TY - JOUR
KW - Arginine
KW - Base Sequence
KW - Case-Control Studies
KW - Genetic Predisposition to Disease
KW - Genetic Variation
KW - Humans
KW - Leprosy, lepromatous
KW - Membrane Glycoproteins
KW - Molecular Sequence Data
KW - Polymorphism, Genetic
KW - Promoter Regions, Genetic
KW - Receptors, Cell Surface
KW - Toll-Like Receptor 2
KW - Toll-Like Receptors
KW - Tryptophan
AU - Malhotra D
AU - Relhan V
AU - Reddy B S N
AU - Bamezai R
AB - <p>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.</p>
BT - Human genetics
C1 - http://www.ncbi.nlm.nih.gov/pubmed/15726416?dopt=Abstract
CN - MALHOTRA 2005
DA - 2005 Apr
DO - 10.1007/s00439-004-1249-9
IS - 5
J2 - Hum. Genet.
LA - eng
N2 - <p>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.</p>
PY - 2005
SP - 413
EP - 5
T2 - Human genetics
TI - TLR2 Arg677Trp polymorphism in leprosy: revisited.
VL - 116
SN - 0340-6717
ER -