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

Hong-Sig Kim | Zendy; Hyun Min Lee | Zendy; BarkLynn Lew | Zendy; WooYoung Sim | Zendy; Y.O. Kim | Zendy; Sung Won Lee | Zendy; Sang Hyun Lee | Zendy; Ik-Hyun Cho | Zendy; JeongAh Kwon | Zendy; Hyung Jun Kim | Zendy

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

Author(s) -

Hong-Sig Kim,

Hyun Min Lee,

BarkLynn Lew,

WooYoung Sim,

Y.O. Kim,

Sung Won Lee,

Sang Hyun Lee,

Ik-Hyun Cho,

JeongAh Kwon,

Hyung Jun Kim

Publication year - 2015

Publication title -

genetics and molecular research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.356

H-Index - 48

ISSN - 1676-5680

DOI - 10.4238/2015.december.28.31

Subject(s) - alopecia areata , single nucleotide polymorphism , genetics , genotype , allele , biology , snp , major histocompatibility complex , gene , immunology

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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