β2-肾上腺素能受体基因多态性与北方汉族人群高血压的关联研究。
Association study of the β2-adrenergic receptor gene polymorphisms and hypertension in the Northern Han Chinese.
机构信息
Department of Hypertension Research, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, People's Republic of China.
出版信息
PLoS One. 2011 Apr 5;6(4):e18590. doi: 10.1371/journal.pone.0018590.
BACKGROUND
The β2-adrenergic receptor (ADRB2) gene has been widely researched as a candidate gene for essential hypertension (EH), but no consensus has been reached in different ethnicities. The aim of the present study was to evaluate the possible association between the ADRB2 gene polymorphisms and the EH risk in the Northern Han Chinese population.
METHODOLOGY/PRINCIPAL FINDINGS: This study included 747 hypertensive subjects and 390 healthy volunteers as control subjects in the Northern Han Chinese. Genotyping was performed to identify the C-47T, A46G and C79G polymorphisms of the ADRB2 gene. G allelic frequency of A46G polymorphism was significantly higher in hypertensive subjects (P = 0.011, OR = 1.287, 95%CI [1.059-1.565]) than that in controls. Significant association could also be found in dominant genetic model (GG+AG vs. AA, P = 0.006, OR = 1.497, 95%CI [1.121-1.998]), in homozygote comparison (GG vs. AA, P = 0.025, OR = 1.568, 95%CI [1.059-2.322]), and in additive genetic model (GG vs. AG vs. AA, P = 0.012, OR = 1.282, 95%CI [1.056-1.555]). Subgroup analyses performed by gender suggested that this association could be found in male, but not in female. Stratification analyses by obesity showed that A46G polymorphism was related to the prevalence of hypertension in the obese population (GG vs. AG vs. AA, P<0.001, OR = 1.645, 95%CI [1.258-2.151]). Significant interaction was found between A46G genotypes and body mass index on EH risk. No significant association could be found between C-47T or C79G polymorphism and EH risk. Linkage disequilibrium was detected between the C-47T, A46G and C79G polymorphisms. Haplotype analyses observed that the T-47-A46-C79 haplotype was a protective haplotype for EH, while the T-47-G46-C79 haplotype increased the risk.
CONCLUSIONS/SIGNIFICANCES: We revealed that the ADRB2 A46G polymorphism might increase the risk for EH in the Northern Han Chinese population.
背景
β2-肾上腺素能受体（ADRB2）基因已被广泛研究为原发性高血压（EH）的候选基因，但在不同种族中尚未达成共识。本研究的目的是评估 ADRB2 基因多态性与北方汉族人群 EH 风险之间的可能关联。
方法/主要发现：本研究纳入了 747 名高血压患者和 390 名健康志愿者作为北方汉族对照。通过基因分型鉴定 ADRB2 基因的 C-47T、A46G 和 C79G 多态性。高血压患者 A46G 多态性的 G 等位基因频率明显高于对照组（P=0.011，OR=1.287，95%CI[1.059-1.565]）。在显性遗传模型（GG+AG vs. AA，P=0.006，OR=1.497，95%CI[1.121-1.998]）、纯合子比较（GG vs. AA，P=0.025，OR=1.568，95%CI[1.059-2.322]）和加性遗传模型（GG vs. AG vs. AA，P=0.012，OR=1.282，95%CI[1.056-1.555]）中也存在显著相关性。按性别进行亚组分析表明，这种相关性仅存在于男性，而不存在于女性。按肥胖分层分析显示，A46G 多态性与肥胖人群的高血压患病率有关（GG vs. AG vs. AA，P<0.001，OR=1.645，95%CI[1.258-2.151]）。在 EH 风险方面，A46G 基因型与体重指数之间存在显著的交互作用。C-47T 或 C79G 多态性与 EH 风险无显著关联。C-47T、A46G 和 C79G 多态性之间存在连锁不平衡。单体型分析观察到 T-47-A46-C79 单体型是 EH 的保护性单体型，而 T-47-G46-C79 单体型增加了风险。
结论
我们揭示了 ADRB2 A46G 多态性可能增加北方汉族人群 EH 的风险。
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