β_2肾上腺能受体基因单倍型与心力衰竭的关系  

The study of correlation with β_2-adrenergic receptor gene haplotype and heart failure

作　　者：侯旭敏[1] 方唯一[1] 范维琥[2] 

机构地区：[1]上海市胸科医院心内科,200030 [2]复旦大学附属华山医院心内科,上海200040

出　　处：《复旦学报（医学版）》2006年第2期153-156,共4页Fudan University Journal of Medical Sciences

基　　金：国家"十五"攻关课题(2001BA703D15)项目资助

摘　　要：目的研究β2肾上腺能受体(β2-adrenergic receptor,β2AR)基因单倍型与慢性心力衰竭的关系。方法选取南方汉族92例心衰患者和80名健康对照,进行外周静脉血的DNA抽提,通过聚合酶链反应扩增后,进行β2AR基因的测序,对所得出的单核苷酸多态性位点进行单倍型分析。结果发现β2AR基因有4个单核苷酸多态性位点,分别为:16Arg/Gly2、7Gln/Glu、87Leu A/G、178Arg A/C;其中病例组中16G-27C-87G单倍型频率明显降低,两组间的差异有显著性(P<0.01);而其他的单倍型在两组间的差异无显著性(P>0.05)。结论南方汉族人群中β2AR基因多态性与心衰密切相关,其中16G-27C-87G单倍型可能为保护性连锁单倍型,是心衰的抗病单倍型。Purpose To investigate the association between the β2-adrenergic receptor （β2AR） gene haplotype and chronic heart failure （CHF） in southern Chinese Han population. Methods Genomic DNA was extracted from blood leukocytes from patients with CHF （n = 92） and from healthy controls （n = 80）. The part of the β2 AR gene was amplified by polymerase chain reaction and analysed by automated sequencing. The resulting single nucleotide polymorphisms （SNPs） were all analysed by haplotype analysis. Results There were four SNPs of 132AR gene： 16Arg/Gly, 27Gln/Glu, 87LeuA/G and 178ArgA/C. The haplotype analysis showed the frequency of 16G-27C-87G in CHF patients was significantly decreased as compared with controls （P〈0.01）. There were no significant difference between two groups of other haplotypes （P〉0.05）. Conclusions The β2AR gene polymorphisms was associated with CHF in southern Chinese Han population, and the 16G-27C-87G is probably a protecting haplotype of CHF.

关 键 词：心力衰竭 β2肾上腺能受体 基因 单倍型 

分 类 号：R541.61[医药卫生—心血管疾病] Q343.17[医药卫生—内科学]