CYP11B1 variants influence skeletal maturation via alternative splicing View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-11-09

AUTHORS

Olja Grgic, Matthew R. Gazzara, Alessandra Chesi, Carolina Medina-Gomez, Diana L. Cousminer, Jonathan A. Mitchell, Vid Prijatelj, Jard de Vries, Enisa Shevroja, Shana E. McCormack, Heidi J. Kalkwarf, Joan M. Lappe, Vicente Gilsanz, Sharon E. Oberfield, John A. Shepherd, Andrea Kelly, Soroosh Mahboubi, Fabio R. Faucz, Richard A. Feelders, Frank H. de Jong, Andre G. Uitterlinden, Jenny A. Visser, Louis R. Ghanem, Eppo B. Wolvius, Leo J. Hofland, Constantine A. Stratakis, Babette S. Zemel, Yoseph Barash, Struan F. A. Grant, Fernando Rivadeneira

ABSTRACT

We performed genome-wide association study meta-analysis to identify genetic determinants of skeletal age (SA) deviating in multiple growth disorders. The joint meta-analysis (N = 4557) in two multiethnic cohorts of school-aged children identified one locus, CYP11B1 (expression confined to the adrenal gland), robustly associated with SA (rs6471570-A; β = 0.14; P = 6.2 × 10−12). rs6410 (a synonymous variant in the first exon of CYP11B1 in high LD with rs6471570), was prioritized for functional follow-up being second most significant and the one closest to the first intron-exon boundary. In 208 adrenal RNA-seq samples from GTEx, C-allele of rs6410 was associated with intron 3 retention (P = 8.11 × 10−40), exon 4 inclusion (P = 4.29 × 10−34), and decreased exon 3 and 5 splicing (P = 7.85 × 10−43), replicated using RT-PCR in 15 adrenal samples. As CYP11B1 encodes 11-β-hydroxylase, involved in adrenal glucocorticoid and mineralocorticoid biosynthesis, our findings highlight the role of adrenal steroidogenesis in SA in healthy children, suggesting alternative splicing as a likely underlying mechanism. More... »

PAGES

1274

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  • Journal

    TITLE

    Communications Biology

    ISSUE

    1

    VOLUME

    4

    Author Affiliations

  • The Generation R Study, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands
  • Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, 2615 Civic Center Boulevard, 19104, Philadelphia, PA, USA
  • Center for Spatial and Functional Genomics, Children’s Hospital of Philadelphia, 3401 Civic Center Boulevard, 19104, Philadelphia, PA, USA
  • Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands
  • Division of Human Genetics, Children’s Hospital of Philadelphia, 3401 Civic Center Boulevard, 19104, Philadelphia, PA, USA
  • Division of Gastroenterology, Hepatology, and Nutrition, The Children’s Hospital of Philadelphia, 3401 Civic Center Boulevard Philadelphia, 19104, Philadelphia, PA, USA
  • Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands
  • Bone and Joint Department, Center of Bone Diseases, Lausanne University Hospital, Rue du Bugnon 46, 1011, Lausanne, Switzerland
  • Division of Endocrinology and Diabetes, Children’s Hospital of Philadelphia, 3401 Civic Center Boulevard Philadelphia, 19104, Philadelphia, PA, USA
  • Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Ave, 45229, Cincinnati, OH, USA
  • Division of Endocrinology, Creighton University, 2500 California Plaza, 68178, Omaha, NE, USA
  • Department of Radiology, Children’s Hospital Los Angeles, Keck School of Medicine, University of Southern California, 1975 Zonal Ave, 90033, Los Angeles, CA, USA
  • Division of Pediatric Endocrinology, Morgan Stanley Children’s Hospital, Columbia University Irving Medical Center, 622 West 168th Street, PH17 W 307, 10032, New York, NY, USA
  • Cancer Epidemiology, University of Hawai’i Cancer Center, 701 Ilalo St, 96813, Honolulu, HI, USA
  • Department of Radiology, Children’s Hospital of Philadelphia, 3401 Civic Center Boulevard, 19104, Philadelphia, PA, USA
  • Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, 6710 Rockledge Dr, 20817, Bethesda, MD, USA
  • Department of Genetics, Perelman School of Medicine, University of Pennsylvania, 2615 Civic Center Boulevard, 19104, Philadelphia, PA, USA
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s42003-021-02774-y

    DOI

    http://dx.doi.org/10.1038/s42003-021-02774-y

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1142432731

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34754074


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    440 grid-institutes:grid.8515.9 schema:alternateName Bone and Joint Department, Center of Bone Diseases, Lausanne University Hospital, Rue du Bugnon 46, 1011, Lausanne, Switzerland
    441 schema:name Bone and Joint Department, Center of Bone Diseases, Lausanne University Hospital, Rue du Bugnon 46, 1011, Lausanne, Switzerland
    442 rdf:type schema:Organization
     




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