ArticlePhysiological genomics2014
Maternal PRKAA1 and EDNRA genotypes are associated with birth weight, and PRKAA1 with uterine artery diameter and metabolic homeostasis at high altitude.
Article in Physiological genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.
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Who cites it
79 citing papers in PubMed, 113 citations in OpenAlex.
- Understanding physiological adaptations of pregnancy to the chronic hypoxia of high altitude to inform obstetrical and neonatal care.Physiological reviews · 2026Review
- Understanding pre-eclampsia and fetal growth restriction at high altitude: A narrative review.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Review
- Dysregulated Fatty Acid Metabolism in Preeclampsia Among Highland Andeans: Insights Into Adaptive and Maladaptive Placental Metabolic Phenotypes.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- AMPK: Accumulating Evidence in Support of its role in Dual Regulation of Vascular Function and Metabolism During Human Pregnancy.Acta physiologica (Oxford, England) · 2025Review
- AMPK function in uterine vasculature and placenta at high altitude.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- The uteroplacental circulation at high altitude: adaptation and maladaptation.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Beyond blood flow: the multifaceted role of AMPK in regulating fetal growth at high altitudes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Genetic adaptations shaping survival, pregnancy, and life at high altitude and sea level.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- High-altitude pregnancy adaptation: evidence from a Himalayan population in Leh.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Fetal growth and congenital heart disease at high altitude.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- AdaptiveiScience · 2025Article
- Impact of Moderate Altitude on Birth Weight and Neonatal Growth Percentiles: A Comparative Analysis of Risk-Free Term Pregnancies from Türkiye.Turkish archives of pediatrics · 2025Article
- Comparative transcriptomics of iPSC-derived cardiomyocytes in a high and a low altitude population.bioRxiv : the preprint server for biology · 2025Article
- Chromosome-level genome of Neodon fuscus sheds light on the evolution and plateau adaptation of N. fuscus and Neodon.BMC genomics · 2025Article
- Placental Adaptation to Hypoxia: The Case of High-Altitude Pregnancies.International journal of environmental research and public health · 2025Review
- Impaired maternal central hemodynamics precede the onset of vascular disorders of pregnancy at high altitude.American journal of physiology. Heart and circulatory physiology · 2025Article
- Surviving birth at high altitude.The Journal of physiology · 2024Review
- Physiological and Genetic Basis of High-Altitude Indigenous Animals' Adaptation to Hypoxic Environments.Animals : an open access journal from MDPI · 2024Review
- Maternal AMPK pathway activation with uterine artery blood flow and fetal growth maintenance during hypoxia.American journal of physiology. Heart and circulatory physiology · 2024Article
- Article
19 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
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 significant SNP associations with birth weight near coding regions for two genes involved in oxygen sensing and vascular control, PRKAA1 and EDNRA, respectively. Next, we identified a significant association for the PRKAA1 SNP with an intermediate phenotype, uterine artery diameter, which has been shown to be related to Andean protection from altitude-associated reductions in fetal growth. To explore potential functional relationships for the effect of maternal SNP genotype on birth weight, we evaluated the relationship between maternal PRKAA1 SNP genotype and gene expression patterns in general and, in particular, of key pathways involved in metabolic homeostasis that have been proposed to play a role in the pathophysiology of IUGR. Our observations suggest that maternal genetic variation within genes that regulate oxygen sensing, metabolic homeostasis, and vascular control influence fetal growth and birth weight outcomes and hence Andean adaptation to high altitude.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.