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Research Paper|Volume 1, Issue 2|pp 266—274

Positive association of common variants in CD36 with neovascular age-related macular degeneration

Naoshi Kondo1, Shigeru Honda1, Shin-ichi Kuno2,3, Akira Negi1
  • 1Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan
  • 2Translational Research Informatics Center, Foundation for Biomedical Research and Innovation, 1-5-4 Minatojima-Minamimachi, Chuo-ku, Kobe 650-0047, Japan
  • 3Clinical Genome Informatics Center, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan
Received: November 10, 2008Accepted: January 15, 2009Published: February 12, 2009
https://doi.org/10.18632/aging.100006

Copyright: © 2009 Kondo et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Age-related macular degeneration (AMD) is a leading cause of legal blindness among older individuals of industrialized countries. In neovascular AMD, which is an advanced stage of AMD, choroidal neovascularization develops underneath the macula and destroys central vision. Oxidative stress is a hypothesized pathway for the pathophysiology of AMD. CD36 was chosen as a candidate gene for neovascular AMD because the protein plays an important role in this pathway as well as in angiogenesis and in maintaining chorioretinal homeostasis. We tested 19 tag single nucleotide polymorphisms (SNPs) across CD36 for their association with the disease in a Japanese population comprising 109 neovascular AMD subjects and 182 unrelated controls. Five of the 19 SNPs demonstrated a nominally significant association with neovascular AMD (P < 0.05), of which two (rs3173798 and rs3211883) withstood Bonferroni correction for multiple testing (rs3173798, nominal P = 9.96 × 10−4, allele-specific odds ratio = 0.55; rs3211883, nominal P = 2.09 × 10−4, allele-specific odds ratio = 0.50). Population structure analyses excluded stratification artifacts in our study cohort. This study supports the candidacy of CD36 as a novel susceptibility gene for neovascular AMD. Replication of our results in other populations will provide further convincing evidence for the genetic association.