Genetic polymorphism of hOGG1 and risk of pterygium in Chinese

H. C. Kau, C. C. Tsai, Wen-Ming Hsu, J. H. Liu, Y. H. Wie

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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.

Original languageEnglish
Pages (from-to)635-639
Number of pages5
JournalEye
Volume18
Issue number6
DOIs
Publication statusPublished - Jan 1 2004
Externally publishedYes

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Keywords

  • Genotype
  • hOGG1
  • Polymorphism
  • Pterygium

ASJC Scopus subject areas

  • Ophthalmology
  • Arts and Humanities(all)

Cite this

Kau, H. C., Tsai, C. C., Hsu, W-M., Liu, J. H., & Wie, Y. H. (2004). Genetic polymorphism of hOGG1 and risk of pterygium in Chinese. Eye, 18(6), 635-639. https://doi.org/10.1038/sj.eye.6700738