.063), 3.200 (β=1.163, 95%CI:1.345-7.562) and 0.489 (β=-0.715, 95%CI:0.247-0.966), respectively. CONCLUSION G38S of KCNE1 in Uighur CHF patients carries higher G allele frequency than that in non-CHF patients. Increase of LVEDD, extension of QRS interval, male, CHD and diabetes are risk factors for CHF. An Uygur carrying the AG genotype has a lower risk of CHF. Therefore, the AG genotype may be a protective factor for CHF.