| Autor: |
N, Kobakhidze, S, Tabagari, G, Chichua |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
Georgian medical news. (286) |
| ISSN: |
1512-0112 |
| Popis: |
The aim of this study was to identify susceptibility variants of LOXL1 gene for Exfoliation Syndrome and Exfoliation Glaucoma by a case-control association study approach in Georgian population. Self-reported Georgian subjects were recruited between 2015 and 2017 at a specialized ophthalmic center. Patients underwent detailed ophthalmic examination to diagnose or exclude Exfoliation Syndrome (XFS) and Exfoliation Glaucoma (XFG). Patients underwent peripheral blood sampling. Genome-Wide Association Study (GWAS) was performed using Illumina OmniExpress Microarray. One hundred and thirty-two XFS patients and 195 healthy subjects were included into the study. Four LOXL1 variants were identified: rs2165241, rs3825942 (G153A), rs4886776 (R141L) and rs8042039 (G153D). Allele A of rs2165241 and allele G of rs3825942 are likely the main risk factors of disease development in Georgians with p=0.0001; OR= 5.8; 95% CI: 1.9986-16.9372 and p=0.002; OR=4.6; 95% CI: 1.7531-12.3146, respectively, both present in 96% of affected patients. The above-mentioned alleles are also encountered in more than 80% of healthy individuals. Two other SNPs have been described for the first time in exfoliation patients, though they appear to have no effect on the disease development in Georgian population. Two high-risk alleles of LOXL1 gene have been identified in Georgian population. As these SNPs are also very prevalent in healthy subjects, further studies are needed to identify the genetic mechanisms of exfoliation syndrome and exfoliation glaucoma. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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