Abstract: Genome-wide association studies (GWASs) may help inform treatments for infertility, which is a common, complex condition with an unknown cause in many cases. We performed GWAS meta-analyses across six cohorts for male and female infertility (in up to 41,200 cases and 687,005 controls) as well as sex-specific reproductive hormones to identify 21 genetic risk loci for infertility and over 269 loci for hormone levels. We also performed exome sequencing analyses in the UK Biobank to query rare variant contributions to infertility and reproductive hormone levels. We assessed evidence for overlap between the genetic architecture of infertility and hormones using a variety of statistical tools. We also examined the overlap between the genetic basis of female infertility and other reproductive conditions, such as endometriosis and polycystic ovary syndrome. Finally, we conducted evolutionary selection analyses to understand how infertility risk-increasing alleles persist in the population. Our results indicate that while individual genes associated with hormonal dysregulation may be relevant for fertility, there is limited genetic evidence for correlation between reproductive hormones and infertility at the population level. In this talk, I will provide a comprehensive view of the genetic architecture of infertility across multiple diagnostic criteria in men and women, and characterise its relationship to other health conditions.
Bio: Samvida has recently completed her DPhil in Genomic Medicine and Statistics at the University of Oxford, under the supervision of Prof Cecilia Lindgren and Prof Chris Holmes. During her DPhil, she leveraged the longitudinal primary care records associated with the UK Biobank to study the genetic basis of metabolic and endocrine disease. Samvida will soon begin a postdoctoral position as a Schmidt AI in Science fellow in the labs of Prof Jim Hughes and Prof Chris Holmes.
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As a reminder, the (gen)omics seminar series runs every other Tuesday morning and is intended to increase interaction between individuals working in genomics across Oxford. We encourage in-person attendance where possible. There is time for discussion over tea, coffee and pastries after the talks.
Hybrid option:
Please note, these meetings are closed meetings and only open to members of the University of Oxford to encourage sharing of new and unpublished data. Please respect our speakers and do not share the link with anyone outside of the university. The aim of these seminars is to increase interaction between people working in Genomics across the University so we encourage in person attendance wherever possible.
Please contact sumeeta.maheshwari@ndph.ox.ac.uk for Teams meeting link
