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. medRXiv. 2021.

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:

Marker NamePresented as chromosome:position Allele1Coded allele, refers to effect size/beta Allele2Noncoded allele Freq1Frequency of Allele1 EffectBeta estimate StdErrStandard error of the beta P.valueP-value from inverse-variance meta-analysis HetISqI² heterogeneity statistic HetIPValHeterogeneity p-value NSample 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, Natasja 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 Stykársdóttir, 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: Genome Wide Association Metanalysis Of Skull Bone Mineral Density Identifies Loci Relevant For Osteoporosis And Craniosynostosis. medRXiv

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