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Association between TAP1 gene polymorphisms and alopecia areata in a Korean population
- Authors
- 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.
- Issue Date
- 28-Dec-2015
- Publisher
- FUNPEC-EDITORA
- Keywords
- Alopecia areata; Association; Single nucleotide polymorphism; Transporter 1 ATP-binding cassette sub-family B
- Citation
- GENETICS AND MOLECULAR RESEARCH, v.14, no.4, pp 18820 - 18827
- Pages
- 8
- Journal Title
- GENETICS AND MOLECULAR RESEARCH
- Volume
- 14
- Number
- 4
- Start Page
- 18820
- End Page
- 18827
- ISSN
- 1676-5680
- 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.
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