Journal Article

Genetic Variation in the Progesterone Receptor Gene and Ovarian Cancer Risk

Kathryn L. Terry, Immaculata De Vivo, Linda Titus-Ernstoff, Patrick M. Sluss and Daniel W. Cramer

in American Journal of Epidemiology

Published on behalf of Johns Hopkins Bloomberg School of Public Health

Volume 161, issue 5, pages 442-451
Published in print March 2005 | ISSN: 0002-9262
Published online March 2005 | e-ISSN: 1476-6256 | DOI:
Genetic Variation in the Progesterone Receptor Gene and Ovarian Cancer Risk

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Evidence suggests a role for progesterone in ovarian cancer development. Progesterone exerts its effect on target cells by interacting with its receptor. Thus, genetic variations that may cause alterations in the biologic functions of the progesterone receptor can potentially contribute to individual susceptibility to ovarian cancer. Using a population-based, case-control study, the authors genotyped four polymorphisms in the progesterone receptor gene (+44C/T, +331G/A, G393G, V660L) and inferred haplotypes in 987 ovarian cancer cases and 1,034 controls living in New Hampshire and eastern Massachusetts (May 1992–November 2002). Odds ratios and 95% confidence intervals were calculated to evaluate associations with ovarian cancer. No associations were observed between the +44C/T, +331G/A, and G393G polymorphisms and ovarian cancer. However, an inverse association was observed between the V660L variant and ovarian cancer (odds ratio = 0.70, 95% confidence interval: 0.57, 0.85). Associations remained after adjustment for potential confounders. Five haplotypes occurred with greater than 5% frequency, and the haplotype carrying the V660L variant had a significant association with ovarian cancer (odds ratio = 0.76, 95% confidence interval: 0.62, 0.92). Associations were similar after stratifying by ovarian cancer histologies and risk factors.

Keywords: haplotypes; ovarian neoplasms; polymorphism, single nucleotide; receptors, progesterone; CI, confidence interval; OR, odds ratio; rs, reference single nucleotide polymorphism; SNP, single nucleotide polymorphism.

Journal Article.  6401 words. 

Subjects: Public Health and Epidemiology

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