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01-12-2012 | Original Article

Polymorphisms of DNA repair genes and sun exposure as predisposing factors for age related cataract

Authors: Asmaa Ismail Ahmed, Mohammed Yasser Sayed Saif, Abeer Ahmed Zayed

Published in: Comparative Clinical Pathology | Issue 6/2012

Abstract

Age-related cataract is a leading cause of blindness throughout the world. Regular exposure to sunlight increases the risk of cataract development. Ultraviolet light causes oxidative stress which induces DNA damage in the lens epithelium and the development of opacities. The existence of DNA repair in lens epithelial cells has been reported, and polymorphisms of DNA repair genes may affect repair efficiency. This work aims to study the frequency of polymorphisms of two DNA repair genes, xeroderma pigmentosum complementation group D (XPD) codon751 and X-ray cross-complementing group 1 (XRCC1) codon399, in cataract in the sunny weather of Egypt. Forty-two Egyptian patients with maturity onset cataract were compared to 41 control subjects using polymerase chain reaction and restriction fragment length polymorphism. There was a significant increase in frequency of XRCC1-399 Arg/Arg genotype in cataract patients (42.8%) compared to healthy controls (22%) (p = 0.042).This increase remained significant after redistribution according to occupational exposure. No significant difference was found for the genotypic and allelic distributions of the polymorphisms in XPD-751 gene (p > 0.05) between groups. There was a significant increase in cataract development in subjects with high exposure risk to sunlight more than those with low risk, either due to their occupation (p = 0.034) or to residence in sunny areas of upper Egypt (p = 0.037). Findings suggest that polymorphism in XRCC1 codon399 may predispose to the development of maturity-onset cataract and support the hypothesis that sun exposure is a leading factor for cataract development.

Asbell PA, Dualan I, Mindel J, Brocks D, Ahmad M, Epstein S (2005) Age-related cataract. Lancet 365:599–609PubMed

Ates NA, Yildirim O, Tamer L, Ünlü A, Ercan B, Muşlu N, Kanik A, Hatungil R (2004) Atik U plasma catalase activity and malondialdehyde level in patients with cataract. Eye 18:785–788. doi:10.1038/sj.eye.6700718 PubMedCrossRef

Caldecott KW (2003) XRCC1 and DNA strand break repair. DNA Repair (Amst) 2:955–969CrossRef

Chiang C, Tsai Y, Bau D, Cheng Y, Tseng S, Wang R, Tsai F (2010) Pterygium and genetic polymorphisms of the DNA repair enzymes XRCC1, XPA, and XPD. Mol Vis 16:698–704PubMed

Clarkson SG, Wood RD (2005) Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal. DNA Repair (Amst) 4:1068–1074CrossRef

Colitz CM, Whittington A, Carter R, Warren J (2004) The effects of oxidative stress on telomerase activity and other stress-related proteins in lens epithelial cells. Exp Eye Res 78:235–242PubMedCrossRef

Collman GW, Shore DL, Shy CM (1988) Sunlight and other risk factors for cataracts: an epidemiologic study. Am J Public Health 78:1459–1462PubMedCrossRef

Duell EJ, Millikan RC, Pittman GS, Winkel S, Lunn RM, Tse CK (2001) Polymorphisms in the DNA repair gene XRCC1 and breast cancer. Cancer Epidemiol Biomarkers Prev 10:217–222PubMed

Fletcher AE (2010) Free radicals, antioxidants and eye diseases: evidence from epidemiological studies on cataract and age-related macular degeneration. Ophthalmic Res 44:191–198PubMedCrossRef

Friedberg EC, Walker GC, Siede W, Wood RD, Schultz RA, Ellenberger T (2006) DNA repair and mutagenesis. ASM Press, Washington, p 1118. ISBN 978–1555813192

Geng J, Zhang Q, Zhu C, Wang J, Chen L (2009) XRCC1 genetic polymorphism Arg399Gln and prostate cancer risk: a meta-analysis. Urology 74:648–653PubMedCrossRef

Görgün E, Güven M, Ünal M, Batar B, Güven GS, Yenerel M, Tatlipinar S, Seven F, Yüksel A (2010) Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degeneration. Invest Ophthalmol Vis Sci 51(09):4732–4737PubMedCrossRef

Gupta PD, Rajkumar S, Dave M, Vasavada AR (2006) Molecular genetics of human cataract. Asian J Exp Sci 29

Guven M, Unal M, Batar B, Eroglu E, Devaroglu K, Tamcelik N, Ucar D, Sarici A (2007) Polymorphisms of DNA repair genes XRCC1 and XPD and risk of primary open angle glaucoma (POAG). Mol Vis 13:12–17PubMed

Hsieh L, Chien H, Chen I, Liao C, Wang H, Jung SH, Wang P, Chang JT, Chen M, Cheng A (2003) The XRCC1 399Gln polymorphism and the frequency of p53 mutations in Taiwanese oral squamous cell carcinomas. Cancer Epidemiol Biomarker Prev 12:439

