Genetic epidemiology of early growth and cardiometabolic diseases

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications, trials & patents

Abstract

The mechanisms underlying the links between early growth and later life cardiometabolic diseases, and why there are population differences in early growth and consequent cardiometabolic outcomes are not well understood. Insights into the biological pathways shared between phenotypes of early growth and adult cardiometabolic outcomes will facilitate development of interventions that benefit health across the life course. Ongoing studies aim to address the following research questions: Investigate genetic mechanisms in longitudinal fetal growth variations and the contribution of genetic ancestry for fetal growth differences among populations. This study is conducted using genome-wide genotype data generated from stored biospecimens collected by the NICHD Fetal Growth Studies, multi-ethnic study of fetal growth as well as other resources. We have published our findings that demonstrated population differences in the burden of fetal growth-related genetic loci and a rise in the influence of genetic factors on fetal growth across pregnancy. Genotyping has been completed and data analyses and write-up of additional papers are underway. Identify shared genetic pathways between birth weight and adult cardiometabolic outcomes, and understand the influence of maternal metabolic genetic factors on offspring birth outcomes. This study examines the extent of pleiotropy and enrichment of biologically functional loci using large-scale genome-wide association study genotype data contributed by several consortia as well as the database of Genotypes and Phenotypes (www.ncbi.nlm.nih.gov/gap). Evaluate the potential to obtain DNA of high quality from sources other than whole blood. The long-term goal of this project is to leverage existing large-scale population biobanks in future genetic-epidemiology studies of early growth-cardiometabolic links. A pilot study has been designed to evaluate whether stored serum can yield sufficient DNA that is usable for future genomic research using banked serum samples from the Collaborative Perinatal Project, a national pregnancy cohort of more than 48,000 women and their offspring enrolled between the years 1959 and 1966. Optimization and evaluation of DNA extraction methods is underway.