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Search: (AMNE:(MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper)) hsvcat:3 pers:(Ohlsson Claes 1965) pers:(Rivadeneira F) > (2023) > Bone mineral densit...

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  • Medina-Gomez, C.Erasmus University Medical Center (author)

Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis

  • Article/chapterEnglish2023

Publisher, publication year, extent ...

  • 2023

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/328530
  • https://gup.ub.gu.se/publication/328530URI
  • https://doi.org/10.1038/s42003-023-04869-0DOI
  • https://lup.lub.lu.se/record/d6d88938-1310-4cde-8edb-3eea5dc31479URI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analysis (n similar to 43,800) of SK-BMD, identifying 59 loci, collectively explaining 12.5% of the trait variance. Association signals cluster within gene-sets involved in skeletal development and osteoporosis. Among the four novel loci (ZIC1, PRKAR1A, AZIN1/ATP6V1C1, GLRX3), there are factors implicated in intramembranous ossification and as we show, inherent to craniosynostosis processes. Functional follow-up in zebrafish confirms the importance of ZIC1 on cranial suture patterning. Likewise, we observe abnormal cranial bone initiation that culminates in ectopic sutures and reduced BMD in mosaic atp6v1c1 knockouts. Mosaic prkar1a knockouts present asymmetric bone growth and, conversely, elevated BMD. In light of this evidence linking SK-BMD loci to craniofacial abnormalities, our study provides new insight into the pathophysiology, diagnosis and treatment of skeletal diseases.

Subject headings and genre

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  • Mullin, B. H. (author)
  • Chesi, A. (author)
  • Prijatelj, V. (author)
  • Kemp, J. P. (author)
  • Shochat-Carvalho, C. (author)
  • Trajanoska, K. (author)
  • Wang, C. (author)
  • Joro, R. (author)
  • Evans, T. E. (author)
  • Schraut, K. E. (author)
  • Li-Gao, R. (author)
  • Ahluwalia, T. S. (author)
  • Zillikens, M. C. (author)
  • Zhu, K. (author)
  • Mook-Kanamori, D. O. (author)
  • Evans, D. S. (author)
  • Nethander, Maria,1980Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Core Facilities, Bioinformatics,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition,Core Facilities, Bioinformatics(Swepub:gu)xnetma (author)
  • Knol, M. J. (author)
  • Thorleifsson, G. (author)
  • Prokic, I. (author)
  • Zemel, B. (author)
  • Broer, L. (author)
  • McGuigan, F.E.Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups(Swepub:lu)med-fam (author)
  • van Schoor, N. M. (author)
  • Reppe, S. (author)
  • Pawlak, M. A. (author)
  • Ralston, S. H. (author)
  • van der Velde, N. (author)
  • Lorentzon, Mattias,1970Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research(Swepub:gu)xlomat (author)
  • Stefansson, K. (author)
  • Adams, H. H. H. (author)
  • Wilson, S. G. (author)
  • Ikram, M. A. (author)
  • Walsh, J. P. (author)
  • Lakka, T. A. (author)
  • Gautvik, K. M. (author)
  • Wilson, J. F. (author)
  • Orwoll, E. S. (author)
  • van Duijn, C. M. (author)
  • Bonnelykke, K. (author)
  • Uitterlinden, A. G. (author)
  • Styrkarsdottir, U. (author)
  • Akesson, K.E.Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)orto-kak (author)
  • Spector, T. D. (author)
  • Tobias, J. H. (author)
  • Ohlsson, Claes,1965Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition(Swepub:gu)xohlcl (author)
  • Felix, J. F. (author)
  • Bisgaard, H. (author)
  • Grant, S. F. A. (author)
  • Richards, J. B. (author)
  • Evans, D. M. (author)
  • van der Eerden, B. (author)
  • van de Peppel, J. (author)
  • Ackert-Bicknell, C. (author)
  • Karasik, D. (author)
  • Kague, E. (author)
  • Rivadeneira, F.Erasmus University Medical Center (author)
  • Erasmus University Medical CenterInstitutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition (creator_code:org_t)
  • et al.

Related titles

  • In:Communications Biology6:12399-3642

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