02283nas a2200397   4500000000100000008004100001260001300042653001000055653002800065653002100093653001100114653001900125653003800144653001100182653001200193653000900205653002700214653001000241653002600251653003000277653002600307653003200333100001500365700001600380700001800396700001300414700001300427700001600440700001300456700001200469245007600481300001000557490000700567520129700574022001401871       2010                            d  c2010 Oct10aAdult10aDNA Mutational Analysis10aErythema Nodosum10aFemale10aGene Frequency10aGenetic Predisposition to Disease10aHumans10aleprosy10aMale10aMannose-Binding Lectin10aNepal10aPolymorphism, Genetic10aPromoter Regions, Genetic10aReceptors, Calcitriol10aTumor Necrosis Factor-alpha1 aSapkota BR1 aMacdonald M1 aBerrington WR1 aMisch AE1 aRanjit C1 aSiddiqui RM1 aKaplan G1 aHawn TR00aAssociation of TNF, MBL, and VDR polymorphisms with leprosy phenotypes.  a992-80 v713 a<p>Although genetic variants in tumor necrosis factor (TNF), mannose binding lectin (MBL), and the vitamin D receptor (VDR) have been associated with leprosy clinical outcomes, these findings have not been extensively validated. We used a case-control study design with 933 patients in Nepal, which included 240 patients with type I reversal reaction (RR), and 124 patients with erythema nodosum leprosum (ENL) reactions. We compared genotype frequencies in 933 cases and 101 controls of seven polymorphisms, including a promoter region variant in TNF (G -308A), three polymorphisms in MBL (C154T, G161A and G170A), and three variants in VDR (FokI, BsmI, and TaqI). We observed an association between TNF -308A and protection from leprosy with an odds ratio of 0.52 (95% confidence interval = 0.29-0.95, p = 0.016). MBL polymorphism G161A was associated with protection from lepromatous leprosy (odds ratio = 0.33, 95% confidence interval = 0.12-0.85, p = 0.010). VDR polymorphisms were not associated with leprosy phenotypes. These results confirm previous findings of an association of TNF -308A with protection from leprosy and MBL polymorphisms with protection from lepromatous leprosy. The statistical significance was modest and will require further study for conclusive validation.</p>  a1879-1166