02620nas a2200421   4500000000100000008004100001260005100042653002500093653001900118653001400137653003800151653002200189653001500211653003100226653001100257653001000268653001200278653002700290653002000317653002500337653003600362653006800398100001500466700001000481700001300491700001800504700001800522700001500540700001500555700001100570700002100581700001400602245015400616300001200770490000800782520139400790022001402184       2011                            d  c2011 Oct 15bOxford University Pressa Oxford 10aCase-Control Studies10aCohort Studies10aCytokines10aGenetic Predisposition to Disease10aGenetic Variation10aHaplotypes10aHost-Pathogen Interactions10aHumans10aIndia10aleprosy10aLinkage Disequilibrium10aLogistic Models10aMycobacterium leprae10aPolymorphism, Single Nucleotide10aSpectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization1 aAggarwal S1 aAli S1 aChopra R1 aSrivastava AK1 aKalaiarasan P1 aMalhotra D1 aGochhait S1 aGarg V1 aBhattacharya S N1 aBamezai R00aGenetic variations and interactions in anti-inflammatory cytokine pathway genes in the outcome of leprosy: a study conducted on a MassARRAY platform.  a1264-730 v2043 a<p><b>BACKGROUND: </b>Mycobacterium leprae is the etiologic pathogen that causes leprosy. The outcome of disease is dependent on the host genetic background.</p><p><b>METHODS: </b>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.</p><p><b>RESULTS: </b>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.</p><p><b>CONCLUSIONS: </b>This study provides an interesting insight on the cumulative polygenic host component that regulates leprosy pathogenesis.</p>  a1537-6613