ArticlePloS one2022
Population history and genome wide association studies of birth weight in a native high altitude Ladakhi population.
Article in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Understanding physiological adaptations of pregnancy to the chronic hypoxia of high altitude to inform obstetrical and neonatal care.Physiological reviews · 2026Review
- Article
- Variations in Pulse-Oxygen Saturation and Physical Development within the First 2 Hours after Birth Among Healthy Term Neonates Different Altitudes.Physiological research · 2026Article
- HiLand Resource: A Comprehensive Database of Highland Human Populations.Genomics, proteomics & bioinformatics · 2025Article
- High-altitude pregnancy adaptation: evidence from a Himalayan population in Leh.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Using transcriptomic signatures to elucidate individual and mixture effects of inorganic arsenic and manganese in human placental trophoblast HTR-8/SVneo cells.Toxicological sciences : an official journal of the Society of Toxicology · 2025Article
- Effects of hypoxia on uteroplacental and fetoplacental vascular function during pregnancy.Frontiers in physiology · 2024Review
- Altitude Modifies the Effect of Parity on Birth Weight/Length Ratio: A Study Comprising 2,057,702 Newborns between 1984 and 2020 in Austria.Life (Basel, Switzerland) · 2023Article
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
Pathological low birth weight due to fetal growth restriction (FGR) is an important predictor of adverse obstetric and neonatal outcomes. It is more common amongst native lowlanders when gestating in the hypoxic environment of high altitude, whilst populations who have resided at high altitude for many generations are relatively protected. Genetic study of pregnant populations at high altitude permits exploration of the role of hypoxia in FGR pathogenesis, and perhaps of FGR pathogenesis more broadly. We studied the umbilical cord blood DNA of 316 neonates born to pregnant women managed at the Sonam Norboo Memorial Hospital, Ladakh (altitude 3540m) between February 2017 and January 2019. Principal component, admixture and genome wide association studies (GWAS) were applied to dense single nucleotide polymorphism (SNP) genetic data, to explore ancestry and genetic predictors of low birth weight. Our findings support Tibetan ancestry in the Ladakhi population, with subsequent admixture with neighboring Indo-Aryan populations. Fetal growth protection was evident in Ladakhi neonates. Although no variants achieved genome wide significance, we observed nominal association of seven variants across genes (ZBTB38, ZFP36L2, HMGA2, CDKAL1, PLCG1) previously associated with birthweight.
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Registered trials
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.