JAMA Neurol:亚洲人群帕金森病相关遗传风险因素研究

2020-04-29 MedSci原创 MedSci原创

本次在亚洲人群的PD相关基因风险全基因组关联研究发现了2个新的基因位点,以及9个先前发现的欧洲人群位点,这一研究证实了亚洲和欧洲个体在PD遗传危险因素方面的异同,对亚洲人群风险分层和精确医学具有潜在

在欧洲人群中,大规模全基因组关联研究已经确定了90种与帕金森病(PD)相关的风险变异,近日研究人员就亚洲人群中PD相关风险基因进行了考察,并比较亚洲和欧洲人群的遗传风险差异。
 
研究人员从新加坡、马来西亚、香港、台湾、中国大陆和韩国收集PD病例和对照参与者进行全基因组关联数据收集,主要终点为常见变异的基因型,与疾病状态的关联,以及多基因风险评分。
 
在31575份样本中,包含6724例PD患者(平均年龄,64.3岁;发病年龄,58.8岁;3472[53.2%]男性)和24851例对照组(年龄59.4岁;11030例[45.0%]男性)。鉴定了11个全基因组的显著位点,其中2个位点是新的(SV2C和WBSCR17),9个在先前的欧洲队列中已发现。在欧洲血统和日本样本中进行验证后,证实SV2C 的强有力的相关性,但WBSCR17显示了潜在的遗传异质性。包括上述11个位点变异的多基因风险评分模型,与仅含有78个欧洲位点的模型相比,曲线下面积有显著改善(63.1 %vs 60.2%)。
 
本次在亚洲人群的PD相关基因风险全基因组关联研究发现了2个新的基因位点,以及9个先前发现的欧洲人群位点,这一研究证实了亚洲和欧洲个体在PD遗传危险因素方面的异同,对亚洲人群风险分层和精确医学具有潜在的学术和临床意义。
 
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    2020-06-14 yinhl1978
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    2020-04-29 旺医

    顶刊就是顶刊,谢谢梅斯带来这么高水平的研究报道,我们科里同事经常看梅斯,分享梅斯上的信息

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