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A. Matsuda, N. Ebihara, K. Naoki, K. Hirano, M. Ueta, K.–I. Namba, N. Mizuki, S. Ohno, T. Shirakawa, S. Kinoshita; Functional SNPs in the Promoter of the IFNGR1 Gene are Associated with Ocular Complications of Atopic Dermatitis . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4974.
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© ARVO (1962-2015); The Authors (2016-present)
To evaluate genetic factors for the pathogenesis of ocular complications of atopic dermatitis (AD).
We have carried out a case–control study with 72 atopic dermatitis patients with ocular complications (ocular AD) and 283 healthy controls. This genetic association study was completed using Japanese AD subjects.We tested SNPs in the genes related to innate immunity, including interferon gamma receptor (IFNGR) 1, IFNGR2, and toll– like receptors (TLR)–2, TLR–4, and TLR–9.
We found a strong genetic association between –56T/C SNP (Χ2 test, raw P value =0.00037, odds ratio 2.65) in the promoter region of the IFNGR1 gene and ocular AD. The association became stronger (P=0.000019, odds ratio 4.11) when the cases were limited to atopic cataract (n=40). RT–PCR experiment showed that IFNGR1 mRNA is expressed in lens epithelial cells. The result of reporter gene assay showed that the IFNGR1 promoter region including the SNP was functional in lens epithelial cells.
We found a genetic association between IFNGR1 SNP and atopic cataracts. Our finding will contribute to the evaluation of the genetic risk factors for atopic cataract.
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