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Hum. Reprod. Advance Access originally published online on March 10, 2005
Human Reproduction 2005 20(6):1586-1589; doi:10.1093/humrep/deh836
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions{at}oupjournals.org

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

Yong-Tark Jeon1,2, Jae Weon Kim1,2,3,4, Noh-Hyun Park1,2, Yong-Sang Song1,2, Soon-Beom Kang1,2 and Hyo-Pyo Lee1,2

Departments of 1 Obstetrics and Gynecology, 2 Cancer Research Institute and 3 Human Genome Research Institute, College of Medicine, Seoul National University, Seoul, Korea

4 To whom correspondence should be addressed at: Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, 28 Yongun-Dong, Jongno-Gu, Seoul, 110-744, Korea. Email: kjwksh{at}snu.ac.kr

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.

Key words: DNA repair gene XRCC1/leiomyoma/neoplasm/polymorphism/uterus


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International Journal of ToxicologyHome page
N. A. Kocabas and B. Karahalil
XRCC1 Arg399Gln Genetic Polymorphism in a Turkish Population
International Journal of Toxicology, September 1, 2006; 25(5): 419 - 422.
[Abstract] [Full Text] [PDF]



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