2012年11月23日 讯 /生物谷BIOON/ --近来，一项多国家参加的研究项目已经确定了高血压（血压高）的遗传因素。
高血压（血压高）是一种常见的遗传性疾病，高血压是由遗传因素和环境之间的相互作用所导致的。然而，相关的疾病基因难以辨认。这项新的研究已经确定了一个共同的基因突变，该基因调控重要激素：肾上腺醛固酮和皮质醇的产生，进而影响高血压病的发展。
要想确定高血压的遗传机制已被证明是非常困难的，但这项研究表明基因变异是目前40％左右的高血压患者的是一个重要因素。靶向醛固酮的药物已用于治疗高血压，本研究还强调，应该更广泛地使用靶向醛固酮的药物。
我们知道高盐饮食能放大醛固酮的影响，所以这可能为了解遗传变异和环境之间相互作用引发高血压提供了一个重要的线索。研究结果已在公布在美国心脏协会的Hypertension杂志上。（生物谷：Bioon.com）
doi:10.1161/HYPERTENSIONAHA.112.200741
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Common Polymorphisms in the CYP11B1 and CYP11B2 Genes: Evidence for a Digenic Influence on Hypertension
Samantha Alvarez-Madrazo*, Scott M. MacKenzie*, Eleanor Davies, et al.
The locus encompassing the corticosteroidogenic genes CYP11B2 and CYP11B1 is of potential importance in essential hypertension. We analyzed the association of polymorphisms at this locus with risk of essential hypertension, using 2 white case–control collections for discovery (n=3340) and confirmation (n=2929). Single-marker and haplotype analyses were performed, with the CYP11B2 Intron 2 Conversion polymorphism showing strongest association with hypertension in both cohorts and in combined analysis (odds ratio=1.16, P=8.54×10?5). The CYP11B1 ACA haplotype associated with increased risk of hypertension relative to the alternative, GTC (odds ratio=1.11; P=7.4×10?3), whereas the CYP11B2 TWtC haplotype seemed protective relative to the contrasting CConvT (odds ratio=0.88, P=2.2×10?3). Analysis spanning the whole CYP11B1/CYP11B2 locus showed that haplotypes associated with raised risk of hypertension tend to coexist. Functional analysis of heterozygous human adrenal tissue demonstrated decreased CYP11B2 expression and increased CYP11B1 expression for those alleles associating with reduced risk of hypertension. These results confirm the hypertensive influence of this locus, with data suggesting a complex digenic mechanism whereby altered relative CYP11B1 and CYP11B2 gene expression could have a chronic effect on enzyme activity and corticosteroid synthesis.
