Abstract
BackgroundKeratoconus is a chronic degenerative disorder of the cornea characterized by thinning and cone-shaped protrusions. Although genetic factors play a key role in keratoconus development, the etiology is still under investigation. The occurrence of single-nucleotide polymorphisms (SNPs) associated with keratoconus in Russian patients is poorly studied. The purpose of this study was to validate whether three reported keratoconus-associated SNPs (rs1536482 near the COL5A1 gene, rs2721051 near the FOXO1 gene, rs1324183 near the MPDZ gene) are also actual for a Russian cohort of patients. Additionally, we investigated the COL5A1 promoter sequence for single-nucleotide variants (SNVs) in a subgroup of keratoconus patients with at least one rs1536482 minor allele (rs1536482+) to assess the role of these SNVs in keratoconus susceptibility associated with rs1536482.MethodsThis case-control study included 150 keratoconus patients and two control groups (main and additional, 205 and 474 participants, respectively). We performed PCR targeting regions flanking SNVs and the COL5A1 promoter, followed by Sanger sequencing of amplicons. The additional control group was genotyped using an SNP array.ResultsThe minor allele frequency was significantly different between the keratoconus and control cohorts (main and combined) for rs1536482, rs2721051, and rs1324183 (p-value < 0.05). The rare variants rs1043208782 and rs569248712 were found in the COL5A1 promoter in two out of 94 rs1536482+ keratoconus patients.Conclusionrs1536482, rs2721051, and rs1324183 were associated with keratoconus in a Russian cohort. SNVs in the COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.
Highlights
Keratoconus is a chronic degenerative disorder of the cornea characterized by thinning and coneshaped protrusions
This study aimed to investigate the replication of three Single nucleotide polymorphism (SNP) with keratoconus in the largest sample of patients from Russia
Here, we present the results of the genotyping of keratoconus-associated SNPs in a Russian cohort of 829 subjects
Summary
Keratoconus is a chronic degenerative disorder of the cornea characterized by thinning and coneshaped protrusions. The occurrence of single-nucleotide polymorphisms (SNPs) associated with keratoconus in Russian patients is poorly studied. The purpose of this study was to validate whether three reported keratoconus-associated SNPs (rs1536482 near the COL5A1 gene, rs2721051 near the FOXO1 gene, rs1324183 near the MPDZ gene) are actual for a Russian cohort of patients. Keratoconus is the most common primary ectatic disorder associated with thinning, stretching, and conical protrusion of the central part of the cornea. The progression of this disease can lead to severe visual impairment due to corneal irregularities and scarring. The presence of undiagnosed disease in a patient can lead to severe complications after laser refractive interventions, such as the manifestation of reactive keratoconus and its atypical progression [3, 4]. The development of approaches for the early diagnosis of keratoconus is highly clinically relevant
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