RGD Reference Report - Susceptibility of XPD and hOGG1 genetic variants to prostate cancer. - Rat Genome Database

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Susceptibility of XPD and hOGG1 genetic variants to prostate cancer.

Authors: Zhou, C  Xie, LP  Lin, YW  Yang, K  Mao, QQ  Cheng, Y 
Citation: Zhou C, etal., Biomed Rep. 2013 Jul;1(4):679-683. Epub 2013 May 30.
RGD ID: 8657136
Pubmed: PMID:24649009   (View Abstract at PubMed)
PMCID: PMC3917053   (View Article at PubMed Central)
DOI: DOI:10.3892/br.2013.123   (Journal Full-text)

DNA repair genes are important in maintaining genomic stability and integrity. DNA repair gene polymorphisms, such as those of the human homolog of 8-oxoguanine DNA glycosylase 1 (hOGG1) and excision repair cross-complementing rodent repair deficiency, complementation group 2/Xeroderma pigmentosum complementation group D (ERCC2/XPD), contribute to carcinogenesis. The aim of this study was to investigate the association of prostate cancer (PCa) risk with hOGG1 and ERCC2/XPD genetic variants. A case-control study of 200 cases including 100 PCa patients and 100 healthy subjects was conducted. Two single-nucleotide polymorphisms (SNPs) (ERCC2/XPD Arg156Arg and hOGG1 Ser326Cys) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results demonstrated a significant association of the XPD156 homozygous (AA, OR=3.80; 95% CI: 1.19-12.18; P=0.017), heterozygous (AC, OR=2.48; 95% CI: 1.02-6.35; P=0.033) and combined (AA+AC, OR=2.76; 95% CI: 1.18-6.84; P=0.011) mutant genotypes with a predisposition to high-risk PCa. In the stratified analysis, predisposition to high-risk PCa was also associated with the mutant genotypes of hOGG1 326 homozygous mutant (GG, OR=2.93; 95% CI: 1-8.74; P=0.033). The results also showed that the A allele of XPD Arg156Arg and the G allele of hOGG1 Ser326Cys were associated with an increased risk of PCa (OR=1.86 and 1.62; 95% CI: 1.13-3.06 and 1-2.67, respectively). In conclusion, the findings of this study demonstrated that the ERCC2/XPD Arg156Arg and hOGG1 Ser326Cys polymorphisms increased the susceptibility to high-risk PCa.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
prostate cancer susceptibilityIAGP 8657136DNA:polymorphism:exon:p.R156R(human)RGD 
prostate cancer susceptibilityISOERCC2 (Homo sapiens)8657136; 8657136DNA:polymorphism:exon:p.R156R(human)RGD 
prostate cancer susceptibilityIAGP 8657136DNA:missense mutation:cds:p.S326C (human)RGD 
prostate cancer susceptibilityISOOGG1 (Homo sapiens)8657136; 8657136DNA:missense mutation:cds:p.S326C (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Elevated prostate-specific antigen level susceptibilityIAGP 8657136DNA:missense mutation:cds:p.S326CRGD 
Prostate cancer susceptibilityIAGP 8657136DNA:missense mutation:cds:p.S326C RGD 
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