Wu Hongyan, Tang Wenru, Li Hongwei, Zhou Xuhong, Yang Yang, Yu Haijing, Li Kaiyuan, Xiao Chunjie, Deng Alan Y
Human Genetics Center of Yunnan University, Kunming, Yunnan, People's Republic of China.
J Hypertens. 2006 Jun;24(6):1041-7. doi: 10.1097/01.hjh.0000226193.21311.e1.
The human beta2-adrenergic receptor (ADRB2) gene is a candidate for contributing to the pathophysiology of essential hypertension. The aims of the present study were to investigate the associations of differing single nucleotide polymorphisms (SNPs) and haplotypes of the ADRB2 gene promoter and coding regions with essential hypertension in genetically homogeneous Hani and Yi minority groups that are non-Han Chinese.
Four SNPs in the regulatory and seven SNPs in the coding region were genotyped in 271 essential hypertension individuals and 267 controls, and eight haplotypes in the regulatory and five haplotypes in the coding region were determined and tested for association using the likelihood test statistic.
There were significant associations of essential hypertension with separate SNPs located in both the regulatory and coding regions in the Yi minority group. In contrast, no associations of essential hypertension were detected with any of single SNPs in the Hani minority group. There is a significant difference in haplotype frequency distributions between the hypertensive participants and the controls in two groups (P < 10).
The results indicate that variants at the ADRB2 locus may play a role in the pathophysiology of hypertension specifically in the Yi minority group.
人类β2 - 肾上腺素能受体（ADRB2）基因是原发性高血压病理生理学的一个候选基因。本研究的目的是在非汉族的遗传同质的哈尼族和彝族人群中，研究ADRB2基因启动子和编码区不同单核苷酸多态性（SNP）及单倍型与原发性高血压的关联。
对271例原发性高血压患者和267例对照进行了调控区4个SNP和编码区7个SNP的基因分型，并确定了调控区8个单倍型和编码区5个单倍型，使用似然检验统计量进行关联测试。
彝族人群中，原发性高血压与调控区和编码区中单独的SNP均存在显著关联。相比之下，哈尼族人群中未检测到原发性高血压与任何单个SNP的关联。两组高血压患者与对照组的单倍型频率分布存在显著差异（P < 0.01）。
结果表明，ADRB2基因座的变异可能在高血压的病理生理学中起作用，特别是在彝族人群中。
