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

作者：Kim H K; Lee H; Lew B L; Sim W Y; Kim Y O; Lee S W; Lee S; Cho I K; Kwon J T; Kim H J

来源：Genetics and Molecular Research, 2015, 14(4): 18820-18827.

DOI：10.4238/2015.December.28.31

• Alopecia areata
• Association
• Single nucleotide polymorphism
• Transporter 1 ATP-binding cassette sub-family B

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.

• 出版日期2015