| Literature DB >> 26782532 |
H K Kim1, H Lee1, B L Lew2, W Y Sim2, Y O Kim3, S W Lee3, S Lee4, I K Cho5, J T Kwon1, H J Kim1,6.
Abstract
The transporter 1 ATP-binding cassette sub-family B (MDR/TAP) gene (TAP1) is located in the major histocompatibility complex class II region, and forms a heterodimer that plays a key role in endogenous antigen presentation pathways. Investigation of polymorphisms identified in these loci has revealed an association with several autoimmune disorders. Alopecia areata (AA) is a common autoimmune disease resulting from T cell-induced damage to hair follicles. The present study documents for the first time a comparison between the allelic and genotypic frequencies of TAP1 single nucleotide polymorphisms (SNPs) in patients with AA and those of a control group, using a direct sequencing method. Our results suggest an association between a promoter SNP (rs2071480) and susceptibility to this disease.Entities:
Mesh：
Substances：
Year: 2015 PMID： 26782532 DOI： 10.4238/2015.December.28.31
Source DB: PubMed Journal: Genet Mol Res ISSN： 1676-5680