ORCID Profile
0000-0002-3140-672X
Current Organisations
Deakin University
,
Charles Sturt University
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Publisher: Springer Science and Business Media LLC
Date: 14-01-2019
DOI: 10.1038/S41467-018-08078-W
Abstract: The original version of this Article contained errors in the spelling of the authors Fan Liu and M. Arfan Ikram, which were incorrectly given as Fan Lui and Arfan M. Ikram. In addition, the original version of this Article also contained errors in the author affiliations which are detailed in the associated Publisher Correction.
Publisher: Informa UK Limited
Date: 03-04-2019
Publisher: Informa UK Limited
Date: 02-01-2019
Publisher: Springer International Publishing
Date: 2019
Publisher: Informa UK Limited
Date: 03-04-2023
Publisher: Wiley
Date: 2019
DOI: 10.1002/PRA2.17
Publisher: Springer Science and Business Media LLC
Date: 26-11-2018
Publisher: Elsevier BV
Date: 04-2018
Publisher: Informa UK Limited
Date: 02-01-2023
Publisher: Springer Science and Business Media LLC
Date: 03-01-2017
DOI: 10.1038/MP.2016.198
Publisher: Springer Science and Business Media LLC
Date: 16-04-2018
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 24-09-2019
Publisher: Informa UK Limited
Date: 10-2020
Publisher: Springer Science and Business Media LLC
Date: 31-12-2018
Publisher: BMJ
Date: 29-08-2018
DOI: 10.1136/BMJ.K3225
Abstract: To identify the genetic determinants of fracture risk and assess the role of 15 clinical risk factors on osteoporotic fracture risk. Meta-analysis of genome wide association studies (GWAS) and a two-s le mendelian randomisation approach. 25 cohorts from Europe, United States, east Asia, and Australia with genome wide genotyping and fracture data. A discovery set of 37 857 fracture cases and 227 116 controls with replication in up to 147 200 fracture cases and 150 085 controls. Fracture cases were defined as in iduals (>18 years old) who had fractures at any skeletal site confirmed by medical, radiological, or questionnaire reports. Instrumental variable analyses were performed to estimate effects of 15 selected clinical risk factors for fracture in a two-s le mendelian randomisation framework, using the largest previously published GWAS meta-analysis of each risk factor. Of 15 fracture associated loci identified, all were also associated with bone mineral density and mapped to genes clustering in pathways known to be critical to bone biology (eg, This large scale GWAS meta-analysis for fracture identified 15 genetic determinants of fracture, all of which also influenced bone mineral density. Among the clinical risk factors for fracture assessed, only bone mineral density showed a major causal effect on fracture. Genetic predisposition to lower levels of vitamin D and estimated calcium intake from dairy sources were not associated with fracture risk.
Publisher: Springer Science and Business Media LLC
Date: 14-01-2019
Publisher: Informa UK Limited
Date: 02-04-2020
Publisher: Informa UK Limited
Date: 02-01-2020
Publisher: Springer Science and Business Media LLC
Date: 02-01-2019
Publisher: Springer Science and Business Media LLC
Date: 21-01-2019
DOI: 10.1038/S41467-018-07863-X
Abstract: Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adulthood are little understood, but might include both age-specific genetic factors and low-frequency genetic variation. Here, we model the developmental genetic architecture of HC, showing this is genetically stable and correlated with genetic determinants of ICV. Investigating up to 46,000 children and adults of European descent, we identify association with final HC and/or final ICV + HC at 9 novel common and low-frequency loci, illustrating that genetic variation from a wide allele frequency spectrum contributes to cranial growth. The largest effects are reported for low-frequency variants within TP53 , with 0.5 cm wider heads in increaser-allele carriers versus non-carriers during mid-childhood, suggesting a previously unrecognized role of TP53 transcripts in human cranial development.
Publisher: Elsevier BV
Date: 04-2018
Publisher: Springer Science and Business Media LLC
Date: 05-2019
Publisher: Informa UK Limited
Date: 03-04-2017
Publisher: Elsevier BV
Date: 11-2018
No related grants have been discovered for Rebecca Muir.