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
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Research Support, Non-U.S. Gov't
MeSH terms
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ATP Binding Cassette Transporter, Subfamily B, Member 2
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ATP-Binding Cassette Transporters / genetics*
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ATP-Binding Cassette Transporters / immunology
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Adolescent
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Adult
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Alleles
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Alopecia Areata / ethnology
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Alopecia Areata / genetics*
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Alopecia Areata / immunology
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Alopecia Areata / pathology
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Asian People
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Case-Control Studies
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Female
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Gene Expression
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Gene Frequency
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Genetic Loci
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Genetic Predisposition to Disease*
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Hair Follicle / immunology
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Hair Follicle / metabolism*
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Hair Follicle / pathology
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Humans
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Male
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Middle Aged
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Polymorphism, Single Nucleotide*
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Promoter Regions, Genetic*
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T-Lymphocytes / immunology
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T-Lymphocytes / metabolism
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T-Lymphocytes / pathology
Substances
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ATP Binding Cassette Transporter, Subfamily B, Member 2
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ATP-Binding Cassette Transporters
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TAP1 protein, human