RGD Reference Report - Genetic polymorphism of hOGG1 and risk of pterygium in Chinese. - Rat Genome Database

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Genetic polymorphism of hOGG1 and risk of pterygium in Chinese.

Authors: Kau, HC  Tsai, CC  Hsu, WM  Liu, JH  Wei, YH 
Citation: Kau HC, etal., Eye (Lond). 2004 Jun;18(6):635-9.
RGD ID: 8657375
Pubmed: PMID:14716324   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.eye.6700738   (Journal Full-text)

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 chi(2)-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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pterygium susceptibilityIAGP 8657375DNA:missense mutation:exon:p.S326C (1245C>G and rs1052133) (human)RGD 
pterygium susceptibilityISOOGG1 (Homo sapiens)8657375; 8657375DNA:missense mutation:exon:p.S326C (1245C>G and rs1052133) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal conjunctiva morphology susceptibilityIAGP 8657375DNA:missense mutation:exon:p.S326C (1245C>G and rs1052133)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ogg1  (8-oxoguanine DNA glycosylase)

Genes (Mus musculus)
Ogg1  (8-oxoguanine DNA-glycosylase 1)

Genes (Homo sapiens)
OGG1  (8-oxoguanine DNA glycosylase)


Additional Information