393CC单核苷酸多态性和非瓣膜性房颤的相关性.PDF

·1508 · doi 10.3969/j.issn. 1673-4254.2013.10.21 J South Med Univ, 2013, 33(10): 1508-1511 临床研究 GNASGNAS11 基因基因TT393393CC 单单核苷酸多态性与非瓣膜性房颤的相关性核苷酸多态性与非瓣膜性房颤的相关性 1 2 1 2 1 李 虹 ，胡兆霆 ，谭珍妮 ，侯庆臻 ，彭 健 1 2 南方医科大学 南方医院心内科，广东 广州 510515 ；第三附属医院心内科，广东 广州 510630 摘要：目的分析中国汉族人群Gs 蛋白α亚基基因（GNAS1）T393C单核苷酸多态性（SNP）与非瓣膜性房颤是否存在相关性。方 法分别选取非瓣膜性房颤患者90 例及正常对照90 例，采用PCR-RFLP 分析非瓣膜性房颤患者GNAS1基因T393C 等位基因型 及等位基因频率分布特点，并通过研究其与心率变异性（HRV）的关系，从而分析GNAS1基因T393C 位点与非瓣膜性房颤患者 自主神经活动规律的关系。结果GNAS1基因T393C 多态性等位基因型频率和等位基因频率在两组间比较具有显著性差异 （P0.01），CC 基因型及T393C 等位基因的频率在病例组中显著增高；pNN50、LF、LF/HF 在不同基因型间差异有统计学意义 （P0.05）。结论GNAS1基因T393C SNP 可能与中国汉族人群非瓣膜性房颤的发生有明显的相关性。 关键词：非瓣膜性房颤；GNAS1；单核苷酸多态性；心率变异性 Association of T393C single nucleotide polymorphism of GNAS1 gene with non-valvular atrial fibrillation 1 2 1 2 1 LI Hong , HU Zhaoting , TAN Zhenni , HOU Qingzhen , PENG Jian 1Department of Cardiology, Nanfang Hospital, Guangzhou 510515, China; 2Department of Cardiology, Third Affiliated Hospital, Southern Medical University, Guangzhou 510630, China Abstract: Objective To analyze the association between T393C single nucleotide polymorphism (SNP) of GNAS1 gene and non-valvular atrial fibrillation (AF) in Chinese Han patients. Methods Ninety patients with non-valvular AF and 90 healthy subjects were examined for T393C SNP of GNAS1 gene using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The allele genotypes and the distribution of allele frequencies were analyzed and compared between the two groups. The relationship between allele frequency distribution characteristics and the heart rate variability (HRV) were also studied for analysis of the association between T393C