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Miscellaneous (34)

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Abstract #78781 Published in IGR 20-1

Three Single Nucleotide Polymorphisms of ' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Yaz Y; Yıldırım N; Aydın Yaz Y; Çilingir O; Yüksel Z; Mutlu F
Turkish journal of ophthalmology 2018; 48: 215-220

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OBJECTIVES: To investigate the three single nucleotide polymorphisms (SNPs) (rs3825942, rs1048661, and rs2165241) of the gene in pseudoexfoliation syndrome (XFS) and pseudoexfoliation glucoma (XFG) in the Turkish population. MATERIALS AND METHODS: DNA was obtained from blood samples of 48 XFS, 58 XFG, and 171 control subjects. Three SNPs (rs3825942, rs1048661, rs2165241) were investigated with real time PCR, a probe-based genotyping method, and melting curve analysis. RESULTS: All three SNPs of were significantly associated with XFS (rs3825942 p=3.54x10, odds ratio [OR]=∞; rs1048661 p=0.008, OR=2.18; rs2165241 p=8.69x10, OR=4.30) and XFG (rs3825942 p=3.41x10, OR=∞; rs1048661 p=1.75x10, OR=3.78; rs2165241 p=3.85x10 OR=4.90). No significant differences were observed between the XFS and XFG groups for any of the SNPs. The GG genotype of rs3825942 was more valuable for distinguishing pseudoexfoliative cases from healthy individuals. The homozygous TT genotype of rs2165241 was associated with 6-fold increased XFS risk (p=8.15x10, OR=6.32) and 7-fold increased XFG risk (p=1.45x10 OR=7.95). The GGT haplotype consisting of all three risk alleles was associated with a 7.45-fold higher risk of XFS/XFG (p=8.65x10, OR=7.45). Presence of T allele of rs2165241 conferred 3 times higher risk for men than women (p=6.78x10, OR=3.202). CONCLUSION: Array

Eskişehir Yunus Emre State Hospital, Ophthalmology Clinic, Eskişehir, Turkey.

Full article

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Classification:

9.4.4.1 Exfoliation syndrome (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.4 Glaucomas associated with disorders of the lens)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)

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