TY - JOUR KW - ATP Binding Cassette Transporter, Subfamily B, Member 2 KW - ATP-Binding Cassette Transporters KW - Adult KW - Aged KW - Alleles KW - Case-Control Studies KW - Female KW - Genetic Predisposition to Disease KW - genotype KW - Humans KW - India KW - leprosy KW - Male KW - Middle Aged KW - Polymorphism, Genetic AU - Shinde V AU - Marcinek P AU - Rani DS AU - Sunder SR AU - Arun S AU - Jain S AU - Nath I AU - Thangaraj K AU - Velavan T P AU - Valluri V AB -

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.

BT - Human immunology C1 - http://www.ncbi.nlm.nih.gov/pubmed/23395648?dopt=Abstract DA - 2013 Jun DO - 10.1016/j.humimm.2013.01.001 IS - 6 J2 - Hum. Immunol. LA - eng N2 -

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.

PY - 2013 SP - 803 EP - 7 T2 - Human immunology TI - Genetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients. UR - http://www.ncbi.nlm.nih.gov/pubmed/23395648 VL - 74 SN - 1879-1166 ER -