Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.
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.
Zhao
Zhen Zhen
ZZ
Molecular Epidemiology Laboratory, Queensland Institute of Medical Research, 300 Herston RD, Herston, Brisbane, QLD 4029, Australia. zhen.zhao@qimr.edu.au
Pollock
Pamela M
PM
Thomas
Shane
S
Treloar
Susan A
SA
Nyholt
Dale R
DR
Montgomery
Grant W
GW
D004715:Endometriosis / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012306:Risk
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2