The future for genetic studies in reproduction

Montgomery, G. W., Zondervan, K. T. and Nyholt, D. R. (2014) The future for genetic studies in reproduction. Molecular Human Reproduction, 20 1: 1-14. doi:10.1093/molehr/gat058

Author Montgomery, G. W.
Zondervan, K. T.
Nyholt, D. R.
Title The future for genetic studies in reproduction
Journal name Molecular Human Reproduction   Check publisher's open access policy
ISSN 1360-9947
Publication date 2014-01
Year available 2013
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1093/molehr/gat058
Open Access Status DOI
Volume 20
Issue 1
Start page 1
End page 14
Total pages 14
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Collection year 2014
Language eng
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.
Keyword Reproductive traits
Gene discovery
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ
Additional Notes Published online: 26 August 2013.

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Non HERDC
Queensland Brain Institute Publications
Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 12 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 13 times in Scopus Article | Citations
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