The Genetic Basis of Preeclampsia in an Andean Population Adapted to High Altitude

To investigate the genetic basis of preeclampsia and its relationship to altitude, we characterized genetic diversity in a cohort of Andean families (N=883) from Puno, Peru, a high altitude city above 3,500 m. Our study collected genetic samples and medical records from case-control trios and duos, thus allowing for measurement of maternal, paternal and fetal genetic factors on preeclampsia risk. We generated high-density genotype data at over 400,000 positions across the genome, and used these data to determine ancestry patterns and map associations between genetic variants and preeclampsia phenotype. We also generated capture sequencing data from a subset of the study cohort focusing on genomic regions surrounding our top candidate hits.EGA study EGAS00001004625