Skull BMD GWAS 2023

Genome Wide Association Metanalysis Of Skull Bone Mineral Density Identifies Loci Relevant For Osteoporosis And Craniosynostosis

All the analyses publicly shared are based on DXA derived skull BMD as described in Medina-Gomez et al. Communications Biology 2023.

Please read the supplementary material for information in individuals and cohort study included in each of the files.

GWAS data file description

Result Files include the following variables:

Presented as chromosome:position Coded allele, refers to effect size/beta Noncoded allele Frequency of Allele1 Beta estimate Standard error of the beta P-value from inverse-variance meta-analysis I2 heterogeneity statistic Heterogeneity p-value Sample size per analyzed marker

Publications:

Carolina Medina-Gomez, Benjamin H. Mullin, Alessandra Chesi, Vid Prijatelj, John P. Kemp, Chen Shochat-Carvalho, Katerina Trajanoska, Carol Wang, Raimo Joro, Tavia E. Evans, Katharina E. Schraut, Ruifang Li-Gao, Tarunveer S. Ahluwalia, M. Carola Zillikens, Kun Zhu, Dennis O. Mook-Kanamori, Daniel S. Evans, Maria Nethander, Maria J. Knol, Gudmar Thorleifsson, Ivana Prokic, Babette Zemel, Linda Broer, Fiona E. McGuigan, Natasja M. van Schoor, Sjur Reppe, Mikolaj A. Pawlak, Stuart H. Ralston, Nathalie van der Velde, Mattias Lorentzon, Kari Stefansson, Hieab H. H. Adams, Scott G. Wilson, M. Arfan Ikram, John P. Walsh, Timo A. Lakka, Kaare M. Gautvik, James F. Wilson, Eric S. Orwoll, Cornelia M. van Duijn, Klaus Bønnelykke, Andre G. Uitterlinden, Unnur Styrkársdóttir, Kristina E. Akesson, Timothy D. Spector, Jonathan H. Tobias, Claes Ohlsson, Janine F. Felix, Hans Bisgaard, Struan F. A. Grant, J. Brent Richards, David M. Evans, Bram van der Eerden, Jeroen van de Peppel, Cheryl Ackert-Bicknell, David Karasik, Erika Kague & Fernando Rivadeneira: Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis

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