Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci.
Reppe, S
Wang, Y
Thompson, WK
McEvoy, LK
Schork, AJ
Zuber, V
LeBlanc, M
Bettella, F
Mills, IG
Desikan, RS
Djurovic, S
Gautvik, KM
Dale, AM
Andreassen, OA
GEFOS Consortium
- Publisher:
- Public Library of Science (PLoS)
- Publication Type:
- Journal Article
- Citation:
- PLoS ONE, 2015, 10 (12), pp. 1 - 20
- Issue Date:
- 2015-12-22
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Full metadata record
Field | Value | Language |
---|---|---|
dc.contributor.author | Reppe, S | en_US |
dc.contributor.author | Wang, Y | en_US |
dc.contributor.author | Thompson, WK | en_US |
dc.contributor.author | McEvoy, LK | en_US |
dc.contributor.author | Schork, AJ | en_US |
dc.contributor.author | Zuber, V | en_US |
dc.contributor.author | LeBlanc, M | en_US |
dc.contributor.author | Bettella, F | en_US |
dc.contributor.author | Mills, IG | en_US |
dc.contributor.author | Desikan, RS | en_US |
dc.contributor.author | Djurovic, S | en_US |
dc.contributor.author | Gautvik, KM | en_US |
dc.contributor.author | Dale, AM | en_US |
dc.contributor.author | Andreassen, OA | en_US |
dc.contributor.author | GEFOS Consortium | en_US |
dc.date.accessioned | 2017-09-18T05:32:42Z | |
dc.date.available | 2015-11-19 | en_US |
dc.date.available | 2017-09-18T05:32:42Z | |
dc.date.issued | 2015-12-22 | en_US |
dc.identifier.citation | PLoS ONE, 2015, 10 (12), pp. 1 - 20 | en_US |
dc.identifier.issn | 1932-6203 | en_US |
dc.identifier.uri | http://hdl.handle.net/10453/117259 | |
dc.description.abstract | Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity. | en_US |
dc.language | eng | en_US |
dc.publisher | Public Library of Science (PLoS) | en_US |
dc.relation.ispartof | PLoS ONE | en_US |
dc.relation.isbasedon | 10.1371/journal.pone.0144531 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject.classification | General Science & Technology | en_US |
dc.subject.mesh | Bone Density | en_US |
dc.subject.mesh | Cardiovascular Diseases | en_US |
dc.subject.mesh | Diabetes Mellitus, Type 1 | en_US |
dc.subject.mesh | Diabetes Mellitus, Type 2 | en_US |
dc.subject.mesh | Gene Regulatory Networks | en_US |
dc.subject.mesh | Genetic Loci | en_US |
dc.subject.mesh | Genetic Pleiotropy | en_US |
dc.subject.mesh | Genetic Predisposition to Disease | en_US |
dc.subject.mesh | Genome-Wide Association Study | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Models, Genetic | en_US |
dc.subject.mesh | Polymorphism, Single Nucleotide | en_US |
dc.subject.mesh | Waist-Hip Ratio | en_US |
dc.title | Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci. | en_US |
dc.type | Journal Article | |
utslib.citation.volume | 12 | en_US |
utslib.citation.volume | 10 | en_US |
utslib.location.activity | United States | en_US |
utslib.for | MD Multidisciplinary | en_US |
pubs.embargo.period | Not known | en_US |
pubs.organisational-group | /University of Technology Sydney | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Engineering and Information Technology | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Engineering and Information Technology/School of Biomedical Engineering | |
pubs.organisational-group | /University of Technology Sydney/Strength - CHT - Health Technologies | |
utslib.copyright.status | open_access | * |
pubs.declined | 2017-09-18T15:32:42.883+1000 | |
pubs.consider-herdc | false | en_US |
pubs.issue | 12 | en_US |
pubs.publication-status | Published online | en_US |
pubs.volume | 10 | en_US |
Abstract:
Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity.
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