肾上腺素能β_2受体基因多态性与慢性心力衰竭关系的研究  

Correlation of β_2-Adrenergic Receptor Gene Polymorphisms With Heart Failure

作　　者：侯旭敏[1] 范维琥[1] 

机构地区：[1]复旦大学附属华山医院心内科,上海市200040

出　　处：《中国循环杂志》2004年第2期97-99,共3页Chinese Circulation Journal

基　　金：国家"十五"攻关课题资助项目 ( 2 0 0 1BA70 3D1 5)

摘　　要：目的 :在上海地区汉族人群中研究肾上腺素能 β2 受体 (β2 受体 )基因多态性与慢性心力衰竭 (心衰 )的关系。方法 :选取 92例慢性心衰患者 (心衰组 )和 80例健康人 (正常对照组 ) ,进行外周静脉血的脱氧核糖核酸 (DNA)抽提 ,通过多聚酶链式反应扩增后 ,进行 β2 受体基因的测序。结果 :发现β2 受体基因有 4个多态性位点 ,分别为 :16Arg/Gly、2 7Gln/Glu、87LeuA/G、178ArgA/C。其中 2 7Gln/Glu位点在正常对照组中全部表现为C/C基因型 ,而在心衰组中有 7例表现为G/C基因型 ,没有发现G/G基因型 ,两组间基因型和等位基因型的差异均有极显著的统计学意义 (P <0 0 1) ,而其它多态性位点两组间比较差异均无统计学意义 (P >0 0 5 )。结论 :在上海地区汉族人群中 β2 受体基因多态性与心衰密切相关 ,其中 2 7Gln/Glu杂合子可能为心衰的易感基因 ,并且与心衰的严重程度、左心室收缩功能密切相关。Objective:To investigate the association between β_2-adrenergic receptor (β_2AR) gene polymorphisms and chronic heart failure (CHF) in Han nationality of south China. Methods:Genomic DNA was extracted from blood leukocytes from CHF patients ( n =92) and healthy controls ( n =80). The part of the β_2AR gene was amplified by polymerase chain reaction and analysed by automated sequencing. Results:There were four single nucleotide polymorphisms (SNPs) of β_2AR gene: 16 Arg/Gly,27 Gln/Glu,87 LeuA/G and 178 Arg A/C. Mono-locus analysis showed the genotypes of 27 Gln/Glu were all C/C in controls,while there were seven G/C in CHF patients,no G/G was found. The difference of genotype and allele was significant between the two groups ( p <0.01).There was no significant difference between the two groups in the other SNPs ( p >0.05). Conclusion:β_2AR gene polymorphism was associated with CHF in South Chinese Han nationality.And 27 Gln/Glu heterozygote is probably a susceptible genotype of CHF. It is also related to the severity of CHF and left ventricular function.

关 键 词：肾上腺素能β2受体 基因多态性 慢性心力衰竭 病理 单核苷酸 

分 类 号：R541.6[医药卫生—心血管疾病]