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Association of CTLA‐4 gene polymorphism with oral submucous fibrosis in Taiwan
Author(s) -
Shin YiNing,
Liu ChungJi,
Chang KuoWei,
Lee YannJinn,
Liu HsinFu
Publication year - 2004
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1111/j.0904-2512.2004.00081.x
Subject(s) - allele , genotype , oral submucous fibrosis , locus (genetics) , immunology , immune system , allele frequency , biology , medicine , genetics , gastroenterology , gene
Background: Oral submucous fibrosis (OSF) is an insidious, pre‐cancerous, chronic disease that may affect the entire oral cavity and sometimes extend to the pharynx. It has been reported to be associated with immune function. Cytotoxic T‐lymphocyte‐associated antigen 4 (CTLA‐4; CD (cluster of differentiation) 152) is a negative regulator of T‐lymphocyte activation. Particular genotypes of the locus encoding the CTLA‐4 glycoprotein have been associated with susceptibility to various autoimmune diseases. This study was designed to investigate the role of CTLA‐4 polymorphism in susceptibility to OSF. Methods: We genotyped 62 patients with OSF and 147 healthy controls for allelic determinants at the exon 1 +49 polymorphism site by restriction fragment length polymorphism. Genotype and phenotype frequencies were evaluated with Chi‐squared test. Results: The G allele at position +49 of exon 1 was significantly associated with OSF. The frequency of A/A homozygotes was higher in controls than in patients (17.0% vs. 3.2%; χ 2 = 7.65, P = 0.02); the G phenotype was more frequent in patients than in controls (96.8% vs. 83.0%; χ 2 = 9.31, P = 0.002). Compared with controls, the G allele genotype and phenotype frequencies were increased in patients with OSF. Conclusion: This is the first report that the CTLA‐4 +49 G allele confers an increased risk of OSF in Taiwan.