Lessons from Genome-Wide Association Studies in Reproductive Medicine

Joop S. E. Laven, MD, PhD

Although the genetic origin of human disease has been recognized for quite some time, identification of the causative genes was limited, slow, and cumbersome. This changed after the introduction of genome-wide association studies (GWAS). Fueled by several human genome reference projects along with the development of novel high-throughput systems, these studies generated large datasets in several international consortia. In the latter GWAS, data were combined with existing, large epidemiological studies and provided many new insights in the genetic background of several generally occurring traits as well as in different communicable diseases. GWASs have over flooded many clinical and basic research areas with gene discoveries, including those in reproductive medicine. It also led to the establishment of large-scale collaborations within international consortia, leading to high quality as well as high-impact publications. This special issue of Seminars in Reproductive Medicine tries to summarize recent GWAS findings and tries to dissect out how these new genetic data might impact on our daily practice in reproductive medicine.