rs2253120

This case-control study (527 leprosy patients, 583 controls) in Han Chinese from Southwest China failed to replicate two previously reported SNP-leprosy associations (rs1926736 in MRC1 and rs2430561 in IFNG), likely due to regional allele frequency differences. However, two novel associations were identified in the MRC1 gene: rs692527 (OR=0.598, P=0.022) and rs34856358 (OR=1.688, P=0.022) associated with paucibacillary leprosy, and the dinucleotide CA repeat rs3138557 in IFNG was significantly associated with multibacillary leprosy and overall leprosy (haplotype A-CA11 OR=2.033, P=0.002).

This case-control association study examined 7 SNPs in the MRC1 gene (mannose receptor) in 870 Japanese and 176 African-American subjects. Five SNPs (rs2477637, rs2253120, rs2477664, rs692527, rs1926736) showed suggestive association with asthma in the Japanese population (OR range 0.76-1.34, p<0.05), while rs692527 and rs691005 were significantly associated in African-Americans (OR 2.17 and 1.81 respectively, p<0.01). Haplotypes containing rs692527 and rs1926736 were significantly associated with asthma in both populations, suggesting MRC1 variants contribute to asthma susceptibility across ethnicities.