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

Research output: Contribution to journalArticle

20 Citations (Scopus)

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

Fingerprint

Pterygium
Genetic Polymorphisms
Genotype
DNA Damage
Exons
Genes
Codon
Restriction Fragment Length Polymorphisms
Serine
Cysteine
Polymorphism
Nucleotides
Logistic Models
Odds Ratio
Gene
Polymerase Chain Reaction
Enzymes
Population
Damage
Substitution

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

Genetic polymorphism of hOGG1 and risk of pterygium in Chinese. / Kau, H. C.; Tsai, C. C.; Hsu, Wen-Ming; Liu, J. H.; Wie, Y. H.

In: Eye, Vol. 18, No. 6, 01.01.2004, p. 635-639.

Research output: Contribution to journalArticle

Kau, HC, Tsai, CC, Hsu, W-M, Liu, JH & Wie, YH 2004, 'Genetic polymorphism of hOGG1 and risk of pterygium in Chinese', Eye, vol. 18, no. 6, pp. 635-639. https://doi.org/10.1038/sj.eye.6700738
Kau, H. C. ; Tsai, C. C. ; Hsu, Wen-Ming ; Liu, J. H. ; Wie, Y. H. / Genetic polymorphism of hOGG1 and risk of pterygium in Chinese. In: Eye. 2004 ; Vol. 18, No. 6. pp. 635-639.
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AB - 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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