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

Genet Mol Res. 2015 Dec 29;14(4):18820-7. doi: 10.4238/2015.December.28.31.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 2
  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / immunology
  • Adolescent
  • Adult
  • Alleles
  • Alopecia Areata / ethnology
  • Alopecia Areata / genetics*
  • Alopecia Areata / immunology
  • Alopecia Areata / pathology
  • Asian Continental Ancestry Group
  • Case-Control Studies
  • Female
  • Gene Expression
  • Gene Frequency
  • Genetic Loci
  • Genetic Predisposition to Disease*
  • Hair Follicle / immunology
  • Hair Follicle / metabolism*
  • Hair Follicle / pathology
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic*
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • T-Lymphocytes / pathology

Substances

  • ATP Binding Cassette Transporter, Subfamily B, Member 2
  • ATP-Binding Cassette Transporters
  • TAP1 protein, human