Research article summary (published 3 Jan 2007):

Polymorphisms of DNA repair genes XRCC1 and XPD and risk of primary open angle glaucoma (POAG).

Full Abstract

PURPOSE: Oxidative DNA damage has been shown to have some role in the development of primary open angle glaucoma (POAG). In this study, we aimed to determine the frequency of polymorphisms in two DNA repair enzyme genes, Xeroderma pigmentosum complementation group D (XPD) codon 751 and X-ray cross-complementing group 1 (XRCC1) codon 399, in a sample of Turkish patients with POAG, and to evaluate their association with POAG development. METHODS: We used polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), to analyze XRCC1-Arg399Gln and XPD -Lys751Gln polymorphisms in 144 patients with POAG and in 121 disease-free controls, who were of a similar age. RESULTS: There was no significant difference in the genotype distribution between POAG patients and controls for each polymorphism (p>0.05). Allele frequencies were also not statistically different between the groups (p=0.46; OR: 0.77; 95% CI:0.42-1.43 for XRCC1 399Gln and p=0.88; OR: 0.92 95% CI: 0.50-1.67 for XPD 751Gln). CONCLUSIONS: Polymorphisms in XPD codon 751 and XRCC1 codon 399 were not associated with risk of POAG in a sample of Turkish patients.

Author information

Author/s: Güven, Mehmet (M); Unal, Mustafa (M); Batar, Bahadir (B); Eroglu, Ebru (E); Devaroglu, Kazim (K); Tamçelik, Nevbahar (N); Uçar, Didar (D); Sarici, Ahmet (A);

Affiliation: Department of Medical Biology, Cerrahpasa Faculty of Medicine, University of Istanbul, Istanbul, Turkey.

Journal and publication information

Publication Type: Journal Article

Journal: Molecular vision (Mol Vis), published in United States. (Language: eng)

Reference: 2007-; vol 13 (issue ) : pp 12-7

Dates: Created 2007/01/23; Completed 2007/02/06; Revised 2008/11/20;

PMID: 17242676, status: MEDLINE (last retrieved date: 2/18/2009)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MeSH Headings (categories) shown below.

Aged Case-Control Studies DNA Repair - genetics DNA-Binding Proteins - genetics Female Gene Frequency Genetic Predisposition to Disease Genotype Glaucoma, Open-Angle - genetics

Glaucoma, Open-Angle - genetics Humans Male Middle Aged Polymerase Chain Reaction Polymorphism, Genetic Polymorphism, Restriction Fragment Length Turkey Xeroderma Pigmentosum Group D Protein - genetics

Note: Bold headings indicate primary MeSH headings or qualifiers.

Associated Chemicals: DNA-Binding Proteins (0) ; X-ray repair cross complementing protein 1 (0) ; ERCC2 protein, human (EC 5.99.-) ; Xeroderma Pigmentosum Group D Protein (EC 5.99.-)

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