title: Association between TAP1 gene polymorphisms and alopecia areata in a Korean population.
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.
authors.affiliation: Department of Clinical Pharmacology, College of Medicine, Soonchunhyang University, Cheonan, Republic of Korea.
authors.forename: H K
authors.initials: HK
authors.lastname: Kim
authors.affiliation: Department of Clinical Pharmacology, College of Medicine, Soonchunhyang University, Cheonan, Republic of Korea.
authors.forename: H
authors.initials: H
authors.lastname: Lee
authors.affiliation: Department of Dermatology, College of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: B L
authors.initials: BL
authors.lastname: Lew
authors.affiliation: Department of Dermatology, College of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: W Y
authors.initials: WY
authors.lastname: Sim
authors.affiliation: Development of Ginseng and Medical Plants Research Institute, Rural Administration, Eumseong, Republic of Korea.
authors.forename: Y O
authors.initials: YO
authors.lastname: Kim
authors.affiliation: Development of Ginseng and Medical Plants Research Institute, Rural Administration, Eumseong, Republic of Korea.
authors.forename: S W
authors.initials: SW
authors.lastname: Lee
authors.affiliation: Department of Integrative Plant Science, Chung-Ang University, Anseong, Republic of Korea.
authors.forename: S
authors.initials: S
authors.lastname: Lee
authors.affiliation: Department of Convergence Medical Science, Brain Korea 21 Plus Program, Institute of Korean Medicine, College of Oriental Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: I K
authors.initials: IK
authors.lastname: Cho
authors.affiliation: Department of Clinical Pharmacology, College of Medicine, Soonchunhyang University, Cheonan, Republic of Korea.
authors.forename: J T
authors.initials: JT
authors.lastname: Kwon
authors.affiliation: Department of Clinical Pharmacology, College of Medicine, Soonchunhyang University, Cheonan, Republic of Korea.|Soonchunhyang Medical Research Institute, College of Medicine, Soonchunhyang University, Cheonan, Republic of Korea.
authors.forename: H J
authors.initials: HJ
authors.lastname: Kim
mesh_terms: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000276:immunology; D000293:Adolescent; D000328:Adult; D000483:Alleles; D000506:Alopecia Areata / Q000208:ethnology / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D018859:Hair Follicle / Q000276:immunology / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism / Q000473:pathology
chemical_list: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters; C073119:TAP1 protein, human