Kim S, Parkb SK, Yooa K, Yoonc K, Choia JY, Seod J, Parkd W, Kima J, Nohe D, Ahnf SH, Choee K, Stricklandg PT, Hirvonenh A, Kanga D (2002) XRCC1 genetic polymorphism and breast cancer risk. Pharmacogenetics 12:335–338PubMedCrossRef

Lei YC, Hwang SJ, Chang CC, Kuo HW, Luo JC, Chang MJ, Cheng TJ (2002) Effects on sister chromatid exchange frequency of polymorphisms in DNA repair gene XRCC1 in smokers. Mutat Res 519:93–101PubMedCrossRef

Lunn RM, Helzlsouer KJ, Parshad R, Umbach DM, Haris EL, Sanford KK, Bell DA (2000) XPD polymorphisms: effects on DNA repair proficiency. Carcinogenesis 21:551–555PubMedCrossRef

McCall MR, Frei B (1999) Can antioxidant vitamins materially reduce oxidative damage in humans? Free Radic Biol Med 26:1034–1053PubMedCrossRef

Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215PubMedCrossRef

Neale RE, Purdie JL, Hirst LW, Green AC (2003) Sun exposure as a risk factor for nuclear cataract. Epidemiology 14(6):707–712PubMedCrossRef

Ohia SE, Opere CA, Leday AM (2005) Pharmacological consequences of oxidative stress in ocular tissues. Mutat Res 579:22–36PubMedCrossRef

Padma G, Mamata M, Reddy RK, Padma T (2011) Polymorphisms in two DNA repair genes (XPD and XRCC1) – association with age related cataracts. Mol Vis 17:127–133PubMed

Pastor-Valero M, Fletcher AE, Stavola BL, Chaqués-Alepúz V (2007) Years of sunlight exposure and cataract: a case–control study in a Mediterranean population. BMC Ophthalmol 7:18PubMedCrossRef

Pendergrass W, Penn P, Possin D, Wolf N (2005) Accumulation of DNA, nuclear and mitochondrial debris, and ROS at sites of age-related cortical cataract in mice. Invest Ophthalmol Vis Sci 46:4661–4670PubMedCrossRef

Risa O, Saether O, Lofgren S, Soderberg PG, Krane J, Midelfart A (2004) Metabolic changes in rat lens after in vivo exposure to ultraviolet irradiation:measurements by high resolution MAS 1H NMR spectroscopy. Invest Ophthalmol Vis Sci 45:1916–1921PubMedCrossRef

Saadat M, Jahromi MF (2006) Occupational sunlight exposure, polymorphism of glutathione S-transferase M1, and senile cataract risk. Occup Environ Med 63(7):503–504PubMedCrossRef

Sasaki H, Lin LR, Yokoyama T, Sevilla MD, Reddy VN, Giblin FJ (1998) TEMPOL protects against lens DNA strand breaks and cataract in the X-rayed rabbit. Invest Ophthalmol Vis Sci 39:544–552PubMed

Shen MR, Jones IM, Mohrenweiser H (1998) Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 58:604–608PubMed

Shiels A, Bennett TM, Hejtmancik JF (2010) Cat-map: putting cataract on the map. Mol Vis 16:2007–2015PubMed

Sidjanin D, Zigman S, Reddan J (1993) DNA damage and repair in rabbit lens epithelial cells following UVA radiation. Curr Eye Res 12:773–781PubMedCrossRef

Spector A (1995) Oxidative stress-induced cataract: mechanism of action. FASEB J 9:1173–1182PubMed

Spitz MR, Wu X, Wang Y, Wang LE, Shete S, Amos CI, Guo Z, Lei L, Mohrenweiser H, Wei Q (2001) Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res 61:1354–1357PubMed

Taylor H (1980) The environment and the lens. Br J Ophthalmol 64:303–310PubMedCrossRef

Unal M, Güven M, Batar BO et al (2007) Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development. Exp Eye Res 85:328–334PubMedCrossRef

Varma SD, Chand D, Sharma YR, Kuck JF Jr, Richards RD (1984) Oxidative stress on lens and cataract formation: role of light and oxygen. Curr Eye Res 3(1):35–57PubMedCrossRef

Williams DL (2006) Oxidation, antioxidants and cataract formation: a literature review. Vet Ophthalmol 9(5):292–298PubMedCrossRef

Title: Polymorphisms of DNA repair genes and sun exposure as predisposing factors for age related cataract
Authors: Asmaa Ismail Ahmed
Mohammed Yasser Sayed Saif
Abeer Ahmed Zayed
Publication date: 01-12-2012
Publisher: Springer-Verlag
Published in: Comparative Clinical Pathology / Issue 6/2012
Print ISSN: 1618-5641
Electronic ISSN: 1618-565X
DOI: https://doi.org/10.1007/s00580-011-1290-8

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