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

Zhao, Zhen Zhen , Pollock, Pamela, Thomas, Shane , Treloar, Sue , Nyholt, Dale , & Montgomery, Grant (2008) Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk. Human Reproduction, 23(7), pp. 1661-1668.

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Abstract

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.

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4 citations in Web of Science®

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ID Code: 44315
Item Type: Journal Article
Keywords: endometriosis/fibroblast growth factor receptor 2/single nucleotide polymorphism/haplotype
DOI: 10.1093/humrep/den035
ISSN: 0268-1161
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > CLINICAL SCIENCES (110300)
Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > PAEDIATRICS AND REPRODUCTIVE MEDICINE (111400)
Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > PUBLIC HEALTH AND HEALTH SERVICES (111700)
Divisions: Past > QUT Faculties & Divisions > Faculty of Science and Technology
Deposited On: 25 Aug 2011 08:10
Last Modified: 01 Mar 2012 00:17

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