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Hum. Reprod. Advance Access published online on March 10, 2005
Human Reproduction, doi:10.1093/humrep/deh836
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Human Reproduction © European Society of Human Reproduction and Embryology 2005; all rights reserved
Received December 27, 2004
Revised February 6, 2005
Accepted February 10, 2005

Article

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

Yong-Tark Jeon 1, Jae Weon Kim 2*, Noh-Hyun Park 1, Yong-Sang Song 1, Soon-Beom Kang 1, and Hyo-Pyo Lee 1

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

* To whom correspondence should be addressed.
Jae Weon Kim, E-mail: kjwksh{at}snu.ac.kr


  Abstract

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.

Keywords: DNA repair gene XRCC1; leiomyoma; neoplasm; polymorphism; uterus.
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