TY - JOUR KW - Adult KW - Aged KW - Aged, 80 and over KW - Case-Control Studies KW - Female KW - Genetic Predisposition to Disease KW - Humans KW - Inflammatory Bowel Diseases KW - Interferon-gamma KW - Interleukin-12 Subunit p40 KW - Interleukin-18 Receptor alpha Subunit KW - leprosy KW - Male KW - Middle Aged KW - Polymorphism, Single Nucleotide AU - Liu H AU - Irwanto A AU - Tian H AU - Fu X AU - Yu Y AU - Yu G AU - Low H AU - Chu T AU - Li Y AU - Shi B AU - Chen M AU - Sun Y AU - Yuan C AU - Lu N AU - You J AU - Bao F AU - Li J AU - Liu J AU - Liu H AU - Liu D AU - Yu X AU - Zhang L AU - Yang Q AU - Wang N AU - Niu G AU - Ma S AU - Zhou Y AU - Wang C AU - Chen S AU - Zhang X AU - Liu J AU - Zhang F AB -
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.
BT - American journal of human genetics C1 - http://www.ncbi.nlm.nih.gov/pubmed/23103228?dopt=Abstract CN - LIU 2012 DA - 2012 Nov 02 DO - 10.1016/j.ajhg.2012.09.010 IS - 5 J2 - Am. J. Hum. Genet. LA - eng N2 -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.
PY - 2012 SP - 935 EP - 41 T2 - American journal of human genetics TI - Identification of IL18RAP/IL18R1 and IL12B as leprosy risk genes demonstrates shared pathogenesis between inflammation and infectious diseases. UR - http://download.cell.com/AJHG/pdf/PIIS0002929712005137.pdf?intermediate=true VL - 91 SN - 1537-6605 ER -