The future for genetic studies in reproduction

Montgomery, G.W., Zondervan, K.T., & Nyholt, D.R. (2014) The future for genetic studies in reproduction. Molecular Human Reproduction, 20(1), pp. 1-14.

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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 forcommontraits 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.

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ID Code: 84322
Item Type: Journal Article
Refereed: Yes
Keywords: Gene discovery, GWAS, Reproductive traits, Review, Translation, fatty acid synthase, fibronectin, minichromosome maintenance protein 8, monocarboxylate transporter 4, spacer DNA, breast cancer, chromatin structure, chromosome 2, chromosome 7, chromosome 9, Crohn disease, disease course, DNA sequence, drug repositioning, endometriosis, environmental factor, fertility, futurology, gene linkage disequilibrium, genetic association, genetic correlation, genetic marker, genetic variability, genotype, growth regulation, heredity, human, infertility, inflammatory bowel disease, menarche, menopause, meta analysis, priority journal, quantitative trait, reproduction, review, risk factor, RNA binding, sensitivity and specificity, systematic review, twin pregnancy, uterus myoma
DOI: 10.1093/molehr/gat058
ISSN: 1360-9947
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2013 The Author(s)
Copyright Statement: This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
3.0/), which permits unrestricted reuse,
distribution, and reproduction in any medium, provided the original work is properly cited.
Deposited On: 19 May 2015 03:54
Last Modified: 20 May 2015 01:21

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