April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Candidate Gene Analysis of Primary Open-Angle Glaucoma in a Japanese Population using a Custom Chip
Author Affiliations & Notes
  • Yoko Ikeda
    Ophthalmology,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Kazuhiko Mori
    Ophthalmology,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Morio Ueno
    Ophthalmology,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Kojiro Imai
    Ophthalmology,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Masahiro Fuwa
    Genomic Medicial Sciences,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Yu-ichi Tokuda
    Genomic Medicial Sciences,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Masakazu Nakano
    Genomic Medicial Sciences,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Tomohito Yagi
    Genomic Medicial Sciences,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Kei Tashiro
    Genomic Medicial Sciences,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Shigeru Kinoshita
    Ophthalmology,
    Kyoto Prefectural Univ of Med, Kamigyo-ku, Japan
  • Footnotes
    Commercial Relationships  Yoko Ikeda, None; Kazuhiko Mori, None; Morio Ueno, None; Kojiro Imai, None; Masahiro Fuwa, None; Yu-ichi Tokuda, None; Masakazu Nakano, None; Tomohito Yagi, None; Kei Tashiro, Santen Pharmaceutical Co., Ltd (F); Shigeru Kinoshita, None
  • Footnotes
    Support  Ministry of Health,JST
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 3301. doi:
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    • Get Citation

      Yoko Ikeda, Kazuhiko Mori, Morio Ueno, Kojiro Imai, Masahiro Fuwa, Yu-ichi Tokuda, Masakazu Nakano, Tomohito Yagi, Kei Tashiro, Shigeru Kinoshita; Candidate Gene Analysis of Primary Open-Angle Glaucoma in a Japanese Population using a Custom Chip. Invest. Ophthalmol. Vis. Sci. 2011;52(14):3301.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : Although more than 20 kinds of genes, including MYOC, OPTN, and WDR36, have to date been reported as glaucoma-related genes, there has yet to be a study describing a candidate gene analysis of primary open-angle glaucoma (POAG) (including normal tension glaucoma) using a large population. In this study, we analyzed the single nucleotide polymorphisms (SNPs) that were previously reported as POAG-associated SNPs using a large Japanese population.

Methods: : We enrolled 521 POAG patients (250 males and 271 females; mean age: 61.5±14.1 years) and 519 normal subjects (188 males and 331 females; mean age: 55.9±14.6 years) without glaucoma or a family history of glaucoma. Written informed consent was obtained from all participants. Genomic DNA was extracted from the subjects and genotyped with the Illumina iSelect HD Custom Genotyping BeadChip (Illumina, Inc. San Diego, CA). In total, 154 SNPs consisting of 1) 55 SNPs from MYOC, OPTN, and WDR36, 2) 15 SNPs from the previously reported 22 genes except the SNPs from category 1, 3) 48 dbSNPs on the exons of 22 genes from category 2; and 4) 36 dbSNPs located on ~1 kb upstream of the 22 genes from category 2 were analyzed by chi-square test for both allele and genotype frequency.

Results: : We obtained a significant (p<0.05) SNP (rs11258194; M98K) from OPTN and 4 SNPs from WDR36 (rs1993465, rs13153937, rs6859041, and rs2034896) by the allele- and genotype-frequency analyses, respectively. We also obtained 2 significant SNPs on the exons of the β2 receptor gene, ADRB2 (rs1042720), and 1 of the reductase genes, MTHFR (rs11559040), by the allele- and genotype-frequency analyses, respectively.

Conclusions: : OPTN M98K, 4 SNPs of WDR36, and 1 SNP each of both ADRB2 and MTHFR were found to be significant. These SNPs might be important for the pathogenesis of glaucoma.

Keywords: genetics 
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