{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bigham AW"],"funding":["NICHD NIH HHS","FIC NIH HHS","NHGRI NIH HHS","PHS HHS"],"pagination":["687-97"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4166715"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["46(18)"],"pubmed_abstract":["Low birth weight and intrauterine growth restriction (IUGR) increase the risk of mortality and morbidity during the perinatal period as well as in adulthood. Environmental and genetic factors contribute to IUGR, but the influence of maternal genetic variation on birth weight is largely unknown. We implemented a gene-by-environment study wherein we utilized the growth restrictive effects of high altitude. Multigenerational high-altitude residents (Andeans) are protected from altitude-associated IUGR compared with recent migrants (Europeans). Using a combined cohort of low- and high-altitude European and Andean women, we tested 63 single nucleotide polymorphisms (SNPs) from 16 natural selection-nominated candidate gene regions for associations with infant birth weight. We identified signific"],"journal":["Physiological genomics"],"pubmed_title":["Maternal PRKAA1 and EDNRA genotypes are associated with birth weight, and PRKAA1 with uterine artery diameter and metabolic homeostasis at high altitude."],"pmcid":["PMC4166715"],"funding_grant_id":["5 K12 HD-057022-07","R01 HG002154","HG-002154","HLBI-079647","HLBI-060131","TW-001188","K12 HD057022"],"pubmed_authors":["Bigham AW","Shriver MD","Vargas E","Julian CG","Browne VA","Moore LG","Wilson MJ"],"additional_accession":[]},"is_claimable":false,"name":"Maternal PRKAA1 and EDNRA genotypes are associated with birth weight, and PRKAA1 with uterine artery diameter and metabolic homeostasis at high altitude.","description":"Low birth weight and intrauterine growth restriction (IUGR) increase the risk of mortality and morbidity during the perinatal period as well as in adulthood. Environmental and genetic factors contribute to IUGR, but the influence of maternal genetic variation on birth weight is largely unknown. We implemented a gene-by-environment study wherein we utilized the growth restrictive effects of high altitude. Multigenerational high-altitude residents (Andeans) are protected from altitude-associated IUGR compared with recent migrants (Europeans). Using a combined cohort of low- and high-altitude European and Andean women, we tested 63 single nucleotide polymorphisms (SNPs) from 16 natural selection-nominated candidate gene regions for associations with infant birth weight. We identified signific","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Sep","modification":"2026-04-07T16:33:34.571Z","creation":"2019-03-27T01:35:50Z"},"accession":"S-EPMC4166715","cross_references":{"pubmed":["25225183"],"doi":["10.1152/physiolgenomics.00063.2014"]}}