Genetically predicted cytotrophoblast gene expression is associated with birth weight and adult body mass index.

Invasion of fetal placental cytotrophoblasts into the maternal endometrium affects fetal growth and birth weight, which are associated with metabolic disease risk later in life. We hypothesized that cytotrophoblast gene expression patterns are associated with birth weight and adult body mass index. To evaluate this hypothesis, we sequenced cytotrophoblast DNA and RNA from 44 placentas and trained a gene expression imputation model. We then performed transcriptome-wide association studies and found one gene associated with birth weight and 11 genes associated with adult body mass index. These findings highlight the significance of cytotrophoblasts in metabolic disease risk later in life.