May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Association Between Lysyl Oxidase Gene (LOX) and Keratoconus
Author Affiliations & Notes
  • X. Li
    Cedars Sinai Medical Center, Los Angeles, California
    Medical Genetics,
  • Y. G. Tang
    Cedars Sinai Medical Center, Los Angeles, California
    Cornea-Genetic Eye Institute, Division of Ophthalmology,
  • Y. S. Rabinowitz
    Cedars Sinai Medical Center, Los Angeles, California
    Cornea-Genetic Eye Institute, Division of Ophthalmology,
  • Footnotes
    Commercial Relationships  X. Li, None; Y.G. Tang, None; Y.S. Rabinowitz, None.
  • Footnotes
    Support  The Eye Birth Defects Research Foundation Inc and NEI 09052
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 6090. doi:https://doi.org/
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    • Get Citation

      X. Li, Y. G. Tang, Y. S. Rabinowitz; Association Between Lysyl Oxidase Gene (LOX) and Keratoconus. Invest. Ophthalmol. Vis. Sci. 2008;49(13):6090. doi: https://doi.org/.

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

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Abstract

Purpose: : To test the association between LOX gene and keratoconus.

Methods: : We genotyped 8 SNPs along the whole gene, including the 5’ promoter and 3’ noncoding regions, in the family-based keratoconus samples. In total 395 subjects (257 Caucasians, 102 Hispanics and 36 subjects from other ethnic groups) in 72 keratoconus pedigrees were studied. Transmission disequilibrium test (TDT) implemented in GeneHunter 2.0 was performed for both single SNP and haplotype analysis.

Results: : Only one SNP (rs3792803) showed significant association with keratoconus in Caucasians (transmitted vs non-transmitted: 0 vs 4, p=0.046). In Hispanics, there were no associations identified. After combining all pedigrees, the association between this SNP and keratoconus remained significant (transmitted vs non-transmitted: 1 vs 11, p=0.004) at Bonferroni-adjusted alpha level (0.006). Using the haplotype approach, we identified an association between rs3792803-rs10519694 (CG) and keratoconus (transmitted vs non-transmitted: 0 vs 10, p=0.014) after correcting for multiple testing.

Conclusions: : These results suggest LOX gene may contribute to the etiology of keratoconus. Further studies to confirm these findings using a case-control design are ongoing.

Keywords: keratoconus • gene mapping 
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