Abstract

Association between TAP1 gene polymorphisms and alopecia areata in a Korean population

Author(s): H.K. Kim, H. Lee, B.L. Lew, W.Y. Sim, Y.O. Kim, S.W. Lee, S. Lee, I.K. Cho, J.T. Kwon and H.J. Kim

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.

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