Quantitative trait locus mapping in placenta: A comparative study of chorionic villus and birth placenta.

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  • Additional Information
    • Source:
      Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
    • Publication Information:
      Original Publication: New York : Elsevier Inc., [2020]-
    • Subject Terms:
      Quantitative Trait Loci* ; DNA Methylation* ; Placenta*/metabolism ; Polymorphism, Single Nucleotide* ; Genome-Wide Association Study* ; Chorionic Villi*/metabolism; Humans ; Female ; Pregnancy ; Adult ; Chromosome Mapping ; Finland ; Phenotype
    • Abstract:
      The placenta, a pivotal player in the prenatal environment, holds crucial insights into early developmental pathways and future health outcomes. In this study, we explored genetic molecular regulation in chorionic villus samples (CVS) from the first trimester and placenta tissue at birth. We assessed quantitative trait locus (QTL) mapping on DNA methylation and gene expression data in a Finnish cohort of 574 individuals. We found more QTLs in birth placenta than in first-trimester placenta. Nevertheless, a substantial amount of associations overlapped in their effects and showed consistent direction in both tissues, with increasing molecular genetic effects from early pregnancy to birth placenta. The identified QTLs in birth placenta were most enriched in genes with placenta-specific expression. Conducting a phenome-wide-association study (PheWAS) on the associated SNPs, we observed numerous overlaps with genome-wide association study (GWAS) hits (spanning 57 distinct traits and 23 SNPs), with notable enrichments for immunological, skeletal, and respiratory traits. The QTL-SNP rs1737028 (chr6:29737993) presented with the highest number of GWAS hits. This SNP was related to HLA-G expression via DNA methylation and was associated with various immune, respiratory, and psychiatric traits. Our findings implicate increasing genetic molecular regulation during the course of pregnancy and support the involvement of placenta gene regulation, particularly in immunological traits. This study presents a framework for understanding placenta-specific gene regulation during pregnancy and its connection to health-related traits.
      Competing Interests: Declaration of interests The authors declare no competing interests.
      (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)
    • Contributed Indexing:
      Keywords: CVS; PheWAS; QTL; molecular trait; placenta
    • Publication Date:
      Date Created: 20240712 Date Completed: 20241011 Latest Revision: 20241011
    • Publication Date:
      20241012
    • Accession Number:
      PMC11365441
    • Accession Number:
      10.1016/j.xhgg.2024.100326
    • Accession Number:
      38993113