Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy

Hong Liu, Astrid Irwanto, Xi'an Fu, Gongqi Yu, Yongxiang Yu, Yonghu Sun, Chuan Wang, Zhenzhen Wang, Yukinori Okada, Huiqi Low, Yi Li, Herty Liany, Mingfei Chen, Fangfang Bao, Jinghui Li, Jiabao You, Qilin Zhang, Jian Liu, Tongsheng Chu, Anand Kumar AndiappanNa Wang, Guiye Niu, Dianchang Liu, Xiulu Yu, Lin Zhang, Hongqing Tian, Guizhi Zhou, Olaf Rotzschke, Shumin Chen, Xuejun Zhang, Jianjun Liu, Furen Zhang

Research output: Contribution to journalArticlepeer-review

96 Scopus citations


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.

Original languageEnglish
Pages (from-to)267-271
Number of pages5
JournalNature Genetics
Issue number3
StatePublished - 25 Feb 2015
Externally publishedYes


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