贵州省黔西南地区苗族与汉族心房颤动患者KCNE1-S38G单核苷酸多态性研究

Analysis of Single Nucleotide Polymorphism of KCNE1-S38G of Patients with Atrial Fibrillation of Miao and Han People in Southwest of Guizhou

目的:探讨贵州黔西南苗族和汉族心房颤动(AF)患者与钾离子通道基因(KCNE1-S38G)单核苷酸多态性的关系。方法:135例黔西南地区AF患者,按民族分为苗族组(50例)和汉族组(85例),组内再按性别分组;将两组患者年龄、性别、高血压、血糖、冠心病、左房内径、左室射血分数、吸烟、饮酒纳入AF危险因素分析;采用聚合酶链反应和限制性内切酶片段长度多态性方法研究苗族和汉族患者KCNE1-S38G基因型及等位基因频率,比较两组不同性别AF患者的KCNE1-S38G基因型及等位基因频率分布。结果:苗族组AF患者发病年龄、高血压发病率、饮酒率、左房内径值低于汉族组,而左室射血分数高于汉族组(P<0.05);苗族组AF患者基因型频率以SS为主,汉族以SG为主,等位基因均以S为主;两组患者基因型频率、等位基因频率比较,差异有统计学意义(P<0.05);组内按性别分组,苗族组女性和男性患者KCNE1-S38G基因型以SS型为主,汉族组以SG型为主;两组女性和男性患者等位基因以S为主,组内基因型和等位基因频率按性别比较,差异无统计学意义(P>0.05)。结论:贵州黔西南地区苗族和汉族AF患者KCNE1-S38G基因型和等位基因分布频率存在差异,差异不受男女性别影响。

Objective： To explore the association between atrial fibrillation （AF） and single nucleo- tide polymorphism （SNP） of KCNE1-S38G in minority and Han people of Southwest in Guizhou. Methods： 135 cases of patients with AF were divided into Miao group and Han group, and in Miao and Han group the patients were divided into male group and female group. The age, sex, hyperten- sion, blood sugar, coronary heart disease, left atrial diameter, left ventricular ejection fraction, smok- ing, alcohol drinking of 2 groups of patients were included into the AF risk factors analysis. PCR and restriction endonuclease fragment length polymorphism （PCR-RFLP） were adopted to analyze KCNE1- S38G gene type and allele frequencies in Miao and Han people, and KCNE1-S38G gene type and al- lele frequencies distribution of AF patients of different sex were compared. Results： In Miao people,the age at onset, incidence of hypertension, rate of alcohol drinking and left atrial diameter were signif- icantly lower than their counterparts in Han people while left ventricular ejection fraction of Miao peo- ple was significantly higher than that of Hans people（P 〈 0.05）. In Miao people, KCNE1-S38G geno- type frequency were mainly SS while in Han people mainly SG. Allele frequencies were mainly S in Miao and Han AF patients. There were statistically significant differences in KCNE1-S38G genotype frequency and allele frequency between Mia.o and Han AF patients （P 〈 0.05 ）. In male and female of Miao AF patients, KCNE1-S38G genotype frequencies were mainly SS while in male and female of Han AF patients mainly SG. Allele frequencies in male and female of both Miao and Han AF patients were mainly S. There were no statistically, significant differences in KCNE1-S38G genotype frequency and allele frequency between male and female of both Miao and Han AF patients （P 〉 0.05 ）. Conclu- sions： Differences can be found in distribution of KCNE1-S38G genotype and allele frequency between Miao and Hans AF patients in Southwest of Guizhou, and the differences are not affected by gender.