Abstract | PURPOSE: METHODS: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to analyze XPD Asp312Asn and Lys751Gln and XRCC1 Arg194Trp and Arg399Gln in 120 patients with AMD (65 with dry type and 55 with wet type) and in age-matched 205 disease-free control subjects. RESULTS: Genotypic and allelic distributions of the polymorphisms were detected. For the XPD polymorphism, although the allele frequencies were not different between the patients and healthy control subjects, there was a significant difference between frequencies for the XPD751 Gln/Gln genotype in AMD patients (9%) and healthy control subjects (19%; P=0.02). The XPD751 Gln/Gln genotype seemed to have a protective effect against development of AMD (odds ratio, 0.41; 95% confidence interval, 0.19-0.88). Stratification by subtype of AMD revealed that the XPD751 Gln/Gln genotype was significantly lower only in the patients with dry type (P=0.02). These interactions remained nearly significant after Bonferroni correction (P<0.0125). Haplotype analysis for the two XPD polymorphisms revealed that the haplotype GC (312Asp-(751)Gln) was a protective haplotype against AMD. No statistically significant difference was found for the genotypic and allelic distributions of the polymorphisms in the XRCC1 gene between the patients and the control subjects. CONCLUSIONS: Polymorphism in XPD codon 751 may be associated with the development of AMD.
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Authors | Ebru Görgün, Mehmet Güven, Mustafa Unal, Bahadir Batar, Gülgün S Güven, Melda Yenerel, Sinan Tatlipinar, Mehmet Seven, Adnan Yüksel |
Journal | Investigative ophthalmology & visual science
(Invest Ophthalmol Vis Sci)
Vol. 51
Issue 9
Pg. 4732-7
(Sep 2010)
ISSN: 1552-5783 [Electronic] United States |
PMID | 20375340
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Codon
- DNA-Binding Proteins
- X-ray Repair Cross Complementing Protein 1
- XRCC1 protein, human
- Xeroderma Pigmentosum Group D Protein
- ERCC2 protein, human
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Topics |
- Aged
- Aged, 80 and over
- Case-Control Studies
- Codon
(genetics)
- DNA Repair
(genetics)
- DNA-Binding Proteins
(genetics)
- Female
- Gene Frequency
- Genetic Predisposition to Disease
(epidemiology)
- Haplotypes
- Humans
- Macular Degeneration
(epidemiology, genetics)
- Male
- Middle Aged
- Polymorphism, Restriction Fragment Length
- Risk Factors
- X-ray Repair Cross Complementing Protein 1
- Xeroderma Pigmentosum Group D Protein
(genetics)
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