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
18535005
TITLE
The search for genes contributing to endometriosis risk.
ABSTRACT
BACKGROUND NlmCategory: BACKGROUND
Genetic variation contributes to the risk of developing endometriosis. This review summarizes gene mapping studies in endometriosis and the prospects of finding gene pathways contributing to disease using the latest genome-wide strategies.
METHODS NlmCategory: METHODS
To identify candidate-gene association studies of endometriosis, a systematic literature search was conducted in PubMed of publications up to 1 April 2008, using the search terms 'endometriosis' plus 'allele' or 'polymorphism' or 'gene'. Papers included were those with information on both case and control selection, showed allelic and/or genotypic results for named germ-line polymorphisms and were published in the English language.
RESULTS NlmCategory: RESULTS
Genetic variants in 76 genes have been examined for association, but none shows convincing evidence of replication in multiple studies. There is evidence for genetic linkage to chromosomes 7 and 10, but the genes (or variants) in these regions contributing to disease risk have yet to be identified. Genome-wide association is a powerful method that has been successful in locating genetic variants contributing to a range of common diseases. Several groups are planning these studies in endometriosis. For this to be successful, the endometriosis research community must work together to genotype sufficient cases, using clearly defined disease classifications, and conduct the necessary replication studies in several thousands of cases and controls.
CONCLUSIONS NlmCategory: CONCLUSIONS
Genes with convincing evidence for association with endometriosis are likely to be identified in large genome-wide studies. This will provide a starting point for functional and biological studies to develop better diagnosis and treatment for this debilitating disease.
DATE PUBLISHED
2008 Sep-Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2008/06/05
pubmed 2008/06/07 09:00
medline 2008/11/06 09:00
entrez 2008/06/07 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Montgomery GW Montgomery Grant W GW Genetic and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Royal Brisbane Hospital, 300 Herston Road, Brisbane, QLD 4029, Australia. grant.montgomery@qimr.edu.au
Nyholt DR Nyholt Dale R DR
Zhao ZZ Zhao Zhen Zhen ZZ
Treloar SA Treloar Susan A SA
Painter JN Painter Jodie N JN
Missmer SA Missmer Stacey A SA
Kennedy SH Kennedy Stephen H SH
Zondervan KT Zondervan Krina T KT
INVESTIGATORS
JOURNAL
VOLUME: 14
ISSUE: 5
TITLE: Human reproduction update
ISOABBREVIATION: Hum. Reprod. Update
YEAR:
MONTH:
DAY:
MEDLINEDATE: 2008 Sep-Oct
SEASON:
CITEDMEDIUM: Internet
ISSN: 1460-2369
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Reprod Update
COUNTRY: England
ISSNLINKING: 1355-4786
NLMUNIQUEID: 9507614
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
HD050537 NICHD NIH HHS United States
R01 HD050537-02 NICHD NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Case-Control Studies
Chromosome Mapping
Chromosomes, Human, Pair 10
Endometriosis genetics
Female genetics
Genetic Linkage genetics
Genetic Predisposition to Disease genetics
Genome, Human genetics
Genomics methods
Humans methods
Polymorphism, Genetic methods
Risk Factors methods
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
NIHMS64936 NLM
PMC2574950 NLM