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Inas Helwa, Khaled Abu-Amero, Abdulrahman Al-Muammar, Shelby Strickland, Michael A Hauser, R. Rand Allingham Allingham, Yutao Liu; Association between CCT-associated variants and keratoconus in a Saudi Arabian population. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2512.
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Keratoconus (KC) is the most common primary non-inflammatory ectatic disease of the cornea and one of the major indications for corneal transplant in the developed countries. The incidence of keratoconus is known to exhibit geographic diversity related to genetic variations. Due to the genetic complexity of the disease, limited genetic loci have been confirmed as major risk factors for the disease incidence across different populations. Significant association has recently been reported between KC and eight single nucleotide polymorphisms (SNPs) in the genomic regions of FNDC3B, COL4A3, MPDZ-NF1B, RXRA-COL5A1, LCN12-PTGDS, FOXO1, and BANP-ZNF469. These SNPs are also associated with central corneal thickness (CCT), a known risk factor to keratoconus. The purpose of this study was to investigate whether these SNPs play a significant role in the incidence of KC in a population from Saudi Arabia.
The study included 108 unrelated cases with KC and 300 controls matched for ethnicity. Patients were diagnosed with KC according to the Schimpff-flow based elevation map of the cornea. DNA genotyping for the selected SNPs was done using probe-based allelic discrimination TaqMan assays from Life Technologies. Allele frequencies were compared between the cases and controls.
None of the selected SNPs were significantly associated with KC in the Saudi Arabia population. Compared with previously reported association in Caucasians, 5 of 8 SNPs were noted with similar allele frequency differences between cases and controls. The lack of significance is probably due to the limited statistical power with our dataset.
There was no association between these reported SNPs and the risk of KC in the Saudi Arabian population. This is the first study investigating these genetic variants in a population from Saudi Arabia. We will include additional KC cases from Saudi Arabia to increase the statistical power of our study in the future.
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