ArticleAmerican journal of human genetics2022
Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes.
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- Understanding physiological adaptations of pregnancy to the chronic hypoxia of high altitude to inform obstetrical and neonatal care.Physiological reviews · 2026Review
- Polymorphic Variant Associated with Sex Hormone-Binding Globulin Level Is a Risk Factor for Preeclampsia.International journal of molecular sciences · 2026Article
- 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
- Transcriptomic landscape of human circular RNAs: unveiling molecular mechanisms in high-altitude adaptation.Frontiers in genetics · 2026Article
- 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
- HiLand Resource: A Comprehensive Database of Highland Human Populations.Genomics, proteomics & bioinformatics · 2025Article
- Organ-system-based subclassification of preeclampsia using machine learning predicts pregnancy outcomes.BMC pregnancy and childbirth · 2025Article
- Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13.Research square · 2025Article
- Overexpression of the STOX1B isoform of STOX1 triggers preeclampsia-like symptoms through HNF4α-dependent alterations of coagulation cascades in mice.Scientific reports · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Application of thromboelastogram and coagulation function in evaluating coagulation status of pregnant women across different trimesters.Frontiers in medicine · 2025Article
- Urinary protein and coagulation-fibrinolysis indicators in preeclampsia: Expression and significance.Journal of clinical hypertension (Greenwich, Conn.) · 2024Article
- Biogeographic Perspectives on Human Genetic Diversification.Molecular biology and evolution · 2024Article
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Genetic associations with disease in populations with Indigenous American ancestries.Genetics and molecular biology · 2024Article
- Pre-eclampsia.Nature reviews. Disease primers · 2023Review
- A review of ancestrality and admixture in Latin America and the caribbean focusing on native American and African descendant populations.Frontiers in genetics · 2023Review
- Disentangling Signatures of Selection Before and After European Colonization in Latin Americans.Molecular biology and evolution · 2022Article
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Authors and funding
34 authors at 15 institutions in 11 countries.
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Abstract
Preeclampsia is a multi-organ complication of pregnancy characterized by sudden hypertension and proteinuria that is among the leading causes of preterm delivery and maternal morbidity and mortality worldwide. The heterogeneity of preeclampsia poses a challenge for understanding its etiology and molecular basis. Intriguingly, risk for the condition increases in high-altitude regions such as the Peruvian Andes. To investigate the genetic basis of preeclampsia in a population living at high altitude, we characterized genome-wide variation in a cohort of preeclamptic and healthy Andean families (n = 883) from Puno, Peru, a city located above 3,800 meters of altitude. Our study collected genomic DNA and medical records from case-control trios and duos in local hospital settings. We generated genotype data for 439,314 SNPs, determined global ancestry patterns, and mapped associations between genetic variants and preeclampsia phenotypes. A transmission disequilibrium test (TDT) revealed variants near genes of biological importance for placental and blood vessel function. The top candidate region was found on chromosome 13 of the fetal genome and contains clotting factor genes PROZ, F7, and F10. These findings provide supporting evidence that common genetic variants within coagulation genes play an important role in preeclampsia. A selection scan revealed a potential adaptive signal around the ADAM12 locus on chromosome 10, implicated in pregnancy disorders. Our discovery of an association in a functional pathway relevant to pregnancy physiology in an understudied population of Native American origin demonstrates the increased power of family-based study design and underscores the importance of conducting genetic research in diverse populations.
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