May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Association Between LOC387715/HTRA1 and Japanese Exudative Age-Related Macular Degeneration
Author Affiliations & Notes
  • N. Gotoh
    Ophthalmology, Kyoto University, Kyoto, Japan
    Center for Genomic Medicine, Kyoto University, Japan
  • H. Nakanishi
    Ophthalmology, Kyoto University, Kyoto, Japan
    Center for Genomic Medicine, Kyoto University, Japan
  • H. Hayashi
    Ophthalmology, Kyoto University, Kyoto, Japan
    Center for Genomic Medicine, Kyoto University, Japan
  • A. Otani
    Ophthalmology, Kyoto University, Kyoto, Japan
  • A. Tsujikawa
    Ophthalmology, Kyoto University, Kyoto, Japan
  • H. Tamura
    Ophthalmology, Kyoto University, Kyoto, Japan
  • M. Saito
    Ophthalmology, Fukushima Medical University, Fukushima, Japan
  • K. Saito
    Ophthalmology, Fukushima Medical University, Fukushima, Japan
  • T. Iida
    Ophthalmology, Fukushima Medical University, Fukushima, Japan
  • N. Yoshimura
    Ophthalmology, Kyoto University, Kyoto, Japan
  • Footnotes
    Commercial Relationships  N. Gotoh, None; H. Nakanishi, None; H. Hayashi, None; A. Otani, None; A. Tsujikawa, None; H. Tamura, None; M. Saito, None; K. Saito, None; T. Iida, None; N. Yoshimura, None.
  • Footnotes
    Support  The Ministry of Education, Culture, Sports, Science and Technology of Japan, and the Japan National Society for The Prevention of Blindness
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2659. doi:https://doi.org/
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      N. Gotoh, H. Nakanishi, H. Hayashi, A. Otani, A. Tsujikawa, H. Tamura, M. Saito, K. Saito, T. Iida, N. Yoshimura; Association Between LOC387715/HTRA1 and Japanese Exudative Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2659. doi: https://doi.org/.

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

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Abstract

Purpose: : Because there was no data available with regard to whether the single nucleotide polymorphism (SNP) in PLEKHA1/LOC387715/HTRA1 played the most important role in the development of Japanese exudative age-related macular degeneration (AMD) including polypoidal choroidal vasculopathy (PCV), we performed genotyping tagSNPs of HapMap based in addition to rs10490924 and rs11200638.

Methods: : Cases of 203 unrelated exudative AMD including PCV (mean age, 74.2 years; deviation, 8.05 years; male:female ratio, 72.5%:27.5%) were recruited at the Center for Macular Diseases, Department of Ophthalmology, Kyoto University Hospital, and at the Department of Ophthalmology, Fukushima Medical University Hospital. Based on the linkage disequilibrium (LD) block and the haplotype information for the Japanese and European populations that was provided by the HapMap project, we focused on the 85.2 kb DNA (from nucleotide number 124179187 to 124264414 in NT_030059.12), which encompassed PLEKHA1/LOC387715/HTRA1. For the genotyping study, additionally to previous reported risk allele of rs11200638 and rs10490924, we chose 25 additional tag SNPs from the rs10490924 and rs11200638 region that had minor allele frequencies greater than 0.2 and a square of the correlation coefficient r2 >0.8 in the HapMap CEU or JPT (total 27 SNPs).

Results: : The HWE test indicated that all of the SNPs were at equilibrium in the control population. In the exudative macular disease population, however, rs10490924, rs3793917 and rs11200638 did not meet the HWE expectation. Linkage disequilibrium analysis demonstrated a strong LD (D' = 0.975) for rs10490924 G/T, rs3793917 G/C, and rs11200638 G/A and the formation of two exclusive haplotypes, G-G-G and T-C-A. When the haplotypes were inferred with a solid spine of D'>0.8, the LD, which included rs10490924 and rs11200638, was further extended to the 21 kb region between rs2736911 and rs2672587. Statistical analysis revealed that the statistical significance noted for the 7 out of the 10 SNPs that exhibited a potential association with AMD (P < 0.01) still remained even after correction for multiple testing .

Conclusions: : Strong LD containing rs10490924 and rs11200638 made indiscriminating which SNP is the most attributable for Japanese exudative AMD and PCV.

Keywords: age-related macular degeneration • genetics 
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