Συσχέτιση τριών πολυμορφισμών ενός νουκλεοτιδίου, του γονιδίου Lysyl – Oxidase – like 1 (LOXL1) , με το ψευδοαποφολιδωτικό σύνδρομο και το ψευδοαποφολιδωτικό γλαύκωμα στον ελληνικό πληθυσμό ; Assosiation of lysyl – oxidase – like 1 gene common sequence variants in greek patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma

Purpose: Three common sequence variants in the lysyl oxidase-like 1 (LOXL1) gene were recently associated with pseudoexfoliation (PEX) and pseudoexfoliation glaucoma (PEXG) in populations from various parts of the world. In the present thesis, the genetic association of these variants was investigated in Greek patients with PEX and PEXG.Methods: The three LOXL1 single nucleotide polymorphisms (SNPs), one intronic (rs2165241) and two nonsynonymous coding SNPs (rs1048661: R141L and rs3825942: G153D), were genotyped in a total of 48 unrelated patients with PEX, 35 patients with PEXG, and 52 healthy subjects who had normal findings in repeated ophthalmic examinations. A genetic association study was performed.Results: Between the two coding SNPs, R141L did not show an association with PEX (p=0.297 for allele G, p=0.339 for genotype GG), whereas allele G of G153D showed a significant association (odds ratio [OR]=3.52, 95% confi¬dence interval [CI]=1.735–7.166, p=3.24×10−4 for allele G, p=0.004 for genotype GG). Likewise, for the intronic SNP of rs2165241, genotype TT (p=0.005) and its corresponding allele T (OR=2.99, 95% CI=1.625–5.527, p=3.53×10−4) showed a significant association with PEX. The allele G of G153D showed a significant association with PEXG (OR=3.74, 95% CI=1.670–8.387, p=0.001). The combined haplotype GGT, consisting of all three risk alleles, was associated with PEX (p=0.037), conferring a 1.8-fold of increased risk to the disease (OR=1.799, 95% CI=1.04–3.13). Furthermore, the hap¬lotype GGT presented in 39.8% of the patients with PEX and 26.9% of the controls.Conclusions: Certain genetic variants in LOXL1 confer risk for PEX in Greek populations, confirming in part findings in patients from Northern Europe. ; Σκοπός: Τρεις κοινοί πολυμορφισμοί του γονιδίου που κωδικοποιεί για το ένζυμο οξειδάση της λυσίνης 1 (lysyl oxidase-like 1- LOXL1) έχουν πρόσφατα συσχετιστεί με την εμφάνιση ψευδοαποφολιδωτικού συνδρόμου και γλαυκώματος σε μελέτες που πραγματοποιήθηκαν σε όλο τον κόσμο. Στην παρούσα διδακτορική ...