Genetics and molecular research : GMR · 2015
Association between TAP1 gene polymorphisms and alopecia areata in a Korean population.
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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
Аннотация
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.
Предметные рубрики MeSH
ATP Binding Cassette Transporter, Subfamily B, Member 2ATP-Binding Cassette TransportersAdolescentAdultAllelesAlopecia AreataAsian PeopleCase-Control StudiesFemaleGene ExpressionGene FrequencyGenetic LociGenetic Predisposition to DiseaseHair FollicleHumansMaleMiddle AgedPolymorphism, Single NucleotidePromoter Regions, GeneticT-Lymphocytes