01512nas a2200205 4500000000100000008004100001260001500042653001700057653001000074653001200084653001100096100002300107700001100130700001600141245012200157300000800279050002400287520098100311022001401292 2014 d c2014 Feb 510aPolymorphism10aNOS2A10aleprosy10aBrazil1 aMessias-Reason LJT1 aTong H1 aVelavan T P00aAnalysis of polymorphic sites in the promoter of the nitric oxide synthase 2 gene in Brazilian patients with leprosy. a1-5 aMESSIAS-REASON 20143 aLeprosy is one of the most neglected infectious tropical diseases of the skin and the nerves caused by the intracellular pathogen Mycobacterium leprae. The inducible NOS isoform encoded by NOS2A plays a vital role in host defence against bacterial infections. The functional promoter polymorphisms in NOS2A are associated with various autoimmune and infectious diseases. We investigated the association of NOS2A variants with progression of leprosy in a Brazilian cohort including 221 clinically classified patients and 103 unrelated healthy controls. We observed a novel variant ss528838018A/G in the promoter region at position -6558. The other functional variants were observed with low frequency of minor allele (<0.005). NOS2A promoter variant (-954G/C) was not observed in Brazilian populations, and the new observed promoter variant (ss528838018A/G) as well as other promoter variants were not associated with any clinical forms of leprosy in the Brazilian populations. a1744-313X