nature

当前位置: Nature » 基因&基因组学 » 正文

Sci.Rep:中科院昆明所孔庆鹏课题组发表高血压遗传易感性研究文章

摘要 : 2015年10月21日,自然出版集团旗下期刊《Scientific Reports》上发表了中科院昆明动物所孔庆鹏课题组发表的关于高血压遗传易感性研究文章

 2015年10月21日,自然出版集团旗下期刊《Scientific Reports》上发表了中科院昆明动物所孔庆鹏课题组发表的关于高血压遗传易感性研究文章,该研究由中科院昆明动物研究所、苏州大学和暨南大学共同合作完成,其中昆明动物所孔庆鹏研究员、何永捍博士及苏州大学医学院徐勇教授为共同通讯作者。目前,孔庆鹏课题组正在对该位点的功能和机制进行深入研究。

高血压是心脑血管疾病的重要独立危险因素,发病隐匿,危害严重。研究表明,高血压是由环境因素(如高盐饮食)和遗传因素共同作用的结果。随着测序技术的快速发展,高血压的遗传因素研究取得了巨大的进步。近年来,通过大规模人群测序,人们在欧洲人群中发现一些新的高血压相关位点,然而在中国人群的分布和作用并不清楚。

孔庆鹏课题组硕士研究生余琴及合作者筛选了10个新的高血压相关位点,在中国江苏人群的880份高血压样本和886份正常对照样本中进行了研究。结果发现:在男性样本中,VCL基因的rs4746172位点与高血压显著相关(OR=0.70, 95%CI: 0.54-0.92, P=0.011),而与女性高血压却没有显著相关性。该模式在广东高血压及正常对照样本中得到了验证。VCL基因编码一个细胞骨架蛋白,在胚胎发育和维持心脏功能方面发挥着重要的作用。VCL基因突变可导致扩张性心肌病,增加心脏的工作负荷,从而影响血压的维持和稳定。因此,VCL基因rs4746172位点可能通过影响心脏功能进而调节血压,最终影响心血管疾病的风险,而这一过程可能跟性激素(特别是雄激素)的参与有关。

原文链接:

Sex-specific association of rs4746172 of VCLgene with hypertension in two Han populations from Southern China

原文摘要:

Hypertension is the most common and lethal risk factor for cardiovascular disease (CVD). Numerous variants have been associated with hypertension, however, most of which failed to get replication due to ethnic differences. In this study, we analyzed associations of 10 newly reported single nucleotide polymorphisms (SNPs) in Europeans with hypertension in Chinese. A total of 1766 samples consisting of 880 subjects with hypertension and 886 controls were collected and the SNPs were genotyped using multiple assays based on the SNaPshot mini-sequencing approach. Our results revealed a significant genotypic association of rs4746172 of VCL with hypertension with a lower frequency of minor allele in male subjects (OR = 0.70, 95% CI: 0.54–0.92, p = 0.011) but not in females. To validate the result, we genotyped the SNPs in another Chinese population with 546 individuals, and got a consistent association for the rs4746172 (OR = 0.56, 95% CI: 0.38-0.82, p = 2.4 × 10−3) in males. The VCL-encoding protein was involved in cardiomyopathy that associated with hypertension, therefore our results suggest the rs4746172 of VCL may be a novel target for clinical interventions to reduce CVD risk by regulating blood pressure in male Chinese.

来源: Scientific Reports 浏览次数:0

热门文章TOP

RSS订阅 - 填写您的邮件地址,订阅我们的精彩内容: - 网站地图
网站联系电话:020-87540820 备案号:粤ICP备11050685号-8 增值电信业务经营许可证:粤B2-20120479
©2011-2015 生物帮 All rights reserved.