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      Polymorphisms in two DNA repair genes ( XPD and XRCC1) – association with age related cataracts

      research-article
      Author(s): 1 , 1 , 2 , 1 ,
      Publication date (Electronic):
      Journal: Molecular Vision
      Publisher: Molecular Vision

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          Abstract

          Purpose

          Age related cataract is the leading cause of blindness in the world today. The association between DNA damage to the lens epithelium and the development of lens opacities has been reported in many studies. Polymorphisms of DNA repair enzymes may affect repair efficiency and thereby lead to the development of age related cataract.

          Methods

          In this study, we aimed to determine the frequency of polymorphisms in two DNA repair enzyme genes, xeroderma pigmentosum complementation group ( XPD) codon 312 and X-ray complementing group1 ( XRCC1) codon 399, in a sample of 208 cataract patients (69 with cortical, 69 with nuclear and 70 with posterior sub capsular) and 151 sex and age matched healthy controls. XPD genotype was determined by Amplification Refractory Mutation System (ARMS) while XRCC1 was genotyped using the PCR-RFLP method.

          Results

          There was a significant difference between frequencies for XPD-312 Asn/Asn genotype in cataract patients (21.6%) and healthy controls (13.2%; p=0.03, OR=1.97, 95% CI=1.06–3.63). Considering the types of cataract, XPD-312 Asn/Asn genotype was found to be significantly different in patients with cortical (29%) type in comparison to controls (13.2%; p=0.03, OR=2.39, 95% CI=1.11–5.12). No statistically significant difference was found for the genotypic and allelic distributions of the polymorphism in XRCC1. The MDR interaction analysis revealed weak synergism between the markers XPD-Asp312Asn and XRCC1-Arg399Gln contributing to cataract. It also showed that the AA genotype of XPD-Asp312Asn polymorphism when present in combination with the GA genotype of XRCC1-Arg399Gln had a fivefold and with AA had a fourfold risk for developing cataract.

          Conclusions

          The present study suggests that a polymorphism in XPD codon 312 may be associated with the development of maturity onset cataract. This is the first report on the association of XPD Asp312Asn polymorphism with maturity onset cataract.

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          Most cited references29

          • Record: found
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          A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies.

          D K Lahiri, J I Nurnberger (1991)
          Article 0 comments Cited 201 times – based on 0 reviews     Review now
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            Oxidative stress-induced cataract: mechanism of action.

            Stephen A. Spector (1995)
            This review examines the hypothesis that oxidative stress is an initiating factor for the development of maturity onset cataract and describes the events leading to lens opacification. Data are reviewed that indicate that extensive oxidation of lens protein and lipid is associated with human cataract found in older individuals whereas little oxidation (and only in membrane components) is found in control subjects of similar age. A significant proportion of lenses and aqueous humor taken from cataract patients have elevated H2O2 levels. Because H2O2, at concentrations found in cataract, can cause lens opacification and produces a pattern of oxidation similar to that found in cataract, it is concluded that H2O2 is the major oxidant involved in cataract formation. This viewpoint is further supported by experiments showing that cataract formation in organ culture caused by photochemically generated superoxide radical, H2O2, and hydroxyl radical is completely prevented by the addition of a GSH peroxidase mimic. The damage caused by oxidative stress does not appear to be reversible and there is an inverse relationship between the stress period and the time required for loss of transparency and degeneration of biochemical parameters such as ATP, GPD, nonprotein thiol, and hydration. After exposure to oxidative stress, the redox set point of the single layer of the lens epithelial cells (but not the remainder of the lens) quickly changes, going from a strongly reducing to an oxidizing environment. Almost concurrent with this change is extensive damage to DNA and membrane pump systems, followed by loss of epithelial cell viability and death by necrotic and apoptotic mechanisms. The data suggest that the epithelial cell layer is the initial site of attack by oxidative stress and that involvement of the lens fibers follows, leading to cortical cataract.
            Article 0 comments Cited 155 times – based on 0 reviews     Review now
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              Age-related cataract.

              Penny Asbell, Ivo Dualan, Joel Mindel … (2005)
              Cataract, opacification of the lens, is one of the commonest causes of loss of useful vision, with an estimated 16 million people worldwide affected. Several risk factors have been identified in addition to increasing age--genetic composition, exposure to ultraviolet light, and diabetes. However, no method to halt the formation of a cataractous lens has been shown to be effective. Nevertheless, advances in surgical removal of cataracts, including small-incision surgery, use of viscoelastics, and the development of intraocular lenses, have made treatment very effective and visual recovery rapid in most cases. Despite these advances, cataract continues to be a leading public-health issue that will grow in importance as the population increases and life expectancy is extended worldwide.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Mol Vis
                Journal ID (publisher-id): MV
                Title: Molecular Vision
                Publisher: Molecular Vision
                ISSN (Electronic): 1090-0535
                Publication date Collection: 2011
                Publication date (Electronic): 12 January 2011
                Volume: 17
                Pages: 127-133
                Affiliations
                [1 ]Department of Genetics, Osmania University, Tarnaka, Hyderabad, A.P, India
                [2 ]Sarojini Devi Eye Hospital and Institute of Ophthalmology, Hyderabad, A.P, India
                Author notes
                Correspondence to: T. Padma, Department of Genetics, Osmania University, Tarnaka, Hyderabad-500007, India; Phone: 91-09866229810; email: padmatirunilai@ 123456gmail.com
                Article
                Publisher ID: 16 Publisher ID: 2010MOLVIS0399
                PMC ID: 3021570
                PubMed ID: 21245954
                SO-VID: 7fe38f0d-eed0-4fee-bc51-bd8a55d9af95
                Copyright © Copyright © 2011 Molecular Vision.
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 17 September 2010
                Date accepted : 06 January 2011
                Categories
                Subject: Research Article
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                corr-author Padma

                ScienceOpen disciplines: Vision sciences
                Data availability:
                ScienceOpen disciplines: Vision sciences

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