PLoS Genetics (Sep 2009)

A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1.

  • Hideo Nakanishi,
  • Ryo Yamada,
  • Norimoto Gotoh,
  • Hisako Hayashi,
  • Kenji Yamashiro,
  • Noriaki Shimada,
  • Kyoko Ohno-Matsui,
  • Manabu Mochizuki,
  • Masaaki Saito,
  • Tomohiro Iida,
  • Keitaro Matsuo,
  • Kazuo Tajima,
  • Nagahisa Yoshimura,
  • Fumihiko Matsuda

DOI
https://doi.org/10.1371/journal.pgen.1000660
Journal volume & issue
Vol. 5, no. 9
p. e1000660

Abstract

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Myopia is one of the most common ocular disorders worldwide. Pathological myopia, also called high myopia, comprises 1% to 5% of the general population and is one of the leading causes of legal blindness in developed countries. To identify genetic determinants associated with pathological myopia in Japanese, we conducted a genome-wide association study, analyzing 411,777 SNPs with 830 cases and 1,911 general population controls in a two-stage design (297 cases and 934 controls in the first stage and 533 cases and 977 controls in the second stage). We selected 22 SNPs that showed P-values smaller than 10(-4) in the first stage and tested them for association in the second stage. The meta-analysis combining the first and second stages identified an SNP, rs577948, at chromosome 11q24.1, which was associated with the disease (P = 2.22x10(-7) and OR of 1.37 with 95% confidence interval: 1.21-1.54). Two genes, BLID and LOC399959, were identified within a 200-kb DNA encompassing rs577948. RT-PCR analysis demonstrated that both genes were expressed in human retinal tissue. Our results strongly suggest that the region at 11q24.1 is a novel susceptibility locus for pathological myopia in Japanese.