RGD Reference Report - Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk. - Rat Genome Database

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

Authors: Zhao, ZZ  Pollock, PM  Thomas, S  Treloar, SA  Nyholt, DR  Montgomery, GW 
Citation: Zhao ZZ, etal., Hum Reprod. 2008 Jul;23(7):1661-8. Epub 2008 Feb 18.
RGD ID: 2301190
Pubmed: PMID:18285324   (View Abstract at PubMed)
PMCID: PMC2902840   (View Article at PubMed Central)
DOI: DOI:10.1093/humrep/den035   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
endometriosis no_associationIAGP 2301190DNA:SNPsRGD 
endometriosis no_associationISOFGFR2 (Homo sapiens)2301190; 2301190DNA:SNPsRGD 

Objects Annotated

Genes (Rattus norvegicus)
Fgfr2  (fibroblast growth factor receptor 2)

Genes (Mus musculus)
Fgfr2  (fibroblast growth factor receptor 2)

Genes (Homo sapiens)
FGFR2  (fibroblast growth factor receptor 2)


Additional Information