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