标题:Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy
作者:Liu, Hong; Irwanto, Astrid; Fu, Xi'an; Yu, Gongqi; Yu, Yongxiang; Sun, Yonghu; Wang, Chuan; Wang, Zhenzhen; Okada, Yukinori; Low, Hu 更多
作者机构:[Liu, Hong; Tian, Hongqing] Shandong Univ, Shandong Prov Hosp Skin Dis, Jinan 250100, Peoples R China.; [Liu, Hong; Fu, Xi'an; Yu, Gongqi; Yu, Yongx 更多
通讯作者:Zhang, FR
通讯作者地址:[Zhang, FR]Shandong Acad Med Sci, Shandong Prov Inst Dermatol & Venereol, Jinan, Peoples R China.
来源:NATURE GENETICS
出版年:2015
卷:47
期:3
页码:267-+
DOI:10.1038/ng.3212
摘要:Genome-wide association studies (GWAS) have led to the discovery of several susceptibility loci for leprosy with robust evidence, providing biological insight into the role of host genetic factors in mycobacterial infection. However, the identified loci only partially explain disease heritability, and additional genetic risk factors remain to be discovered. We performed a 3-stage GWAS of leprosy in the Chinese population using 8,313 cases and 16,017 controls. Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, CCDC88B and CIITA-SOCS1 as new susceptibility genes for leprosy. A systematic evaluation of pleiotropic effects demonstrated a high tendency for leprosy susceptibility loci to show association with autoimmunity and inflammatory diseases. Further analysis suggests that molecular sensing of infection might have a similar pathogenic role across these diseases, whereas immune responses have discordant roles in infectious and inflammatory diseases.
收录类别:SCOPUS;SCIE
WOS核心被引频次:31
Scopus被引频次:37
资源类型:期刊论文
原文链接:https://www.scopus.com/inward/record.uri?eid=2-s2.0-84924041476&doi=10.1038%2fng.3212&partnerID=40&md5=4d88d99c925a19de15fd2163ca5545f2
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