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Hum. Reprod. Advance Access originally published online on February 18, 2008
Human Reproduction 2008 23(7):1661-1668; doi:10.1093/humrep/den035
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© The Author 2008. 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@oxfordjournals.org

Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk

Zhen Zhen Zhao1,4, Pamela M. Pollock2, Shane Thomas1, Susan A. Treloar1, Dale R. Nyholt3 and Grant W. Montgomery1

1 Molecular Epidemiology Laboratory, Queensland Institute of Medical Research, 300 Herston RD, Herston, Brisbane, QLD 4029, Australia 2 Cancer and Cell Biology Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA 3 Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia

4 Correspondence address. E-mail: zhen.zhao{at}qimr.edu.au

BACKGROUND: Endometriosis is a polygenic disease with a complex and multifactorial aetiology that affects 8–10% of women of reproductive age. Epidemiological data support a link between endometriosis and cancers of the reproductive tract. Fibroblast growth factor receptor 2 (FGFR2) has recently been implicated in both endometrial and breast cancer. Our previous studies on endometriosis identified significant linkage to a novel susceptibility locus on chromosome 10q26 and the FGFR2 gene maps within this linkage region. We therefore hypothesized that variation in FGFR2 may contribute to the risk of endometriosis.

METHODS: We genotyped 13 single nucleotide polymorphisms (SNPs) densely covering a 27 kb region within intron 2 of FGFR2 including two SNPs (rs2981582 and rs1219648) significantly associated with breast cancer and a total 40 tagSNPs across 150 kb of the FGFR2 gene. SNPs were genotyped in 958 endometriosis cases and 959 unrelated controls.

RESULTS: We found no evidence for association between endometriosis and FGFR2 intron 2 SNPs or SNP haplotypes and no evidence for association between endometriosis and variation across the FGFR2 gene.

CONCLUSIONS: Common variation in the breast-cancer implicated intron 2 and other highly plausible causative candidate regions of FGFR2 do not appear to be a major contributor to endometriosis susceptibility in our large Australian sample.

Key words: endometriosis/fibroblast growth factor receptor 2/single nucleotide polymorphism/haplotype

Submitted on November 19, 2007; resubmitted on December 21, 2007; accepted on January 23, 2008.


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