@article{23869, keywords = {ATP Binding Cassette Transporter, Subfamily B, Member 2, ATP-Binding Cassette Transporters, Adult, Aged, Alleles, Case-Control Studies, Female, Genetic Predisposition to Disease, genotype, Humans, India, leprosy, Male, Middle Aged, Polymorphism, Genetic}, author = {Shinde V and Marcinek P and Rani DS and Sunder SR and Arun S and Jain S and Nath I and Thangaraj K and Velavan T P and Valluri V}, title = {Genetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients.}, abstract = {

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.

}, year = {2013}, journal = {Human immunology}, volume = {74}, pages = {803-7}, month = {2013 Jun}, issn = {1879-1166}, url = {http://www.ncbi.nlm.nih.gov/pubmed/23395648}, doi = {10.1016/j.humimm.2013.01.001}, language = {eng}, }