# Integrating genomic studies of gestational duration and birth weight to understand maternal and fetal causes of adverse pregnancy outcomes and links with later diseases

> **NIH NIH R01** · CINCINNATI CHILDRENS HOSP MED CTR · 2024 · $465,743

## Abstract

Project Summary/Abstract
Gestational duration and birth weight are primary indicators of pregnancy outcomes. They are associated with
perinatal morbidity and mortality and also with childhood and adult disorders. In the past several years, we have
made substantial progress in the genomic research of gestational duration and birth weight. First, we conducted
large-scale genome-wide association (GWA) studies and identified six maternal genomic loci associated with
gestational duration, and 190 maternal or fetal loci associated with birth weight. Second, we developed statistical
methods to dissect the maternal and fetal genetic effects on birth outcomes. Third, we have studied the causal
relationships between maternal phenotypes and birth outcomes as well as the life course associations between
birth outcomes and late onset disorders. Despite these successes, there is a major gap in previous genomic
studies – they usually targeted either gestational duration or birth weight separately albeit these two birth
outcomes are statistically correlated and biologically related. To bridge this gap, we – the leading investigators
who previously focused on either gestational duration or birth weight separately – have committed to work
together and integrate the genomic research of gestational duration or birth weight. We propose a novel statistical
approach to jointly model the maternal and fetal genetic effects on gestational duration and fetal growth.
Specifically, we will 1) use birth weight as a surrogate for gestational duration and leverage UK Biobank birth
weight data for more powerful GWA discoveries of genomic loci associated with gestational duration; 2)
disentangle and replicate maternal and fetal effects by integrated genomic analysis in mother/infant duos; and
3) integrate genomics and phenomics to resolve the complexity of birth outcomes and their links with late onset
diseases. These cohesive study aims transcend conventional GWA studies and the results generated from this
study will increase our knowledge of the biology of human birth timing and fetal growth. This study also has the
potential to inform preventative and therapeutic measures for preterm birth and adverse pregnancy outcomes.

## Key facts

- **NIH application ID:** 10825442
- **Project number:** 5R01HD101669-04
- **Recipient organization:** CINCINNATI CHILDRENS HOSP MED CTR
- **Principal Investigator:** Rachel Freathy
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $465,743
- **Award type:** 5
- **Project period:** 2021-05-01 → 2026-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10825442

## Citation

> US National Institutes of Health, RePORTER application 10825442, Integrating genomic studies of gestational duration and birth weight to understand maternal and fetal causes of adverse pregnancy outcomes and links with later diseases (5R01HD101669-04). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10825442. Licensed CC0.

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