Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population
Abstract Purpose Pseudoexfoliation syndrome (PEX) is distinguished by the deposition of fibrillary material within the aqueous humor and, in most cases, causes pseudoexfoliative glaucoma (PEG). The pathophysiologies of PEX and PEG are not completely explained. Therefore, this study aimed to assess t...
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| Format: | Article |
| Language: | English |
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BMC
2023-03-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-023-02850-3 |
| _version_ | 1797860035609493504 |
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| author | Birsen Can Demirdöğen Sinem Demirkaya-Budak |
| author_facet | Birsen Can Demirdöğen Sinem Demirkaya-Budak |
| author_sort | Birsen Can Demirdöğen |
| collection | DOAJ |
| description | Abstract Purpose Pseudoexfoliation syndrome (PEX) is distinguished by the deposition of fibrillary material within the aqueous humor and, in most cases, causes pseudoexfoliative glaucoma (PEG). The pathophysiologies of PEX and PEG are not completely explained. Therefore, this study aimed to assess the potential relationship between single nucleotide polymorphisms (SNPs) in the 3ʹ untranslated region or introns of the clusterin gene (CLU) and the susceptibility to developing PEG or PEX. Methods Two hundred and forty patients with PEX, 239 patients with PEG, and 240 control subjects were included. Genotyping was carried out using real-time PCR (rs2279590 C/T and rs1532278 C/T) or PCR followed by restriction endonuclease digestion (rs11136000 C/T and rs3087554 T/C). Results The minor alleles or genotypes of CLU SNPs were not significantly associated with PEX or PEG. IOP values of patients with PEX carrying the homozygote polymorphic TT genotype were significantly elevated compared with PEX cases with the CT or CC genotypes for rs2279590, rs11136000 and rs1532278 (P = .009, P = .007, P = .010, respectively). Conclusion We present the first evidence that three SNPs in CLU gene (rs2279590, rs11136000 and rs1532278) might induce a rise in IOP in patients with PEX, conferring susceptibility to develop PEG. |
| first_indexed | 2024-04-09T21:39:13Z |
| format | Article |
| id | doaj.art-94a57d63682a49ba94b8d1b9a2014139 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-04-09T21:39:13Z |
| publishDate | 2023-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-94a57d63682a49ba94b8d1b9a20141392023-03-26T11:08:07ZengBMCBMC Ophthalmology1471-24152023-03-0123111010.1186/s12886-023-02850-3Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish populationBirsen Can Demirdöğen0Sinem Demirkaya-Budak1Department of Biomedical Engineering, TOBB University of Economics and TechnologyDepartment of Biomedical Engineering, TOBB University of Economics and TechnologyAbstract Purpose Pseudoexfoliation syndrome (PEX) is distinguished by the deposition of fibrillary material within the aqueous humor and, in most cases, causes pseudoexfoliative glaucoma (PEG). The pathophysiologies of PEX and PEG are not completely explained. Therefore, this study aimed to assess the potential relationship between single nucleotide polymorphisms (SNPs) in the 3ʹ untranslated region or introns of the clusterin gene (CLU) and the susceptibility to developing PEG or PEX. Methods Two hundred and forty patients with PEX, 239 patients with PEG, and 240 control subjects were included. Genotyping was carried out using real-time PCR (rs2279590 C/T and rs1532278 C/T) or PCR followed by restriction endonuclease digestion (rs11136000 C/T and rs3087554 T/C). Results The minor alleles or genotypes of CLU SNPs were not significantly associated with PEX or PEG. IOP values of patients with PEX carrying the homozygote polymorphic TT genotype were significantly elevated compared with PEX cases with the CT or CC genotypes for rs2279590, rs11136000 and rs1532278 (P = .009, P = .007, P = .010, respectively). Conclusion We present the first evidence that three SNPs in CLU gene (rs2279590, rs11136000 and rs1532278) might induce a rise in IOP in patients with PEX, conferring susceptibility to develop PEG.https://doi.org/10.1186/s12886-023-02850-3BiomarkerChaperonePolymorphismSNPSusceptibilityVariation |
| spellingShingle | Birsen Can Demirdöğen Sinem Demirkaya-Budak Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population BMC Ophthalmology Biomarker Chaperone Polymorphism SNP Susceptibility Variation |
| title | Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population |
| title_full | Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population |
| title_fullStr | Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population |
| title_full_unstemmed | Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population |
| title_short | Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population |
| title_sort | influence of clusterin genetic variants on iop elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in turkish population |
| topic | Biomarker Chaperone Polymorphism SNP Susceptibility Variation |
| url | https://doi.org/10.1186/s12886-023-02850-3 |
| work_keys_str_mv | AT birsencandemirdogen influenceofclusteringeneticvariantsoniopelevationinpseudoexfoliationsyndromeandpseudoexfoliativeglaucomainturkishpopulation AT sinemdemirkayabudak influenceofclusteringeneticvariantsoniopelevationinpseudoexfoliationsyndromeandpseudoexfoliativeglaucomainturkishpopulation |