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
23982303
TITLE
The future for genetic studies in reproduction.
ABSTRACT
Genetic factors contribute to risk of many common diseases affecting reproduction and fertility. In recent years, methods for genome-wide association studies (GWAS) have revolutionized gene discovery for common traits and diseases. Results of GWAS are documented in the Catalog of Published Genome-Wide Association Studies at the National Human Genome Research Institute and report over 70 publications for 32 traits and diseases associated with reproduction. These include endometriosis, uterine fibroids, age at menarche and age at menopause. Results that pass appropriate stringent levels of significance are generally well replicated in independent studies. Examples of genetic variation affecting twinning rate, infertility, endometriosis and age at menarche demonstrate that the spectrum of disease-related variants for reproductive traits is similar to most other common diseases. GWAS 'hits' provide novel insights into biological pathways and the translational value of these studies lies in discovery of novel gene targets for biomarkers, drug development and greater understanding of environmental factors contributing to disease risk. Results also show that genetic data can help define sub-types of disease and co-morbidity with other traits and diseases. To date, many studies on reproductive traits have used relatively small samples. Future genetic marker studies in large samples with detailed phenotypic and clinical information will yield new insights into disease risk, disease classification and co-morbidity for many diseases associated with reproduction and infertility.
DATE PUBLISHED
2014 Jan
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2013/08/26
aheadofprint 2013/09/07
entrez 2013/08/29 06:00
pubmed 2013/08/29 06:00
medline 2014/08/29 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Montgomery GW Montgomery G W GW Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia.
Zondervan KT Zondervan K T KT
Nyholt DR Nyholt D R DR
INVESTIGATORS
JOURNAL
VOLUME: 20
ISSUE: 1
TITLE: Molecular human reproduction
ISOABBREVIATION: Mol. Hum. Reprod.
YEAR: 2014
MONTH: Jan
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
Review
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
085235 Wellcome Trust United Kingdom
MR/K011480/1 Medical Research Council United Kingdom
WT085235/Z/08/Z Wellcome Trust United Kingdom
GENERAL NOTE
KEYWORDS
KEYWORD
GWAS
gene discovery
reproductive traits
review
translation
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Endometriosis genetics
Female genetics
Fertility genetics
Genetic Predisposition to Disease genetics
Genetic Variation genetics
Genome-Wide Association Study methods
Humans methods
Leiomyoma genetics
Menarche genetics
Menopause genetics
Polymorphism, Single Nucleotide genetics
Reproduction genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
PMC3867979 NLM