Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
18285324
TITLE
Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.
ABSTRACT
BACKGROUND NlmCategory: 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 NlmCategory: 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 NlmCategory: 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 NlmCategory: 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.
DATE PUBLISHED
2008 Jul
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2008/02/18
aheadofprint 2008/02/26
pubmed 2008/02/21 09:00
medline 2008/07/23 09:00
entrez 2008/02/21 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Zhao ZZ 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 PM Pollock Pamela M PM
Thomas S Thomas Shane S
Treloar SA Treloar Susan A SA
Nyholt DR Nyholt Dale R DR
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 23
ISSUE: 7
TITLE: Human reproduction (Oxford, England)
ISOABBREVIATION: Hum. Reprod.
YEAR: 2008
MONTH: Jul
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1460-2350
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Reprod
COUNTRY: England
ISSNLINKING: 0268-1161
NLMUNIQUEID: 8701199
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
R01 HD050537-02 NICHD NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Endometriosis genetics
Female genetics
Genetic Variation genetics
Humans genetics
Linkage Disequilibrium genetics
Polymorphism, Single Nucleotide genetics
Receptor, Fibroblast Growth Factor, Type 2 genetics
Risk genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
EC 2.7.10.1 FGFR2 protein, human
EC 2.7.10.1 Receptor, Fibroblast Growth Factor, Type 2
OTHER ID's
OTHERID SOURCE
PMC2902840 NLM
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