Jack Fertility reposted this
Cecilia Lindgren and I are delighted to share the publication of a multi-year collaborative effort led at the University of Oxford Big Data Institute to understand the genetic basis of female and male infertility, now out in Nature Genetics Nature Portfolio. Give the article a read here - https://lnkd.in/ejVzP5AB - and let us know what you think! While infertility affects 1 in 6 couples worldwide, its cause remains unknown in up to 30% of cases. We worked with researchers from seven cohorts - UK Biobank, Genes & Health, Children of the 90s (ALSPAC), Estonian Biobank, deCODE genetics, Det Danske Bloddonorstudie and Copenhagen Hospital Biobank, and FinnGen - totalling over 1 million participants, to provide the first comprehensive overview of the genetic determinants of infertility. Here are some of our many takeaways: 1. We found 22 genetic variants for infertility in women, and 3 in men - many of which affect functions such as reproductive tract development and sperm motility. 2. Female infertility of unknown cause was highly associated with endometriosis (genetic correlation = 71%), leading us to wonder if undiagnosed endometriosis is responsible for many of these "unknown" cases. 3. Anovulatory female infertility (when an egg is not released as part of the menstrual cycle) shares three genetic variants with another common female reproductive health condition, polycystic ovary syndrome (PCOS). We also found negative correlation with dizygotic twinning (when two eggs are fertilised during the same cycle, leading to fraternal twins), suggesting treatments for this type of infertility could target ovulation rate. 4. We conducted genetic studies of reproductive hormones that affect fertility, such as luteinising hormone (which triggers egg and sperm production), oestradiol (the main oestrogen found in women), and testosterone. While we found nearly 300 genetic variants for these hormone levels, there wasn't much overlap with variants for infertility. This should be read carefully, as hormone levels can fluctuate over time and are difficult to capture in such large-scale studies. 5. And finally... if you're wondering how genetic variants for infertility are passed down over the generations, read the paper for a little snippet on a variant that may confer immune benefits while increasing the risk of infertility! Huge thanks to the Wellcome Trust and Gates Foundation, among many, many other funders supporting biobanks around the world and the 50+ authors on this paper. Laura Wittemans Duncan Palmer Nikolas Baya Teresa Ferreira Frederik Heymann Lassen Melody Parker Saskia Reibe Ahmed Elhakeem Minna Karjalainen Anu Pasanen Georgios Kalantzis Mette Nyegaard David van Heel Triin Laisk Cecilia Lindgren