Genetic Variants Influence on the Placenta Regulatory Landscape

This study of the regulatory landscape of the placenta relies on the identification of associations between genetic variant and gene expression changes (eQTLs); genetic variant and DNA methylation changes (mQTLs); and, gene expression change and DNA methylation change (eQTMs). It involves the analysis of DNA sequence variation (n=303), DNA methylation (n=303) and mRNA expression data (n=80) from placentas from healthy women. Such studies are crucial to fully apprehend the complexity of the regulatory landscape and to support further analysis focusing and disease driven phenotype.]]> Subjects and samples were identified from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Fetal Growth Study, which was a prospective, multicentered, observational study including 3,000 pregnant women. Healthy, non-obese, low risk pregnant women across four race/ethnicity groups, who conceived spontaneously and had no obvious risk factors for fetal growth restriction or overgrowth were eligible for inclusion in the study. Specifically, self-identified non-Hispanic white, African-American, Hispanic, and Asian/Pacific Islander women with a singleton pregnancy less than 13 weeks and 6 days of gestation were enrolled. All women were between 18 and 40 years old with BMI between 19.0 to 29.9kg/m2 with no confirmed or suspected fetal congenital structural or chromosomal anomalies. Multiple exclusions were identified to assure a low risk population and included but was not limited to, cigarette smoking in the past six months, use of illicit drugs in the past year, consumption of at least 1 alcoholic drink per day, chronic hypertension, diabetes mellitus, HIV or AIDS, and history of gestational diabetes in a prior pregnancy. To assure correct dating, all pregnancies had first trimester ultrasound screening consistent with gestational age. Placentas were collected from pregnancies with a predicted birthweight by ultrasound between the 10th and the 90th percentile.]]>