ArticleHuman molecular genetics2017
Expression quantitative trait loci (eQTLs) in human placentas suggest developmental origins of complex diseases.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 8 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 8 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Cross-ancestry analysis of gestational diabetes mellitus identifies novel loci, drug targets and biological pathways.Frontiers in endocrinology · 2026Pooled it
- Cross-ancestry genome-wide association study identifies new susceptibility genes for preeclampsia.BMC pregnancy and childbirth · 2025Pooled it
- Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci.PLoS genetics · 2023Pooled it
- Pooled it
- Current approaches and developments in transcript profiling of the human placenta.Human reproduction update · 2020Pooled it
- Trans-ethnic meta-analysis of genome-wide association studies identifies maternal ITPR1 as a novel locus influencing fetal growth during sensitive periods in pregnancy.PLoS genetics · 2020Pooled it
- Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration.Nature communications · 2019Pooled it
- Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.Nature genetics · 2019Pooled it
- DNA methylation loci in placenta associated with birthweight and expression of genes relevant for early development and adult diseases.Clinical epigenetics · 2020Trial
- S-PrediXcan predicted gene expression in human placenta is associated with childhood-onset asthma risk.Scientific reports · 2026Article
- Long-read assembly reveals vast transcriptional complexity in the placenta associated with metabolic and endocrine function.Nature communications · 2026Article
- Association ofInternational journal of molecular sciences · 2025Article
- Association of placental weight and placental-fetal weight ratio with DNA methylation in placenta.Epigenomics · 2025Article
- Potentially causal associations between placental DNA methylation and schizophrenia and other neuropsychiatric disorders.Nature communications · 2025Article
- Associations between maternal plasma concentrations of corticotrophin releasing hormone and the placental transcriptome.Placenta · 2025Article
- Placental Origins of Preeclampsia: Insights from Multi-Omic Studies.International journal of molecular sciences · 2024Review
- Genomic Insights into Gestational Weight Gain: Uncovering Tissue-Specific Mechanisms and Pathways.Research square · 2024Article
- Article
- Genomic insights into gestational weight gain uncover tissue-specific mechanisms and pathways.npj women's health · 2024Article
- Unraveling the causal genes and transcriptomic determinants of human telomere length.Nature communications · 2023Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Epidemiologic studies support that at least part of the risk of chronic diseases in childhood and even adulthood may have an in utero origin, and the placenta is a key organ that plays a pivotal role in fetal growth and development. The transcriptomes of 159 human placenta tissues were profiled by genome-wide RNA sequencing (Illumina High-Seq 2500), and linked to fetal genotypes assessed by a high density single nucleotide polymorphism (SNP) genotyping array (Illumina MegaEx). Expression quantitative trait loci (eQTLs) across all annotated transcripts were mapped and examined for enrichment for disease susceptibility loci annotated in the genome-wide association studies (GWAS) catalog. We discovered 3218 cis- and 35 trans-eQTLs at ≤10% false discovery rate in human placentas. Among the 16 439 known disease loci of genome-wide significance, 835 were placental eSNPs (enrichment fold = 1.68, P = 7.41e-42). Stronger effect sizes were observed between GWAS SNPs and gene expression in placentas than what has been reported in other tissues, such as the correlation between asthma risk allele, rs7216389-T and Gasdermin-B (GSDMB) in placenta (r2=27%) versus lung (r2=6%). Finally, our results suggest the placental eQTLs may mediate the function of GWAS loci on postnatal disease susceptibility. Results suggest that transcripts in placenta are under tight genetic control, and that placental gene networks may influence postnatal risk of multiple human diseases lending support for the Developmental Origins of Health and Disease.
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