Analysis of allelic variation of the TAP2 gene in sarcoidosis

• Published in: Tissue antigens Vol. 49; no. 2; pp. 107 - 110
• Main Authors: Ishihara, M., Ohno, S., Ishida, T., Naruse, T., Kagiya, M., Mizuki, N., Maruya, E., Saji, H., Inoko, H.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.02.1997
• Subjects: Alleles; ATP Binding Cassette Transporter, Subfamily B, Member 3; ATP-Binding Cassette Transporters - genetics; Female; Genetic Predisposition to Disease; Genetic Variation; HLA-D Antigens - genetics; Humans; Major Histocompatibility Complex; Male; sarcoidosis; Sarcoidosis - genetics; TAP2 gene
• ISSN: 0001-2815; 1399-0039
• DOI: 10.1111/j.1399-0039.1997.tb02722.x

Sarcoidosis is a systemic granulomatous disease and the DRB1 gene of the DR subregion has been implicated for determining the genetic susceptibility to the disease. We evaluated the allelic variation of the TAP2 gene using the PCR‐RFLP method as well as the mismatched PCR‐RFLP method in 82 Japanese patients with sarcoidosis and 92 healthy controls. A new allele, TAP2*0103 and a new polymorphic variation at codon 577 in addition to TAP2*0101, TAP2*0102 and TAP2*0201 have been recognized in the Japanese subjects. No significant differences were observed in the frequencies of any TAP2 alleles or dimorphism at codon 577 between the patients and healthy controls. Polymorphic variation of the TAP2 gene does not confer the susceptibility to sarcoidosis.