Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/10402
Title: Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population
Authors: Demirdöğen, B.C.
Demirkaya-Budak, S.
Keywords: Biomarker
Chaperone
Polymorphism
SNP
Susceptibility
Variation
Issue Date: 2023
Publisher: BioMed Central Ltd
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. © 2023, The Author(s).
URI: https://doi.org/10.1186/s12886-023-02850-3
https://hdl.handle.net/20.500.11851/10402
ISSN: 1471-2415
Appears in Collections:Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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