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Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development

Mustafa Unal1, Mehmet Güven, Bahadir Batar

  • 1Department of Ophthalmology, Akdeniz University Medical Faculty, Antalya, Turkey. mustafaunalmd@gmail.com

Experimental Eye Research
|July 20, 2007
PubMed

Insights

Genetic variations in the XPD DNA repair gene may influence cataract development. Specifically, the XPD-751 Gln/Gln genotype was less common in cataract patients, suggesting a protective role against this common eye condition.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Oxidative stress and UV radiation can cause DNA damage in the eye's lens epithelium, contributing to cataract formation.
  • Lens epithelial cells possess DNA repair mechanisms, but their efficiency can be influenced by genetic variations in DNA repair enzymes.

Purpose of the Study:

  • To investigate the frequency of specific polymorphisms in DNA repair enzyme genes, xeroderma pigmentosum complementation group D (XPD) codon 751 and X-ray cross-complementing group 1 (XRCC1) codon 399.
  • To determine if these polymorphisms are associated with the development of maturity-onset cataract in a Turkish population.

Main Methods:

  • Genotyping of 195 cataract patients and 194 healthy controls using Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP).
  • Analysis focused on XRCC1-Arg399Gln and XPD-Lys751Gln polymorphisms.
  • Stratification of cataract patients into cortical, nuclear, posterior subcapsular, and mixed types.

Main Results:

  • A significantly lower frequency of the XPD-751 Gln/Gln genotype was observed in cataract patients (12%) compared to controls (20%).
  • This protective association was particularly notable in cortical cataract patients.
  • The XPD-Lys751Gln C (Gln) allele frequency was also significantly different in mixed-type cataracts.

Conclusions:

  • Polymorphisms in the XPD codon 751 gene appear to be associated with the development of maturity-onset cataract.
  • No significant association was found between XRCC1 gene polymorphisms and cataract development in this cohort.
  • These findings highlight the potential role of XPD genetic variations in cataractogenesis.

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