RGD Reference Report - DNA repair gene XRCC1 Arg399Gln polymorphism is associated with increased risk of uterine leiomyoma. - Rat Genome Database

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DNA repair gene XRCC1 Arg399Gln polymorphism is associated with increased risk of uterine leiomyoma.

Authors: Jeon, YT  Kim, JW  Park, NH  Song, YS  Kang, SB  Lee, HP 
Citation: Jeon YT, etal., Hum Reprod. 2005 Jun;20(6):1586-9. Epub 2005 Mar 10.
RGD ID: 2302578
Pubmed: PMID:15760950   (View Abstract at PubMed)
DOI: DOI:10.1093/humrep/deh836   (Journal Full-text)

BACKGROUND: DNA repair gene XRCC1 Arg399Gln polymorphism has been associated with the risk of several human tumours. In the present study we investigated whether the XRCC1 polymorphism is related to the risk of uterine leiomyoma, the most common neoplasm of the female genital tract. METHODS: Three hundred and twenty-seven patients with uterine leiomyoma and 197 normal controls were enrolled, and XRCC1 genotyping was determined by PCR and restriction fragment length polymorphism. RESULTS: The proportions of individuals homozygous for 399Arg allele, heterozygous and homozygous for the 399Gln allele were 85.8%, 13.7% and 0.5% among the control group, and 46.2%, 53.2% and 0.6% in those with leiomyoma (P < 0.001), respectively. Logistic regression analysis (after adjusting for age, parity, menarche age and body mass index) showed a significant increased risk of uterine leiomyoma in women with the Arg/Gln genotype versus the Arg/Arg genotype (odds ratio 6.79; 95% confidence interval 4.20-10.99; P < 0.001). CONCLUSIONS: In Korean women, the 399Gln polymorphism of XRCC1 is associated with an increased risk of uterine leiomyoma.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
XRCC1Humanleiomyoma susceptibilityIAGP DNA:polymorphism: :p.R399QRGD 
Xrcc1Ratleiomyoma susceptibilityISOXRCC1 (Homo sapiens)DNA:polymorphism: :p.R399QRGD 
Xrcc1Mouseleiomyoma susceptibilityISOXRCC1 (Homo sapiens)DNA:polymorphism: :p.R399QRGD 

Objects Annotated

Genes (Rattus norvegicus)
Xrcc1  (X-ray repair cross complementing 1)

Genes (Mus musculus)
Xrcc1  (X-ray repair complementing defective repair in Chinese hamster cells 1)

Genes (Homo sapiens)
XRCC1  (X-ray repair cross complementing 1)


Additional Information