Association analysis of the HLA - C gene in Japanese alopecia areata
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Association analysis of the HLA-C gene in Japanese alopecia areata Yuko Haida & Shigaku Ikeda & Atsushi Takagi & Etsuko Komiyama & Tomotaka Mabuchi & Akira Ozawa & Jerzy K. Kulski & Hidetoshi Inoko & Akira Oka
Received: 25 March 2013 / Accepted: 3 April 2013 / Published online: 16 April 2013 # Springer-Verlag Berlin Heidelberg 2013
Abstract Alopecia areata (AA) is an organ-specific and cell-mediated autoimmune disease involving hair loss, but its pathogenesis remains poorly understood. Many autoimmune diseases are genetically associated with alleles of the human leukocyte antigen (HLA) genes within the major histocompatibility complex. Associations between AA and HLA genes were previously observed in some different ethnic groups. However, the results were inconsistent, and a primary susceptibility HLA gene and/or region has not yet Y. Haida : H. Inoko Department of Molecular Life Science, Division of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan S. Ikeda Department of Dermatology and Allergology and Atopy (Allergy) Research, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan A. Takagi : E. Komiyama Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan T. Mabuchi : A. Ozawa Department of Dermatology, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan J. K. Kulski Centre for Forensic Science, The University of Western Australia, Nedlands 6009 Western Australia, Australia A. Oka (*) The Institute of Medical Science, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan e-mail: [email protected]
been assigned for AA. The aim of this study was to evaluate whether an allele of the HLA-C locus, HLA-C*07:04, which was strongly associated with AA in Chinese Hans, could be replicated in the Japanese population. The HLA-C locus was genotyped by the SSO method using 156 AA patients and 560 healthy controls. As a consequence, among the 17 alleles detected, only two alleles, C*04:01 (OR=2.25, CI 95 %=1.35–3.75, P=1.84E-03) and C*15:02 (OR=2.52, CI 95 %=1.37–4.64, P=2.90E-03), were significantly associated with AA after Bonferroni correction. Further, the stratification analysis suggested that C*04:01, C*07:02, and C*15:02 represented different AA genetic risk factors in each sub-phenotype. Keywords Alopecia areata . Association . MHC . HLA . HLA-C Alopecia areata (AA) [MIM 104000] is an organ-specific, cell-mediated autoimmune disease resulting in non-scarring, unifocal, patchy, hair loss from the body and especially the scalp (Ito et al. 2010; Wasserman et al. 2007). AA is divided into three subtypes, depending on the degree of hair loss. The mildest form involves patchy hair loss from the scalp or from other areas of the body and it can progress either to alopecia totalis (AT) with a total loss of scalp hair or to
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