May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Functional SNPs in the Promoter of the IFNGR1 Gene are Associated with Ocular Complications of Atopic Dermatitis
Author Affiliations & Notes
  • A. Matsuda
    Department of Ophthalmology, Kyoto Prefectural Univ of Med, Kyoto, Japan
    SNP research center, RIKEN, Yokohama, Japan
  • N. Ebihara
    Department of Ophthalmology, Juntendo Univ of Med, Tokyo, Japan
  • K. Naoki
    Department of Ophthalmology, Yamaguchi Univ of Med, Ube, Japan
  • K. Hirano
    Department of Ophthalmology, Fuijita Health Univ of Med, Nagoya, Japan
  • M. Ueta
    Department of Ophthalmology, Kyoto Prefectural Univ of Med, Kyoto, Japan
  • K.–I. Namba
    Department of Ophthalmology, Hokkaido Univ of Med, Sapporo, Japan
  • N. Mizuki
    Department of Ophthalmology, Yokohama City Univ of Med, Yokohama, Japan
  • S. Ohno
    Department of Ophthalmology, Hokkaido Univ of Med, Sapporo, Japan
  • T. Shirakawa
    SNP research center, RIKEN, Yokohama, Japan
    Department of Health Promotion, Kyoto Univ of Med, Kyoto, Japan
  • S. Kinoshita
    Department of Ophthalmology, Kyoto Prefectural Univ of Med, Kyoto, Japan
  • Footnotes
    Commercial Relationships  A. Matsuda, None; N. Ebihara, None; K. Naoki, None; K. Hirano, None; M. Ueta, None; K. Namba, None; N. Mizuki, None; S. Ohno, None; T. Shirakawa, None; S. Kinoshita, None.
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 4974. doi:
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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)

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Abstract

Purpose: : To evaluate genetic factors for the pathogenesis of ocular complications of atopic dermatitis (AD).

Methods: : 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.

Results: : 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.

Conclusions: : 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.

Keywords: genetics • candidate gene analysis • cataract 
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