Genetics and Genomics
This project aims to improve understanding of the causes of stillbirth by identifying genetic regions predisposing to stillbirth risk.
We will perform single variant genome-wide association testing of number of stillbirths in 245,000 women of European ancestry in UK Biobank. We will also perform exome-wide gene-burden analysis to identify rare coding variation associated with stillbirth risk. Together, these will identify genetic regions and genes which increase stillbirth risk. To replicate our findings and explore whether associations are maternal or fetal in origin, we will use non-European ancestry individuals in UK Biobank, and European and non-European ancestry individuals in the All of Us, ALSPAC, Born in Bradford, deCODE, and Millennium Cohort Studies. We will perform phenome-wide association analysis of replicated variants and genes, and gene-set enrichment analysis to identify biological pathways involved in risk of stillbirth. In addition, since fetal growth restriction is implicated in 2% of stillbirths, we will test whether variants and genes we have identified from our birth weight research together show more associations with stillbirth than expected by chance.
NIHR Exeter BRC.
Prof Rachel Freathy.
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