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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: BACKGROUND, OBJECTIVE, METHODS, RESULTS. Meshes: Adolescent, Adult, Case-Control Studies, Child, China, Chromosome Mapping, Exons, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Leprosy, Multibacillary, Leprosy, Paucibacillary, Male, Monosaccharide Transport Proteins, Mutation, Missense, Polymorphism, Single Nucleotide, Quantitative Trait Loci, RNA, Messenger, Receptors, Interleukin, Risk Factors, Young Adult.
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Does fine mapping of the GWAS loci identify SLC35D1 and IL23R as potential risk genes for leprosy? Context: Previous genome-wide association study (GWAS) identified two new leprosy associated loci (1p31.3 [rs3762318] and 6q24.3 [rs2275606]). However, there were insufficient validations in independent populations. To validate the association and to map the potentially causal variants/genes underlying the association between the confirmed GWAS hit and leprosy. We genotyped 10 variants in the regions encompassing the two loci in 1110 Han Chinese subjects with and without leprosy, followed by expression quantitative trait loci (eQTL), mRNA expression profiling, and network analysis. We further sequenced the exon region of four genes that were located in the confirmed GWAS hit region in 80 leprosy patients and 99 individuals without leprosy. We validated the positive association of rs3762318 with multibacillary leprosy (P=7.5×10
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Our results supported the positive association between the GWAS reported rs3762318 and leprosy, and SLC35D1 and IL23R might be the causal genes. Final Decision: yes