SCN5A、SCN1B基因多态性与心房颤动的关系研究  

Relationship between SCN5A,SCN1B gene polymorphisms and atrial fibrillation

作　　者：蔡春雨 何凤珍 余电有 何斌 权里平 言纬 张震[2] 韦勤将 黄显南[2] 刘莉 Cai Chunyu;He Fengzhen;Yu Dianyou;He Bin;Quan Liping;Yan Wei;Zhang Zhen;Wei Qinjiang;Huang Xiannan;Liu Li(Graduate School,Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China;Department of Cardiology,The Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China)

机构地区：[1]右江民族医学院研究生学院,广西百色533000 [2]右江民族医学院附属医院心血管内科,广西百色533000

出　　处：《右江民族医学院学报》2022年第6期806-813,共8页Journal of Youjiang Medical University for Nationalities

基　　金：广西自然科学基金项目(2018GXNSFBA050059);广西高校中青年教师基础能力提升项目(2021KY0534)。

摘　　要：目的探索SCN5A、SCN1B基因多态性与心房颤动(atrial fibrillation,AF)发生的关系。方法对中国广西人群105例AF患者血样和105例正常对照样本提取基因组DNA进行测序,确定突变位点并进行Sanger测序及验证,分析各位点基因型和等位基因频率,与PubMed数据库公布的千人基因组计划进行种族比较。结果共检测到6个多态性位点,其中SCN5A基因rs1805124 AF组等位基因分布与对照组之间差异有统计学意义,并且与全球、非洲、东亚、欧洲、南亚、美洲地区人群分布频率差异有统计学意义(P<0.05)。结论广西少数民族人群中SCN5A rsrs1805124基因位点存在基因多态性,并与其他种族地区存在基因遗传异质性。Objective To explore the association of SCN5A and SCN1B gene polymorphisms with the occurrence of atrial fibrillation(AF).Methods Genomic DNA was extracted for sequencing from blood samples of 105 AF patients and 105 normal healthy people in Guangxi,China.The mutation sites were identified and they were sequenced and verified by Sanger.The genotypes and allele frequencies of each locus were analyzed.They were compared with the data about other ethnics published in Pubmed on Thousand Genomes Project.Results A total of 6 polymorphic sites were detected,in which the genotype and allele distribution of SCN5A gene rs1805124 had significant difference from that of the control group.And there was significant difference in population distribution frequency,in comparison with global,African,East Asia,European,South Asia and American populations(P<0.05).Conclusion There are gene polymorphisms in the gene loci of SCN5A rs1805124 in Guangxi minority population.There is genetic heterogeneity compared with other ethnic regions.

关 键 词：心房颤动 心脏钠通道基因 钠离子通道β1亚基 多态性 单核苷酸 多因子遗传 

分 类 号：R541.75[医药卫生—心血管疾病]