Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482
| Autor: | Mukharram M. Bikbov, Oksana V. Selezneva, E. L. Usubov, Liubov O. Skorodumova, Olga P. Antonova, Olga Yu Fedorenko, Anastasia Levchenko, Liliia N. Iulmetova, Elena S. Zakharova, Svetlana A. Ivanova, Alexandra V. Belodedova, Boris Malyugin, Raul R. Gainetdinov, Elena I. Sharova |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Keratoconus
Genotyping genetic structures COL5A1 SNP Single-nucleotide polymorphism Genome-wide association study Polymorphism Single Nucleotide Cornea symbols.namesake medicine GWAS Humans Genetic Predisposition to Disease Promoter Regions Genetic Sanger sequencing Genetics business.industry Research FOXO1 Promoter General Medicine RE1-994 medicine.disease eye diseases Minor allele frequency Ophthalmology MPDZ Case-Control Studies symbols sense organs business Collagen Type V SNP array |
| Zdroj: | BMC Ophthalmology BMC Ophthalmology, Vol 21, Iss 1, Pp 1-9 (2021) |
| ISSN: | 1471-2415 |
| Popis: | Background Keratoconus 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. Methods This 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. Results The minor allele frequency was significantly different between the keratoconus and control cohorts (main and combined) for rs1536482, rs2721051, and rs1324183 (p-value COL5A1 promoter in two out of 94 rs1536482+ keratoconus patients. Conclusion rs1536482, 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. |
| Databáze: | OpenAIRE |
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