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ITPKB and ZNF184 are associated with Parkinson’s disease risk in East Asians
Neurobiology of Aging ( IF 3.7 ) Pub Date : 2020-02-01 , DOI: 10.1016/j.neurobiolaging.2019.01.026
Elaine Guo Yan Chew 1 , Louis C S Tan 2 , Wing-Lok Au 2 , Kumar-M Prakash 2 , Jianjun Liu 3 , Jia Nee Foo 1 , Eng-King Tan 4
Affiliation  

A recent meta-analysis of Parkinson's disease (PD) genome-wide association studies has identified 17 novel risk loci in the European population. We aim to assess if these reported novel risk loci are similarly implicated in PD risk within the East Asian population by analyzing the reported risk single nucleotide polymorphism or proxy single nucleotide polymorphism in 14,006 East Asian samples (779 patients and 13,227 controls). We found that 9 of the 17 reported novel PD risk loci showed very similar effects in Europeans and East Asians (I2 = 0 to 10.7%), of which 2 loci ITPKB and ZNF184 were significantly associated with PD in our samples. Two of the reported risk loci, ANK2/CAMK2D and CTSB, were non-polymorphic in East Asians and therefore not implicated in PD risk in the East Asian population. Given the small effect sizes of these risk loci, further validation is needed in additional Asian samples.

中文翻译:

ITPKB 和 ZNF184 与东亚人的帕金森病风险相关

最近对帕金森病 (PD) 全基因组关联研究的荟萃分析确定了欧洲人群中的 17 个新风险位点。我们旨在通过分析 14,006 个东亚样本(779 名患者和 13,227 名对照)中报告的风险单核苷酸多态性或代理单核苷酸多态性来评估这些报告的新风险位点是否与东亚人群的 PD 风险类似。我们发现 17 个报道的新型 PD 风险位点中有 9 个在欧洲人和东亚人中表现出非常相似的影响(I2 = 0 至 10.7%),其中 2 个位点 ITPKB 和 ZNF184 在我们的样本中与 PD 显着相关。两个报告的风险位点,ANK2/CAMK2D 和 CTSB,在东亚人中是非多态性的,因此与东亚人群的 PD 风险无关。鉴于这些风险位点的影响大小很小,
更新日期:2020-02-01
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