线粒体融合基因多态性与中国南方客家人群原发性高血压的相关性  

Relationship between mitochondrial fusion gene polymorphism and essential hypertension in Hakka population in southern China

作　　者：杨敏[1] 林佑妮 蔡裕福[1] 石文坚 陈玉宽 李明瑞 YANG Min;LIN Youni;CAI Yufu;SHI Wenjian;CHEN Yukuan;LI Mingrui(Department of Cardiology,The People′s Hospital of Meizhou,Meizhou 514031,Guangdong,China)

机构地区：[1]梅州市人民医院心内四科,广东梅州514031

出　　处：《西部医学》2024年第7期1077-1081,1087,共6页Medical Journal of West China

基　　金：梅州市人民医院科研培育资助项目(PY-C2021027)。

摘　　要：目的探讨线粒体融合基因多态性与中国南方客家人群原发性高血压(EH)的相关性。方法选择2022年7—8月我院心内科收治的100例中国南方客家人群EH患者作为观察组,同时选择同期46例非高血压患者作为对照组。统计两组的一般资料,检测两组外周血样本中线粒体融合基因的多态性,对等位基因频率及Hardy-Weinberg平衡性做分析;通过比值比(OR)和95%可信区间(CI)分析线粒体融合基因多态性与中国南方客家人群EH的相关性。结果观察组和对照组在年龄、甘油三酯(TG)、高密度脂蛋白(HDL)、空腹血糖(FPG)及尿素氮(UN)比较,差异无统计学意义(P>0.05);收缩压(SBP)、舒张压(DBP)、总胆固醇(TC)、血尿酸(UA)、血肌酐(Cr)及低密度脂蛋白(LDL)比较,差异有统计学意义(P<0.05)。基因多态位点rs 11916762和rs 7620017中的AG、rs 2336384中的TT、rs 2236057中的GG、rs 7620342中的GT、rs 11925699中的AA+AG在观察组中的表达高于对照组(P<0.05),且各位点的基因分布符合Hardy-Weinberg平衡规律(P>0.05)。线粒体融合基因的rs 11916762位点、rs 2236057位点和rs 11925699位点的AA和AG基因型、rs 7620017位点的AA和GG基因型、rs 2336384位点的GG基因型、rs 7620342位点的GG、GT和TT与中国南方客家人群EH存在相关性(P<0.05)。结论线粒体融合基因(Mfn 1、Mfn 2、Opa 1)与中国南方客家人群EH存在正相关性,线粒体融合基因作为分子标志在中国南方客家人群EH监测中具有应用价值。Objective To investigate the relationship between mitochondrial fusion gene polymorphism and essential hypertension in Hakka population in southern China.Methods 100 patients with primary hypertension from Hakka people in southern China were selected as the observation group of this study,and 46 non-hypertensive patients in the same period were selected as the control group of this study.The general data of the two groups were collected,and the polymorphism of mitochondrial fusion gene,allele frequency and Hardy Weinberg balance were analyzed.The association between mitochondrial fusion gene polymorphism and essential hypertension in Hakka population in southern China was analyzed by Odds ratios(OR)and 95%Confidence interval(CI).Results There was no significant difference in age,TG,HDL,FPG,UA,Cr and UN between the observation group and the control group(P>0.05).There were significant differences in SBP,DBP,TC and LDL(P<0.05).The expression of AG in rs11916762 and rs 7620017,TT in rs 2336384,GG in rs 2236057,GT in rs 7620342 and AA+AG in rs 11925699 in the observation group was higher than that in the control group(P<0.05).The gene distribution of each site was consistent with Hardy-Weinberg equilibrium law(P>0.05).The AA and AG genotypes at rs 11916762,rs 2236057 and rs 11925699,the AA and GG genotypes at rs 7620017,the GG genotypes at rs 2336384,and the GG,GT and TT at rs 7620342 of mitochondrial fusion genes were associated with the southern Chinese gene.There was correlation between essential hypertension in family(P<0.05).Conclusion There is a positive correlation between mitochondrial fusion genes(Mfn 1,Mfn 2,Opa 1)and essential hypertension in the Hakka population in southern China.Mitochondrial fusion genes as molecular markers have application value in the monitoring of essential hypertension in the Hakka population in southern China.

关 键 词：线粒体融合基因 多态性 中国南方客家人群 原发性高血压 相关性 

分 类 号：R544.11[医药卫生—心血管疾病]