@article{27157,
  keywords = {Receptors, Interleukin, Receptor-Interacting Protein Serine-Threonine Kinase 2, rab GTP-Binding Proteins, Principal Component Analysis, Polymorphism, Single Nucleotide, Nod2 Signaling Adaptor Protein, Middle Aged, Male, Linkage Disequilibrium, leprosy, Humans, Haplotypes, Genome-Wide Association Study, Genetic Predisposition to Disease, Female, Epistasis, Genetic, Chromosomes, Human, Pair 11, Case-Control Studies, Aged},
  author = {Zhang F and Liu H and Chen S and Low H and Sun L and Cui Y and Chu T and Li Y and Fu X and Yu Y and Yu G and Shi B and Tian H and Liu D and Yu X and Li J and Lu N and Bao F and Yuan C and Liu J and Liu H and Zhang L and Sun Y and Chen M and Yang Q and Yang H and Yang R and Zhang L and Wang Q and Liu H and Zuo F and Zhang H and Khor CC and Hibberd ML and Yang S and Liu J and Zhang X},
  title = {Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.},
  abstract = {<p>We performed a genome-wide association study with 706 individuals with leprosy and 5,581 control individuals and replicated the top 24 SNPs in three independent replication samples, including a total of 3,301 individuals with leprosy and 5,299 control individuals from China. Two loci not previously associated with the disease were identified with genome-wide significance: rs2275606 (combined P = 3.94 × 10(-14), OR = 1.30) on 6q24.3 and rs3762318 (combined P = 3.27 × 10(-11), OR = 0.69) on 1p31.3. These associations implicate IL23R and RAB32 as new susceptibility genes for leprosy. Furthermore, we identified evidence of interaction between the NOD2 and RIPK2 loci, which is consistent with the biological association of the proteins encoded by these genes (NOD2-RIPK2 complex) in activating the NF-κB pathway as a part of the host defense response to infection. Our findings have expanded the biological functions of IL23R by uncovering its involvement in infectious disease susceptibility and suggest a potential involvement of autophagocytosis in leprosy pathogenesis. The IL23R association supports previous observations of the marked overlap of susceptibility genes for leprosy and Crohn's disease, implying common pathogenesis mechanisms.</p>
},
  year = {2011},
  journal = {Nature genetics},
  volume = {43},
  pages = {1247-51},
  issn = {1546-1718},
  doi = {10.1038/ng.973},
  language = {eng},
}