Sci Rep:CYP2A6等位基因表型组广义相关研究:rs113288603与老龄抽烟者的听力损失相关

2017-04-26 AlexYang MedSci原创

为了鉴定与细胞色素P450家族2亚家族A成员6(CYP2A6)相关新的表型关系,最近,研究人员总共调查了11271名人类个体的表型组。刚开始,研究人员调查了一项广义表型相关性研究,群体为3401位尼古丁暴露的老龄研究群体,并考虑了358中表型特性。研究人员发现,CYP2A6 rs 113288603与听力损失综合征(p=5.75×10-5)具有显著的相关性。但是,在3245个非尼古丁暴露个体中,研

为了鉴定与细胞色素P450家族2亚家族A成员6(CYP2A6)相关新的表型关系,最近,研究人员总共调查了11271名人类个体的表型组。

刚开始,研究人员调查了一项广义表型相关性研究,群体为3401位尼古丁暴露的老龄研究群体,并考虑了358中表型特性。研究人员发现,CYP2A6 rs 113288603与听力损失综合征(p=5.75×10-5)具有显著的相关性。但是,在3245个非尼古丁暴露个体中,研究人员并没有发现CYP2A6 rs 113288603与听力损失综合征的相关性。该结果与发现CYP2A6参与尼古丁代谢的结论一致。另外,研究人员在一个独立的样本包含2077名尼古丁暴露老龄研究群体中也获得了一致的结果(p<0.1)。相似地,在一个非尼古丁暴露的样本重复群体中没有发现显著性。同时,基因表达资料为该相关性提供了补充证据,即rs 113288603与CYP2A6 在小脑半球的表达相关(p=7.8×10-4)。另外,抽烟与年龄相关的听力损失有着明显的相关性。抽烟与大脑结构的变化有关并且 CYP2A6 可调控这些变化。最后,研究人员指出,rs 113288603在小脑中的调控角色可能是参与小脑听觉功能区域。

原始出处:

Renato Polimanti, Kevin P. Jensen & Joel Gelernter. Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers. Sci Rep. 21 April 2017. doi:10.1038/s41598-017-01098-4

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    2017-04-28 ysjykql
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    2017-04-28 gujh
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    2017-04-28 tastas

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尽管GJB2基因序列的突变位点组成了变异的大多数数据,这些变异可以引起常染色体隐性非综合征听力损失,但是几乎没有报道过大的缺失突变导致DFNB1耳聋。目前,DFNB1听力损失的遗传检测包括了GJB2测序和DFNB1缺失分析,从而来检测两个常见的大缺失,包括del(GJB6-D13S1830) 和 del(GJB6-D13S1854)。最近,研究人员报道了他们最近鉴定的del(GJB2-D13S17