title: TLR2 Arg677Trp polymorphism in leprosy: revisited.
abstract: We investigated the Toll-like receptor 2 (TLR2) Arg677Trp polymorphism, associated with lepromatous leprosy in the Korean population and shown to abrogate TLR2-mediated signalling in response to mycobacterial ligands, in 286 Indian leprosy patients and 183 ethnically matched controls. The case-control comparison also involved investigation of possible variation(s) in the promoter region of the TLR2 gene. Genotyping results after direct PCR sequencing showed that the TLR2 Arg677Trp polymorphism associated with lepromatous leprosy in the Korean population is not a true polymorphism of the TLR2 gene and has resulted from the variation present in the 93% homologous duplicated region of TLR2 exon 3 present approximately 23 kb upstream.
authors.affiliation: National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi 110067, India.
authors.forename: Dheeraj
authors.initials: D
authors.lastname: Malhotra
authors.forename: Vineet
authors.initials: V
authors.lastname: Relhan
authors.forename: B S N
authors.initials: BS
authors.lastname: Reddy
authors.forename: Ramesh
authors.initials: R
authors.lastname: Bamezai
mesh_terms: D001120:Arginine; D001483:Base Sequence; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D015440:Leprosy, Lepromatous / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011956:Receptors, Cell Surface / Q000235:genetics*; D051195:Toll-Like Receptor 2; D051193:Toll-Like Receptors; D014364:Tryptophan
chemical_list: D008562:Membrane Glycoproteins; D011956:Receptors, Cell Surface; C495342:TLR2 protein, human; D051195:Toll-Like Receptor 2; D051193:Toll-Like Receptors; D014364:Tryptophan; D001120:Arginine
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