Assessment of 14 candidate gene polymorphisms as a risk factor for oral lichen planus in Japanese population

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Introduction : Oral lichen planus (OLP) is a refractory oral mucosal disease that is frequently encountered in the oral surgery clinic. Although the etiology is uncertain, defective cell-mediated immunity has been implicated in the pathogenesis of the OLP. In recent years, a number of immunohistochemical and serum-immunological studies have been performed for establishment of the disease etiology. Recently, Carrozzo et al. investigated genetic polymorphisms of 13 cytokine genes in the northern Italian population, indicating that tumor necrosis factor-α (TNF-α) and interferon-γ (INF-γ) were associated with disorder sensitivity of OLP. However, there has been no other genetic work, showing little information on the possible genetic association with OLP. In the present study, we analyzed the single nucleotide polymorphisms (SNPs) of 14 immune-related genes in Japanese patients with OLP.Materials and Methods : The study subjects consisted of 32 Japanese patients with OLP and 99 race-matche … More d unrelated healthy subjects referred to the Oral and Maxillofacial Surgery Clinic, Niigata University Medical and Dental Hospital between June 2002 and December 2005. After informed consent was obtained, we extracted genomic DNA from peripheral blood by the phenol/chloroform method, and determined genotypes for 14 immune-related genes, five for the immunoglobulin receptor genes, eight for cytokine genes, and one for a protease gene, with a Nano-Invader Assay. Significance of difference in the genotype frequency, allele frequency, and carriage rate was assessed by the chi-square test.Results : In TNF receptor 2 (TNFR2)+587, the G allele frequency and carriage rate were significantly higher in the patients than in the controls (p=0.0487, and p=0.0268, respectively), with an odds ratio of 2.7173 (95% confidence interval (CI) : 1.0995-6.7151). The immunoglobulin G Fc receptor (FcγR) IIIb gene was slightly associated with the frequency of the FcγRIIIb NA2 allele (p=0.1001), but failed to reach a statistical significance. There was no association for the other 12 genes.Discussion : It has been shown that the TNFR2 (+587) genetic variants regulate tumor necrosis factor-alpha-induced apoptosis, showing an asoociation with systemic lupus erythematosus, rheumatoid arthritis and severe chronic periodontitis. These findings suggested that TNFR2 (+587) genetic polymorphism would be a marker associated with susceptibility to OLP. In addition, FcγRIIIb NA2 allele frequency seemed to be increased in the OLP patients. Since FcγRIIIb NA2 exhibited a decreased neutrophil function, it would be interesting to study TNFR2 (+587) and FcγIIIb genotypes in combination in a larger group of OLP patients. Less