Abstract
Purpose Ultraviolet irradiation is known to cause oxidative DNA damage and is thought to be a major factor implicated in the pathogenesis of pterygium. The highly mutagenic 8-hydroxy-2′-deoxyguanosine, a marker for the evaluation of photo-oxidative DNA damage, can be repaired by human 8-oxoguanine glycosylase I (hOGG1). A transition of C to G at nucleotide position 1245 in exon 7 of the hOGG1 gene is associated with the substitution of cysteine for serine at codon 326. In this study, we investigated the association of the hOGG1 Ser326Cys polymorphism with pterygium in a Chinese population.
Methods In all, 70 patients and 86 controls were enrolled in this study. The Ser326Cys polymorphism was determined by the polymerase chain reaction-restriction fragment-length polymorphism analysis. The association between this genetic polymorphism and risk of pterygium was examined by χ2-test and logistic regression.
Results The allelic frequencies for the Ser and Cys variants of hOGG1 gene were not significantly different between the two groups. However, when compared with Ser/Ser and Ser/Cys genotypes combined, we found that the homozygous Cys/Cys genotype was more prevalent in pterygium patients than controls (P=0.024) with the odds ratio being 2.2 (95% CI: 1.1–4.5). In the pterygium group, the mean age of patients with the Cys/Cys genotype was younger than those with the other two genotypes (P=0.025).
Conclusions Our findings suggest that the 1245C → G transition in exon 7 of the hOGG1 gene, which results in Ser326Cys substitution of the enzyme, might play a role in the susceptibility of humans to pterygium.
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Acknowledgements
Supported by a grant (NSC 91-2320-B010-069) from the National Science Council, Taiwan. None of the authors have any commercial interest in the materials mentioned herein.
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Kau, HC., Tsai, CC., Hsu, WM. et al. Genetic polymorphism of hOGG1 and risk of pterygium in Chinese. Eye 18, 635–639 (2004). https://doi.org/10.1038/sj.eye.6700738
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DOI: https://doi.org/10.1038/sj.eye.6700738
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