Ontology highlight
ABSTRACT:
SUBMITTER: Medina-Gomez C
PROVIDER: S-EPMC10319806 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
Medina-Gomez Carolina C Mullin Benjamin H BH Chesi Alessandra A Prijatelj Vid V Kemp John P JP Shochat-Carvalho Chen C Trajanoska Katerina K Wang Carol C Joro Raimo R Evans Tavia E TE Schraut Katharina E KE Li-Gao Ruifang R Ahluwalia Tarunveer S TS Zillikens M Carola MC Zhu Kun K Mook-Kanamori Dennis O DO Evans Daniel S DS Nethander Maria M Knol Maria J MJ Thorleifsson Gudmar G Prokic Ivana I Zemel Babette B Broer Linda L McGuigan Fiona E FE van Schoor Natasja M NM Reppe Sjur S Pawlak Mikolaj A MA Ralston Stuart H SH van der Velde Nathalie N Lorentzon Mattias M Stefansson Kari K Adams Hieab H H HHH Wilson Scott G SG Ikram M Arfan MA Walsh John P JP Lakka Timo A TA Gautvik Kaare M KM Wilson James F JF Orwoll Eric S ES van Duijn Cornelia M CM Bønnelykke Klaus K Uitterlinden Andre G AG Styrkársdóttir Unnur U Akesson Kristina E KE Spector Timothy D TD Tobias Jonathan H JH Ohlsson Claes C Felix Janine F JF Bisgaard Hans H Grant Struan F A SFA Richards J Brent JB Evans David M DM van der Eerden Bram B van de Peppel Jeroen J Ackert-Bicknell Cheryl C Karasik David D Kague Erika E Rivadeneira Fernando F
Communications biology 20230704 1
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 ~ 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, GLR ...[more]