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  

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

作　　者：方舒[1,2] 姚娟 高洁[1] FANG Shu;YAO Juan;GAO Jie(Department of Cardiology,People＇s Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830000,Xinjiang,China;Medical School,Shihezi University,Shihezi 832003,Xinjiang,China)

机构地区：[1]新疆维吾尔自治区人民医院心内科,新疆乌鲁木齐830000 [2]石河子大学医学院,新疆石河子832003

出　　处：《心脏杂志》2018年第5期553-557,共5页Chinese Heart Journal

基　　金：国家自然科学基金项目资助(81360045)

摘　　要：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。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 ）, 5.047 （ 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.

关 键 词：心力衰竭 慢性 KCNE1 G38S 维吾尔族 

分 类 号：R541.61[医药卫生—心血管疾病]