@article{23378, keywords = {Adult, Aged, Aged, 80 and over, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Inflammatory Bowel Diseases, Interferon-gamma, Interleukin-12 Subunit p40, Interleukin-18 Receptor alpha Subunit, leprosy, Male, Middle Aged, Polymorphism, Single Nucleotide}, 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 = {American journal of human genetics}, volume = {91}, pages = {935-41}, month = {2012 Nov 02}, issn = {1537-6605}, url = {http://download.cell.com/AJHG/pdf/PIIS0002929712005137.pdf?intermediate=true}, doi = {10.1016/j.ajhg.2012.09.010}, language = {eng}, }