RGD Reference Report - Polymorphisms of DNA repair genes OGG1 and XPD and the risk of age-related cataract in Egyptians. - Rat Genome Database

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Polymorphisms of DNA repair genes OGG1 and XPD and the risk of age-related cataract in Egyptians.

Authors: Gharib, AF  Dabour, SA  Etewa, RL  Fouad, RA 
Citation: Gharib AF, etal., Mol Vis. 2014 May 21;20:661-9. eCollection 2014.
RGD ID: 10401084
Pubmed: PMID:24868140   (View Abstract at PubMed)
PMCID: PMC4029483   (View Article at PubMed Central)

PURPOSE: To analyze the association of the polymorphisms of xeroderma pigmentosum complementation group D (XPD) and 8-oxoguanine glycosylase-1 (OGG1) genes with the risk of age-related cataract (ARC) in an Egyptian population. METHODS: This case-control study included 150 patients with ARC and 50 controls. Genotyping of XPD Asp(3)(1)(2)Asn was performed by amplification refractory mutation system PCR assay and genotyping of OGG1 Ser(3)(2)(6)Cys was carried out by PCR including confronting two-pair primers. RESULTS: The Asn/Asn genotype of XPD gene was significantly associated with increased risk of ARC (odds ratio [OR] = 2.74, 95% confidence interval [CI] = 1.01-7.43, p = 0.04) and cortical cataract (OR = 5.06, 95% CI = 1.70-15.05, p = 0.002). The Asn(3)(1)(2) allele was significantly associated with an increased risk of ARC (OR = 1.75, 95% CI 1.06-2.89, p = 0.03) and cortical cataract (OR = 2.81, 95% CI = 1.56-5.08, p<0.001). The OGG1 Cys/Cys genotype frequency was significantly higher in ARC (OR = 4.13, 95% CI = 0.93-18.21, p = 0.04) and the Cys((3)(2)(6) allele (OR = 1.85, 95% CI = 1.07-3.20, p = 0.03). Moreover, the Cys/Cys genotype of the OGG1 gene was significantly higher in cortical cataract (OR = 6.00, 95% CI = 1.24-28.99, p = 0.01) and the Cys(3)(2)(6) allele was also significantly associated with cortical cataract (OR = 2.45, 95% CI = 1.30-4.63, p = 0.005). CONCLUSIONS: The results suggest that the Asn/Asn genotype and Asn(3)(1)(2) allele of XPD polymorphism, as well as the Cys/Cys genotype and Cys(3)(2)(6) allele of the OGG1 polymorphism, may be associated with increased risk of the development of ARC, particularly the cortical type, in the Egyptian population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
senile cataract susceptibilityIAGP 10401084DNA:missense mutation:cds:p.D312N (human)RGD 
senile cataract susceptibilityISOERCC2 (Homo sapiens)10401084; 10401084DNA:missense mutation:cds:p.D312N (human)RGD 
senile cataract susceptibilityIAGP 10401084DNA:missense mutation:cds:p.S326C (human)RGD 
senile cataract susceptibilityISOOGG1 (Homo sapiens)10401084; 10401084DNA:missense mutation:cds:p.S326C (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormality of vision susceptibilityIAGP 10401084DNA:missense mutation:cds:p.D312NRGD 
Abnormality of vision susceptibilityIAGP 10401084DNA:missense mutation:cds:p.S326CRGD 
Age-related cataract susceptibilityIAGP 10401084DNA:missense mutation:cds:p.D312NRGD 
Age-related cataract susceptibilityIAGP 10401084DNA:missense mutation:cds:p.S326CRGD 
Objects Annotated

Genes (Rattus norvegicus)
Ercc2  (ERCC excision repair 2, TFIIH core complex helicase subunit)
Ogg1  (8-oxoguanine DNA glycosylase)

Genes (Mus musculus)
Ercc2  (excision repair cross-complementing rodent repair deficiency, complementation group 2)
Ogg1  (8-oxoguanine DNA-glycosylase 1)

Genes (Homo sapiens)
ERCC2  (ERCC excision repair 2, TFIIH core complex helicase subunit)
OGG1  (8-oxoguanine DNA glycosylase)


Additional Information