May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
A Case-Control Study of the Loxl1 Gene in Japanese Exfoliation Glaucoma Patients
Author Affiliations & Notes
  • K. Imai
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Ophthalmology,
  • K. Mori
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Ophthalmology,
  • A. Matsuda
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Ophthalmology,
  • Y. Ikeda
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Ophthalmology,
  • S. Naruse
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Ophthalmology,
  • M. Nakano
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Genomic Medical Sciences,
  • T. Taniguchi
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Genomic Medical Sciences,
  • N. Omi
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Genomic Medical Sciences,
  • K. Tashiro
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Genomic Medical Sciences,
  • S. Kinoshita
    Kyoto Prefectural Univ of Med, Kyoto, Japan
    Ophthalmology,
  • Footnotes
    Commercial Relationships  K. Imai, None; K. Mori, None; A. Matsuda, None; Y. Ikeda, None; S. Naruse, None; M. Nakano, None; T. Taniguchi, None; N. Omi, None; K. Tashiro, None; S. Kinoshita, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 5120. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      K. Imai, K. Mori, A. Matsuda, Y. Ikeda, S. Naruse, M. Nakano, T. Taniguchi, N. Omi, K. Tashiro, S. Kinoshita; A Case-Control Study of the Loxl1 Gene in Japanese Exfoliation Glaucoma Patients. Invest. Ophthalmol. Vis. Sci. 2008;49(13):5120. doi: https://doi.org/.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose: : A recent study revealed the association between exfoliation glaucoma (XFG) and the single nucleotide polymorphisms (SNPs) rs1048661 and rs3825942, which are located in the first exon of LOXL1, in the Icelandic and Swedish populations. The purpose of this study was to investigate the association between XFG and these two SNPs in the Japanese population.

Methods: : Ninety-five Japanese XFG patients and 190 Japanese control subjects were recruited after complete ophthalmic examinations. Genomic DNA was obtained and genotyping was performed for the two SNPs by direct sequence. In addition, cDNAs were prepared from the anterior lens capsule from 10 XFG patients and 10 cataract control subjects, and real-time PCR was performed to quantify LOXL1 mRNA expression.

Results: : The frequencies of the rs1048661-G allele were 0.47 in the control subjects and 0.005 in the XFG patients (P=1.8x10-28, Χ2 test). The frequencies of the rs3825942-G allele were 0.85 in the control subjects and 0.99 in the XFG patients (P=9.5x10-8). No difference in the amount of LOXL1 mRNA expression between XFG patients and cataract control subjects was observed.

Conclusions: : We found a strong genetic association between LOXL1 SNPs and XFG occurrence in the Japanese population. In contrast to the previous study in Iceland in which the G allele of rs1048661 was a risk factor, the T allele of rs1048661 was a strong risk allele for Japanese XFG.

Keywords: genetics 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×