文章摘要
KCNA5基因多态性与特发性房颤的关系
Relationship between KCNA5 gene polymorphism and idiopathic atrial fibrillation
投稿时间:2019-10-15  
DOI:10.3969/j.issn.1000-0399.2020.02.001
中文关键词: 特发性房颤  KCNA5  单核苷酸多态性
英文关键词: Idiopathic atrial fibrillation  KCNA5  Single nucleotide polymorphism
基金项目:国家自然科学基金项目(项目编号:81560042)
作者单位E-mail
陈道虎 570311 海南海口 海南医学院第二附属医院心血管外科  
刘辉 571199 海南海口 海南医学院解剖教研室 huiliufaguo@163.com 
何书武 570311 海南海口 海南医学院第二附属医院心血管外科  
黄茂芹 570311 海南海口 海南医学院第二附属医院心血管内科  
葛广全 570311 海南海口 海南医学院第二附属医院心血管外科  
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中文摘要:
      目的 探讨KCNA5基因单核苷酸多态性(SNP)与特发性房颤(IAF)的关系。方法 选取2015年1月至2018年12月海南医学院第二附属医院收治的204例IAF患者(IAF组)作为研究对象,并以性别、年龄作为匹配因子收集200例体检健康者作为对照组。采用基因测序法检测两组研究对象KCNA5 SNP(rs3741930、rs1056468)的分布,基于不同基因型(rs3741930、rs1056468)将IAF患者分为两组,比较IAF患者不同基因型相关临床指标的差异。结果 ①KCNA5基因rs3741930位点CC、CT、TT在IAF组、对照组中实际分布与预期分布对比,差异均无统计学意义(P>0.05),KCNA5基因rs1056468位点AA、AT、TT在IAF组、对照组中实际分布与预期分布对比,差异均无统计学意义(P>0.05);②IAF组rs3741930位点CC基因型和等位基因C分布频率高于对照组,差异有统计学意义(P<0.05),两组研究对象CT、TT基因型频率对比,差异无统计学意义(P>0.05);IAF组rs1056468位点AA、AT、TT和等位基因A分布频率与对照组对比差异均无统计学意义(P>0.05);③IAF患者rs3741930位点CC与CT+TT基因型年龄、舒张压、收缩压、心率、左心房内径、射血分数对比,差异均无统计学意义(P>0.05),CC基因型患者体质量指数(BMI)高于CT+TT基因型,差异有统计学意义(P<0.05);IAF患者rs1056468位点AA与AT+TT基因型年龄、舒张压、收缩压、心率、左心房内径、射血分数对比,差异均无统计学意义(P>0.05),AA基因型患者BMI低于AT+TT基因型,差异有统计学意义(P<0.05)。结论 KCNA5基因SNP rs3741930与IAF发病有关,C等位基因携带人群更易患病。
英文摘要:
      Objective To explore the relationship between single nucleotide polymorphism (SNP) of KCNA5 gene and idiopathic atrial fibrillation (IAF). Methods A total of 204 patients with IAF (IAF group) who were admitted between January 2015 and December 2018 were selected for the study. The gender and age were used as matching factors to collect 200 healthy examiners as control group. The distribution of KCNA5 SNP (rs3741930, rs1056468) was detected by gene sequencing in two groups. The patients were divided into two groups based on different genotypes (rs3741930, rs1056468). The differences in related clinical indicators were compared among IAF patients of different genotypes. Results There were no significant differences in the actual distribution and expected distribution of CC, CT and TT in rs3741930 locus of KCNA5 gene between IAF group and control group (P>0.05), and there were no statistically significant differences in the actual distribution and expected distribution of AA, AT and TT in rs1056468 locus of KCNA5 genebetween IAF group and control group (P>0.05). The frequencies of CC genotype and allele C distribution in rs3741930 locus in IAF group were higher than those in control group (P<0.05), and there were no significant differences in the frequencies of CT and TT genotypes between the two groups (P>0.05). No significant differences were detected in the frequencies of AA, AT, TT and allele A distribution in rs1056468 locus between IAF group and control group (P>0.05).No significant differences were found in the age, diastolic blood pressure, systolic blood pressure, heart rate, left atrial diameter and ejection fraction between IAF patients with CC genotype and CT+TT genotype in rs3741930 locus (P>0.05), and the body mass index (BMI)of CC genotype was higher than that of CT+TT genotype (P<0.05). There were no significant differences in the age, diastolic blood pressure, systolic blood pressure, heart rate, left atrial diameter and ejection fraction between IAF patients with AA genotype and AT+TT genotype in rs1056468 locus (P>0.05), and the BMIof AA genotype was lower than that of AT+TT genotype (P<0.05). Conclusion The rs3741930 of KCNA5 gene SNP is associated with the pathogenesis of IAF, and the people with C allele are more susceptible to disease.
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