贵州省少数民族与汉族人群ACE基因rs4343多态性与心房颤动的相关性

Study on the correlation between ACE gene RS4343 polymorphism and atrial fibrillation in minority and Han populations in Guizhou Province

目的:研究贵州省少数民族和汉族心房颤动(房颤)患者血管紧张素转化酶(ACE)基因rs4343多态性。方法:选取贵州地区医院房颤患者184例为病例组,其中少数民族51例,汉族133例。以年龄和性别为配对条件,选取同期贵州地区医院健康体检中心健康者226例为对照组,其中少数民族96例、汉族130例。采用聚合酶链式反应(PCR)、聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和基因测序方法检测两组人群的ACE基因rs4343基因型及等位基因分布特点。结果:健康对照组ACE基因rs4343多态性在少数民族组和汉族组中基因型分别以AA型和AG型为主,等位基因均以A基因为主;ACE基因rs4343型频率和等位基因频率在房颤组与健康对照组间差异显著(P<0.05),且房颤组G等位基因频率显著高于健康对照组,为健康对照组的1.79倍;少数民族房颤患者ACE基因rs4343以AA型为主,汉族房颤患者ACE基因rs4343以AG型为主,等位基因均以A型为主,基因型频率和等位基因频率差异不具统计学意义。ACE基因rs4343型频率和等位基因频率在少数民族组和汉族组间差异无统计学意义。结论:ACE基因rs4343多态性与房颤显著相关,G等位基因是房颤发生的危险因子。

Objective: To explore the polymorphism of angiotensin converting enzyme RS4343 gene in patients with atrial fibrillation(AF) of ethnic minorities and Han nationality in Guizhou province. Methods: A total of 184 patients with AF in Guizhou were selected as the case group, including 51 patients with ethnic minorities and 133 patients conditions, and 226 healthy patients were selected as control group, including 96 patients with ethnic minorities and 130 patients with Han nationality. Polymerase chain reaction(PCR), PCR-restriction fragment length polymorphism(PCR-RFLP) and gene sequencing were used to detect the distribution Characteristics of ACE gene RS4343. Results: The genotypes of ACE gene rs4343 were AA and AG, and the alleles were A, and there was no significant difference in genotype frequency and allele frequency(P>0.05). The polymorphism of ACE gene RS4343 in healthy control group was dominated by AA and AG genotypes respectively in minority group and Han group, and alleles were dominated by A gene. The genotype frequency and allele frequency of ACE gene RS4343 were significantly different between the atrial fibrillation group was significantly higher than that of the healthy control group(1.79 times). Conclusion: The polymorphism of ACE gen RS4343 is significantly correlated with AF, and G allele is risk factor of AF.