GWAS of 47 immune biomarkers in pregnancy identifies pregnancy-specific genetic regulation

A study published in PLOS Genetics by Merve Cakir, Michela Traglia, Stacey Alexeeff, and colleagues reports a genetic survey of 47 immune biomarkers measured at two timepoints during pregnancy — early and mid-gestation — along with change between timepoints.

Using SNP data from a pregnancy cohort, the authors estimated SNP-based heritability for each biomarker and conducted genome-wide association analyses. They identified significant heritability for 19 of the 47 biomarkers and genome-wide significant signals for 34. The study also examined the genetic basis of biomarker change across gestation (Δ), providing a dynamic view of immune regulation rather than a static snapshot.

The authors frame their findings as contributing to the understanding of pregnancy-specialised immune regulation — a poorly characterised domain in human genetics. The pregnancy immune environment involves substantial shifts in innate and adaptive immunity, and understanding the genetic architecture underlying these shifts has potential relevance for research into pregnancy complications, maternal autoimmune conditions, and conditions such as autism spectrum disorder, which several co-authors have previously studied in relation to maternal immune activation.

The cohort and contributing institutions include researchers from Kaiser Permanente Northern California, UC Davis, and the Stanley Medical Research Institute, among others. The paper is published open-access in PLOS Genetics.