Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome
Authors Giannakopoulos M, Antonacopoulou A, Kottorou A, Kalofonos H, Gartaganis S
Received 10 July 2015
Accepted for publication 22 October 2015
Published 22 April 2016 Volume 2016:10 Pages 731—734
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 4
Editor who approved publication: Dr Scott Fraser
Marios P Giannakopoulos,1 Anna G Antonacopoulou,2 Anastasia E Kottorou,2 Haralabos P Kalofonos,2 Sotirios P Gartaganis1
1Department of Ophthalmology, School of Medicine, 2Department of Medicine, Molecular Oncology Laboratory, Division of Oncology, University of Patras, Rion, Greece
Purpose: In this study we aimed to evaluate the polymorphism at codon 129 (M129V) of the PRNP gene as a secondary risk factor for pseudoexfoliation syndrome (PEX).
Methods: Two hundred and seventy-five unrelated subjects, including 156 patients with PEX and 119 unrelated control subjects, were recruited from the University Hospital of Patras, Greece. All patients and controls were of Caucasian or European ancestry. The PRNP M129V (A/G) single-nucleotide polymorphism was genotyped by real-time polymerase chain reactions. Association of the polymorphism with PEX was assessed using the two-sided Pearson’s chi-squared or Fisher’s exact test.
Result: No significant difference between patients and controls was observed in terms of frequencies of alleles and genotypes of the PRNP gene.
Conclusion: Polymorphism at M129V of the PRNP gene was evaluated as a secondary risk factor for developing PEX. Our results suggest that this PRNP gene polymorphism is not associated with PEX.
Keywords: pseudoexfoliation syndrome, polymorphism, M129V, PEX, protein folding disorders
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