Background. Mycobacterium leprae is the etiologic pathogen that causes leprosy. The outcome of disease is dependent on the host genetic background. Methods. We investigated the association of 51 single-nucelotide polymorphisms (SNPs) in anti-inflammatory cytokines (IL-10, TGFB1, IL-6, IL-4, and IL-13) and receptors (IL-10RA, IL-10RB, TGFBR1, TGFBR2, IL-6R, IL-4R, IL-5RA, IL-5RB, and IL-13RA1) with susceptibility to leprosy in a case-control study from New Delhi in northern India. This was followed by replication testing of associated SNPs in a geographically distinct and unrelated population from Orissa in eastern India. The functional potential of SNPs was established with in vitro reporter assays. Results. Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and rs1554286 of IL-10; rs3171425 and rs7281762 of IL-10RB; rs2228048 and rs744751 of TGFBR2; and rs1800797 of IL-6) with leprosy. This association was replicated for 4 SNPs (rs1554286 of IL-10, rs7281762 of IL-10RB, rs2228048 of TGFBR2, and rs1800797 of IL-6). The interaction study revealed a significantly greater association with leprosy risk than was obtained for any SNP individually. Conclusions. This study provides an interesting insight on the cumulative polygenic host component that regulates leprosy pathogenesis. © The Author 2011.
CITATION STYLE
Aggarwal, S., Ali, S., Chopra, R., Srivastava, A., Kalaiarasan, P., Malhotra, D., … Bamezai, R. N. K. (2011). Genetic variations and interactions in anti-inflammatory cytokine pathway genes in the outcome of leprosy: A study conducted on a MassARRAY platform. Journal of Infectious Diseases, 204(8), 1264–1273. https://doi.org/10.1093/infdis/jir516
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