02355nas a2200433   4500000000100000008004100001260001300042653006000055653003800115653001000153653000900163653001200172653002500184653001100209653003800220653001300258653001100271653001000282653001200292653000900304653001600313653002600329100001300355700001500368700001200383700001400395700001100409700001100420700001100431700001600442700001600458700001400474245009700488856004800585300001000633490000700643520125700650022001401907       2013                            d  c2013 Jun10aATP Binding Cassette Transporter, Subfamily B, Member 210aATP-Binding Cassette Transporters10aAdult10aAged10aAlleles10aCase-Control Studies10aFemale10aGenetic Predisposition to Disease10agenotype10aHumans10aIndia10aleprosy10aMale10aMiddle Aged10aPolymorphism, Genetic1 aShinde V1 aMarcinek P1 aRani DS1 aSunder SR1 aArun S1 aJain S1 aNath I1 aThangaraj K1 aVelavan T P1 aValluri V00aGenetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients.  uhttp://www.ncbi.nlm.nih.gov/pubmed/23395648  a803-70 v743 a<p>The heterodimeric transporter associated with antigen processing (TAP) gene loci is known to play a vital role in immune surveillance. We investigated a possible association of gene polymorphisms both in TAP1 and TAP2 in a cohort of clinically classified leprosy patients (n=222) and in ethnically matched controls (n=223). The TAP1 and TAP2 genes were genotyped for four single nucleotide polymorphisms TAP1 (rs1057141 Iso333Val and rs1135216 Asp637Gly) and TAP2 (rs2228396 Ala565Thr and rs241447 Ala665Thr) by direct sequencing and ARMS-PCR. The minor allele of TAP1 637G contributes to an increased risk to leprosy compared to controls (OR: 1.68, 95% CI 1.2-2.36, P=0.0057). An increased risk for the variant minor allele of the TAP1 637G to multibacillary (BL+LL) or paucibacillary (BT+TT) infections was also observed [multibacillary vs. controls (OR: 1.56, 95% CI 1.07-2.28, P=0.054); paucibacillary vs. controls (OR: 1.92, 95% CI 1.21-3.01, P=0.013)]. In the dominant model, the genotypes of the TAP1 rs1135216AG+GG additionally contributed to an increased risk. Overall our findings demonstrate that the TAP1 gene variant (rs1135216 Asp637Gly) influences the susceptibility to clinically classified leprosy patients in Indian population.</p>  a1879-1166