@article{23534, keywords = {leprosy, Inflammatory Bowel Diseases, infectious disease}, author = {Liu H and Irwanto A and Tian H and Fu X and Yu Y and Yu G and Low H and Chu T and Li Y and Shi B and Chen M and Sun Y and Yuan C and Lu N and You J and Bao F and Li J and Liu J and Liu H and Liu D and Yu X and Zhang L and Yang Q and Wang N and Niu G and Ma S and Zhou Y and Wang C and Chen S and Zhang X and Liu J and Zhang F}, title = {Identification of IL18RAP/IL18R1 and IL12B as Leprosy Risk Genes Demonstrates Shared Pathogenesis between Inflammation and Infectious Diseases}, abstract = {Of eight leprosy susceptibility loci identified by genome-wide association studies, five have been implicated in Crohn disease, suggesting a common genetic fingerprint between leprosy and inflammatory bowel disease (IBD). Here, we conducted a multiple-stage genetic association study of 133 IBD susceptibility loci in multiple leprosy samples (totaling 4,971 leprosy cases and 5,503 controls) from a Chinese population and discovered two associations at rs2058660 on 2q12.1 (p = 4.57 × 10−19; odds ratio [OR] = 1.30) and rs6871626 on 5q33.3 (p = 3.95 × 10−18; OR = 0.75), implicating IL18RAP/IL18R1 and IL12B as susceptibility genes for leprosy. Our study reveals the important role of IL12/IL18-mediated transcriptional regulation of IFN-γ production in leprosy, and together with previous findings, it demonstrates the shared genetic susceptibility between infectious and inflammatory diseases.}, year = {2012}, journal = {The American Journal of Human Genetics}, volume = {91}, pages = {935 - 41}, month = {11/2012}, issn = {0002-9297}, doi = {10.1016/j.ajhg.2012.09.010}, language = {eng}, }