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首页> 外文期刊>Annals of Human Genetics >Evidence for association of polymorphisms in CYP2J2 and susceptibility to essential hypertension.
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Evidence for association of polymorphisms in CYP2J2 and susceptibility to essential hypertension.

机译:CYP2J2基因多态性与原发性高血压的易感性相关的证据。

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摘要

OBJECTIVE: Evidence from animal models and human studies suggests that CYP2J2 plays a mechanistic role in the development of hypertension. The present study aims to investigate the potential genetic contribution of the CYP2J2 gene to the etiology of essential hypertension (EH) and individual blood pressure. METHODS: We selected eight polymorphisms in/or around the CYP2J2 gene and performed a case-control association study involving 841 Han Chinese subjects, including 415 unrelated hypertensives and 426 age-, gender- and area-matched normotensives. RESULTS: Three functionally identified variants (CYP2J2 *2, *7 and CYP2J2 *8) and SNP rs11572182 represented rare polymorphisms in Han Chinese. However, the difference in rs1155002 genotype distribution between hypertensive and healthy subjects was close to significance (P = 0.06) in the whole sample. Interestingly, significant evidence for an association with rs1155002 was found in females when stratified by gender. In females, the TT homozygote of rs1155002seems to be a risk factor for hypertension (p = 0.014). In addition, ANOVA analysis suggested TT carriers had significantly higher systolic blood pressure (p = 0.016). The genotype frequencies for rs10493270, rs1180273 and rs1324491 revealed no statistically significant differences. Likewise, four-marker haplotype frequencies showed no significant differences between cases and controls. CONCLUSION: Our data provide strong evidence that the CYP2J2 gene is a susceptibility factor for essential hypertension, especially in females, and influences individual systolic blood pressure in the Chinese Han population.
机译:目的:来自动物模型和人体研究的证据表明,CYP2J2在高血压的发生中起机械作用。本研究旨在调查CYP2J2基因对原发性高血压(EH)和个人血压的病因的潜在遗传贡献。方法:我们选择了CYP2J2基因内部或周围的8个多态性,并进行了一项病例对照关联研究,涉及841名汉族受试者,包括415名无关的高血压患者和426名年龄,性别和地区匹配的血压正常者。结果:在汉族人群中,三个功能上确定的变异体(CYP2J2 * 2,* 7和CYP2J2 * 8)和SNP rs11572182代表了罕见的多态性。但是,在整个样本中,高血压受试者和健康受试者之间的rs1155002基因型分布的差异接近显着性(P = 0.06)。有趣的是,按性别分层时,在女性中发现了与rs1155002相关的重要证据。在女性中,rs1155002的TT纯合子似乎是高血压的危险因素(p = 0.014)。此外,ANOVA分析表明TT携带者的收缩压明显更高(p = 0.016)。 rs10493270,rs1180273和rs1324491的基因型频率无统计学差异。同样,四标记单倍型频率显示病例与对照之间无显着差异。结论:我们的数据提供了有力的证据,表明CYP2J2基因是原发性高血压的易感因素,尤其是在女性中,并且影响中国汉族人群的个体收缩压。

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