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Updated: May 8, 2026
09:30
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
The future for genetic studies in reproduction.
G W Montgomery1, K T Zondervan, D R Nyholt
1Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia.
Molecular Human Reproduction
|August 29, 2013
Summary
Genome-wide association studies (GWAS) have identified genetic factors influencing reproductive health and fertility. These genetic discoveries offer new pathways for understanding disease and developing targeted treatments.
Area of Science:
- Genetics
- Reproductive Biology
- Genomics
Background:
- Genetic factors play a significant role in common diseases affecting reproduction and fertility.
- Genome-wide association studies (GWAS) have become a powerful tool for discovering genes associated with complex traits and diseases.
Purpose of the Study:
- To review the impact of GWAS on understanding genetic contributions to reproductive health and fertility.
- To highlight the translational potential of GWAS findings in reproductive medicine.
Main Methods:
- The study summarizes findings from the Catalog of Published Genome-Wide Association Studies, focusing on reproductive traits.
- Analysis includes data on endometriosis, uterine fibroids, age at menarche, age at menopause, twinning rates, and infertility.
Main Results:
- Over 70 publications document GWAS results for 32 reproductive traits and diseases.
- Genetic variants identified through GWAS for reproductive traits are similar to those found for other common diseases.
- GWAS findings provide insights into biological pathways, disease subtypes, and comorbidities.
Conclusions:
- GWAS have revolutionized gene discovery for reproductive health, identifying key genetic variants and pathways.
- Translational value lies in discovering novel gene targets for biomarkers and drug development.
- Future large-scale studies with detailed phenotyping are crucial for advancing understanding of reproductive diseases and infertility.
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