Abstract
Background: ALDH3A1 protein is important in maintaining corneal physiology and protecting the eye from UV damage. However, none of the genome-wide association studies has indicated that the ALDH3A1 locus is associated with keratoconus. In this study, we examined the potential role of ALDH3A1 variants as risk factors for keratoconus incidence and severity in a large group of Polish keratoconus patients. Methods: In the first stage we analyzed the coding region sequence of the ALDH3A1 in a subgroup of keratoconus. Then, we genotyped three selected ALDH3A1 variants in a larger KC group of patients (n = 261) and healthy controls (n = 317). Results: We found that the rs1042183 minor allele A is a risk factor for keratoconus in the dominant model (OR = 2.06, 95%CI = 1.42–2.98, p = 0.00013). The rs2228100 variant genotypes appear to be associated with an earlier age of KC diagnosis in the Polish population (p = 0.055 for comparison of three genotypes and p = 0.022 for the dominant inheritance model). Conclusions: The rs1042183 variant in ALDH3A1 is associated with keratoconus risk in the Polish population. The differences in the allele frequency between both populations could be partially responsible for the difference in the disease prevalence.
Highlights
Keratoconus (KC) is a major clinical eye disorder and the most common indication for corneal transplantation
We investigated the potential role of ALDH3A1 variants as risk factors for KC incidence and severity
This study is an extension of our results presented at the Association for Research in Vision and Ophthalmology (ARVO) annual meeting 2016 [20] for reporting the first time an association has been found of ALDH3A1 variants with KC in Poles
Summary
Keratoconus (KC) is a major clinical eye disorder and the most common indication for corneal transplantation. KC results in the weakening of the cornea and is caused by a complex collagen disorder distinguished by steepening of the cornea shape with irregular astigmatism or high myopia leading to major visual impairment It is a multifactorial phenomenon of unclear aetiology with a substantial input from environmental factors. In Singapore, corneal steepness is much more frequent in the Indian population than in the Chinese or Malays [3], while in the English Midlands, Caucasians show 4.4 times lower KC incidence than Asians [4] Such differences, and those in the age of onset of the disease, suggest a non-negligible genetic component to the KC aetiology, which underscores its multigenic character. The differences in the allele frequency between both populations could be partially responsible for the difference in the disease prevalence
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