2012年11月23日 訊 /生物谷BIOON/ --近來(lái),，一項(xiàng)多國(guó)家參加的研究項(xiàng)目已經(jīng)確定了高血壓（血壓高）的遺傳因素,。
高血壓（血壓高）是一種常見(jiàn)的遺傳性疾病，高血壓是由遺傳因素和環(huán)境之間的相互作用所導(dǎo)致的,。然而,，相關(guān)的疾病基因難以辨認(rèn)。這項(xiàng)新的研究已經(jīng)確定了一個(gè)共同的基因突變,，該基因調(diào)控重要激素：腎上腺醛固酮和皮質(zhì)醇的產(chǎn)生,，進(jìn)而影響高血壓病的發(fā)展。
要想確定高血壓的遺傳機(jī)制已被證明是非常困難的,，但這項(xiàng)研究表明基因變異是目前40％左右的高血壓患者的是一個(gè)重要因素,。靶向醛固酮的藥物已用于治療高血壓，本研究還強(qiáng)調(diào),，應(yīng)該更廣泛地使用靶向醛固酮的藥物,。
我們知道高鹽飲食能放大醛固酮的影響，所以這可能為了解遺傳變異和環(huán)境之間相互作用引發(fā)高血壓提供了一個(gè)重要的線(xiàn)索,。研究結(jié)果已在公布在美國(guó)心臟協(xié)會(huì)的Hypertension雜志上,。（生物谷：Bioon.com）
doi:10.1161/HYPERTENSIONAHA.112.200741
PMC:
PMID:
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.
