Communications Biology (Nov 2021)
CYP11B1 variants influence skeletal maturation via alternative splicing
- 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
Affiliations
- Olja Grgic
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- Matthew R. Gazzara
- Department of Genetics, Perelman School of Medicine, University of Pennsylvania
- Alessandra Chesi
- Center for Spatial and Functional Genomics, Children’s Hospital of Philadelphia
- Carolina Medina-Gomez
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- Diana L. Cousminer
- Department of Genetics, Perelman School of Medicine, University of Pennsylvania
- Jonathan A. Mitchell
- Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania
- Vid Prijatelj
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- Jard de Vries
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- Enisa Shevroja
- Bone and Joint Department, Center of Bone Diseases, Lausanne University Hospital
- Shana E. McCormack
- Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania
- Heidi J. Kalkwarf
- Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine
- Joan M. Lappe
- Division of Endocrinology, Creighton University
- Vicente Gilsanz
- Division of Orthopedic Surgery, Children’s Hospital Los Angeles, Keck School of Medicine, University of Southern California
- Sharon E. Oberfield
- Division of Pediatric Endocrinology, Morgan Stanley Children’s Hospital, Columbia University Irving Medical Center
- John A. Shepherd
- Cancer Epidemiology, University of Hawai’i Cancer Center
- Andrea Kelly
- Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania
- Soroosh Mahboubi
- Department of Radiology, Children’s Hospital of Philadelphia
- Fabio R. Faucz
- Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health
- Richard A. Feelders
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- Frank H. de Jong
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- Andre G. Uitterlinden
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- Jenny A. Visser
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- Louis R. Ghanem
- Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania
- Eppo B. Wolvius
- Department of Oral and Maxillofacial Surgery, Erasmus MC, University Medical Center Rotterdam
- Leo J. Hofland
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- Constantine A. Stratakis
- Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health
- Babette S. Zemel
- Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania
- Yoseph Barash
- Department of Genetics, Perelman School of Medicine, University of Pennsylvania
- Struan F. A. Grant
- Department of Genetics, Perelman School of Medicine, University of Pennsylvania
- Fernando Rivadeneira
- Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam
- DOI
- https://doi.org/10.1038/s42003-021-02774-y
- Journal volume & issue
-
Vol. 4,
no. 1
pp. 1 – 10
Abstract
Olja Grgic, Matthew Gazzara, and Alessandra Chesi et al. perform a genome-wide association study meta-analysis for skeletal age in two pediatric cohorts. They observe that variation in the adrenal gene, CYP11B1, impacts its alternative splicing, suggesting that adrenal steroidogenesis may contribute toward variation in skeletal age in otherwise healthy children.
