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

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9
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11

초록

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.

키워드

Alopecia areata; Association; Single nucleotide polymorphism; Transporter 1 ATP-binding cassette sub-family B; GENOME-WIDE ASSOCIATION; ANTIGEN-PROCESSING TAP; CLASS-II REGION; RHEUMATOID-ARTHRITIS; MHC; SUSCEPTIBILITY; HLA; TRANSPORTERS; PATHOGENESIS; ALLELES
제목
Association between TAP1 gene polymorphisms and alopecia areata in a Korean population
저자
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.
DOI
10.4238/2015.December.28.31
발행일
2015
유형
Article
저널명
Genetics and Molecular Research
권
14
호
4
페이지
18820 ~ 18827