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.
QIMR Home Page
GenEpi Home Page
Publications
Contacts
Research
Staff Index
Collaborators
Software Tools
Computing Resources
Studies
Search
GenEpi Intranet
PMID
18650217
TITLE
Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis.
ABSTRACT
Vascular endothelial growth factor (VEGF) is an endothelial cell-specific angiogenic protein suspected to be involved in the pathogenesis of endometriosis by establishing a new blood supply to the human exfoliated endometrium. Several transcription factor-binding sites are found in the VEGF 5'-untranslated region and variation within the region increases the transcriptional activity. Six previous studies which tested between one and three single nucleotide polymorphisms (SNPs) in samples comprising 105-215 cases and 100-219 controls have produced conflicting evidence for association between the SNPs in the VEGF region and endometriosis. To further investigate the reported association between VEGF variants and endometriosis, we tested the four VEGF polymorphisms (-2578 A/C, rs699947; -460 T/C, rs833061; +405 G/C, rs2010963 and +936 C/T, rs3025039) in a large Australian sample of 958 familial endometriosis cases and 959 controls. We also conducted a literature-based review of all relevant association studies of these VEGF SNPs in endometriosis and performed a meta-analysis. There was no evidence for association between endometriosis and the VEGF polymorphisms genotyped in our study. Combined association results from a meta-analysis did not provide any evidence for either genotypic or allelic association with endometriosis. Our detailed review and meta-analysis of the VEGF polymorphisms suggests that genotyping assay problems may underlie the previously reported associations between VEGF variants and endometriosis.
DATE PUBLISHED
2008 Sep
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2008/07/23
pubmed 2008/07/25 09:00
medline 2008/12/31 09:00
entrez 2008/07/25 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Zhao ZZ Zhao Zhen Zhen ZZ Molecular Epidemiology, Queensland Institute of Medical Research, Brisbane, Queensland 4029, Australia. zhen.zhao@qimr.edu.au
Nyholt DR Nyholt Dale R DR
Thomas S Thomas Shane S
Treloar SA Treloar Susan A SA
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 14
ISSUE: 9
TITLE: Molecular human reproduction
ISOABBREVIATION: Mol. Hum. Reprod.
YEAR: 2008
MONTH: Sep
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1460-2407
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Mol Hum Reprod
COUNTRY: England
ISSNLINKING: 1360-9947
NLMUNIQUEID: 9513710
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
5' Untranslated Regions genetics
Alleles genetics
Australia genetics
Endometriosis pathology
Family Health pathology
Female pathology
Gene Frequency pathology
Genotype pathology
Haplotypes pathology
Humans pathology
Meta-Analysis as Topic pathology
Models, Genetic pathology
Polymorphism, Genetic pathology
Polymorphism, Single Nucleotide pathology
Review Literature as Topic pathology
Vascular Endothelial Growth Factor A genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 5' Untranslated Regions
0 Vascular Endothelial Growth Factor A
OTHER ID's