Investigating the genetic basis of obstetrical diagnoses related to miscarriage and placental biology using genome-wide association study meta-analysis
Date
2023
Authors
Journal Title
Journal ISSN
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Publisher
Tartu Ülikool
Abstract
The triad of genetic, environmental and lifestyle factors contribute to adverse pregnancy
outcomes. While the recent work investigating maternal genetic susceptibility to miscarriage
has identified several genes involved in placental biology, the specific genetic risk factors of
pregnancy complications remain poorly understood. To elucidate the maternal genetic basis
of seven distinct obstetrical diagnoses related to miscarriage and placental biology, we
conduct a case-control genome-wide association study meta-analysis using population-based
data from the Estonian Biobank and the FinnGen study. We identify novel genomic risk loci
and propose the most likely associated genes for diagnoses “haemorrhage in early
pregnancy” and “premature rupture of membranes”. In addition, we estimate SNP-
heritability, provide evidence of shared genetic background between the studied traits, and
describe which other diagnoses are more common in women diagnosed with pregnancies
with abortive outcomes and placenta-associated pregnancy complications.
Description
Keywords
genome-wide association study, obstetrical diagnoses, miscarriage, placenta