Association of genetic variants within HLA-DR region with Parkinson's disease in Taiwan
Association of genetic variants within HLA-DR region with Parkinson's disease in Taiwan
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DOI：
10.1016/j.neurobiolaging.2019.11.002
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发表时间：
2020-03-01
影响因子：
4.2
通讯作者：
Chen, Chiung-Mei
中科院分区：
文献类型：
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作者：
Chang, Kuo-Hsuan;Wu, Yih-Ru;Chen, Chiung-Mei
以前的高加索人全基因组关联研究表明，人类白细胞抗原(HL A)-DR区域的遗传位点可能与帕金森病(PD)有关。然而，这些基因与疾病的关联在亚洲人群中的报道有限。在此，我们通过对486名台湾帕金森病患者和473名年龄匹配的对照受试者进行基因分型，研究了高加索人中5个与帕金森病相关的前5个基因变异，包括rs4248166、rs9268515、rs2395163、rs75855844和rs660895。虽然rs2395163C等位基因与帕金森病患者的关联无统计学意义(优势比[OR]=0.74，95%CI：0.55~0.99，P=0.045)。男性帕金森病患者rs2395163C等位基因频率(8.65%)显著低于男性对照组(14.02%；OR=0.58，95%CI：0.39~0.88，P=0.009)。帕金森病患者和其他被测试的基因变异之间的遗传关联为负。虽然观察到强连锁不平衡(rs4248166-rs9626515-s2395163和rs9626515-rs660895)，但单倍型分析没有发现任何显著的风险相关等位基因组合。这些结果提示台湾人和高加索人帕金森病患者在人类白细胞抗原-DR区有不同的遗传背景。(C)2019 Elsevier Inc.保留所有权利。
Previous genome-wide association studies in Caucasians suggest genetic loci of human leukocyte antigen (HLA)-DR region may be associated with Parkinson's disease (PD). However, these gene-disease associations were limitedly reported in Asian populations. Herein, we investigated the effects of 5 top PD-associated genetic variants within HLA-DR region in Caucasians, including rs4248166, rs9268515, rs2395163, rs75855844, and rs660895, by genotyping 486 Taiwanese patients with PD and 473 age-matched control subjects. Although the association between rs2395163 C allele and patients with PD demonstrated marginal significance (odds ratio [OR] = 0.74, 95% CI: 0.55-0.99, p = 0.045). The frequency of rs2395163 C allele (8.65%) in male patients with PD was significantly lower than in male control subjects (14.02%; OR = 0.58, 95% CI: 0.39-0.88, p = 0.009). The genetic associations between patients with PD and other tested genetic variants were negative. Although strong linkage disequilibrium (rs4248166-rs9626515-s2395163 and rs9626515-rs660895) were observed, the haplotype analysis did not find any significant risk-associated allelic combinations. These results suggest a distinct genetic background within HLA-DR region between Taiwanese and Caucasian patients with PD. (C) 2019 Elsevier Inc. All rights reserved.