Pub Date : 2016-05-04eCollection Date: 2016-01-01DOI: 10.1038/bonekey.2016.24
Javier Riancho, Alvaro Del Real, José A Riancho
Epigenetic mechanisms are able to alter gene expression, without altering DNA sequence, in a stable manner through cell divisions. They include, among others, the methylation of DNA cytosines and microRNAs and allow the cells to adapt to changing environmental conditions. In recent years, epigenetic association studies are providing new insights into the pathogenesis of complex disorders including prevalent skeletal disorders. Unlike the genome, the epigenome is cell and tissue specific and may change with age and a number of acquired factors. This poses particular difficulties for the design and interpretation of epigenetic studies, particularly those exploring the association of genome-wide epigenetic marks with disease phenotypes. In this report, we propose a framework to help in the critical appraisal of epigenetic association studies. In line with previous suggestions, we focus on the questions critical to appraise the validity of the study, to interpret the results and to assess the generalizability and relevance of the information.
{"title":"How to interpret epigenetic association studies: a guide for clinicians.","authors":"Javier Riancho, Alvaro Del Real, José A Riancho","doi":"10.1038/bonekey.2016.24","DOIUrl":"https://doi.org/10.1038/bonekey.2016.24","url":null,"abstract":"<p><p>Epigenetic mechanisms are able to alter gene expression, without altering DNA sequence, in a stable manner through cell divisions. They include, among others, the methylation of DNA cytosines and microRNAs and allow the cells to adapt to changing environmental conditions. In recent years, epigenetic association studies are providing new insights into the pathogenesis of complex disorders including prevalent skeletal disorders. Unlike the genome, the epigenome is cell and tissue specific and may change with age and a number of acquired factors. This poses particular difficulties for the design and interpretation of epigenetic studies, particularly those exploring the association of genome-wide epigenetic marks with disease phenotypes. In this report, we propose a framework to help in the critical appraisal of epigenetic association studies. In line with previous suggestions, we focus on the questions critical to appraise the validity of the study, to interpret the results and to assess the generalizability and relevance of the information. </p>","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856000/pdf/bonekey201624.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34496578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-04-06eCollection Date: 2016-01-01DOI: 10.1038/bonekey.2016.14
Jorma A Määttä, Ameya Bendre, Mervi Laanti, Kalman G Büki, Pia Rantakari, Päivi Tervola, Johanna Saarimäki, Matti Poutanen, Pirkko Härkönen, Kalervo Väänänen
Fam3c, a cytokine-like growth factor, has been suggested to have a role in epithelial-to-mesenchymal transition (EMT), tumor growth and metastasis. A single-nucleotide polymorphism affecting bone mineral density has been found in the first intron of the Fam3c gene in a study analyzing an Asian population cohort. Other independent studies on different population cohorts have found the fam3c locus to be associated with bone mineral density and fractures. In order to investigate the role of Fam3c in bone biology, we have generated a Fam3c knock-out (KO) mouse strain. The Fam3c KO mice were found to have normal appearance, behavior and fertility, but small changes in bone morphology and content were also observed. Micro-CT analysis of tibiae of the female mice revealed decreased number of trabeculae. In male mice the changes in the bone phenotype were smaller, but hematological changes were observed. Furthermore, there was a negative correlation between body weight and tibial trabecular and cortical bone volume in the male KO mice. There was a small increase in cortical bone mineral density, but in the lateral direction of tibiae the breaking strength was reduced. Fam3c KO bone marrow cells showed accelerated osteogenic differentiation and mineralization in vitro. The reduced number of bone trabeculae in Fam3c KO mice and the stimulated osteogenic differentiation indicate a role for Fam3c in osteoblast differentiation and bone homeostasis.
{"title":"Fam3c modulates osteogenic cell differentiation and affects bone volume and cortical bone mineral density.","authors":"Jorma A Määttä, Ameya Bendre, Mervi Laanti, Kalman G Büki, Pia Rantakari, Päivi Tervola, Johanna Saarimäki, Matti Poutanen, Pirkko Härkönen, Kalervo Väänänen","doi":"10.1038/bonekey.2016.14","DOIUrl":"https://doi.org/10.1038/bonekey.2016.14","url":null,"abstract":"<p><p>Fam3c, a cytokine-like growth factor, has been suggested to have a role in epithelial-to-mesenchymal transition (EMT), tumor growth and metastasis. A single-nucleotide polymorphism affecting bone mineral density has been found in the first intron of the Fam3c gene in a study analyzing an Asian population cohort. Other independent studies on different population cohorts have found the fam3c locus to be associated with bone mineral density and fractures. In order to investigate the role of Fam3c in bone biology, we have generated a Fam3c knock-out (KO) mouse strain. The Fam3c KO mice were found to have normal appearance, behavior and fertility, but small changes in bone morphology and content were also observed. Micro-CT analysis of tibiae of the female mice revealed decreased number of trabeculae. In male mice the changes in the bone phenotype were smaller, but hematological changes were observed. Furthermore, there was a negative correlation between body weight and tibial trabecular and cortical bone volume in the male KO mice. There was a small increase in cortical bone mineral density, but in the lateral direction of tibiae the breaking strength was reduced. Fam3c KO bone marrow cells showed accelerated osteogenic differentiation and mineralization in vitro. The reduced number of bone trabeculae in Fam3c KO mice and the stimulated osteogenic differentiation indicate a role for Fam3c in osteoblast differentiation and bone homeostasis. </p>","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822344/pdf/bonekey201614.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34469613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-04-06eCollection Date: 2016-01-01DOI: 10.1038/bonekey.2016.21
Olivier Lapérine, Jérôme Guicheux, Philippe Lesclous
{"title":"Periostin-deficient mice, a relevant animal model to investigate periodontitis or not?","authors":"Olivier Lapérine, Jérôme Guicheux, Philippe Lesclous","doi":"10.1038/bonekey.2016.21","DOIUrl":"https://doi.org/10.1038/bonekey.2016.21","url":null,"abstract":"","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822343/pdf/bonekey201621.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34469612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"TBS and bone strength.","authors":"B. Cortet, V. Bousson","doi":"10.1038/bonekey.2016.19","DOIUrl":"https://doi.org/10.1038/bonekey.2016.19","url":null,"abstract":"","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58484157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Therapeutic actions of curcumin in bone disorders.","authors":"R. Rohanizadeh, Yi Deng, E. Verron","doi":"10.1038/bonekey.2016.20","DOIUrl":"https://doi.org/10.1038/bonekey.2016.20","url":null,"abstract":"","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1038/bonekey.2016.20","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58484274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Activation of intracellular calcium signaling in osteoblasts colocalizes with the formation of post-yield diffuse microdamage in bone matrix.","authors":"Hyungjin Jung, O. Akkus","doi":"10.1038/bonekey.2016.5","DOIUrl":"https://doi.org/10.1038/bonekey.2016.5","url":null,"abstract":"","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58484112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jinlu Dai, Janine Hensel, Ning Wang, Marianna Kruithof-de Julio, Y. Shiozawa
{"title":"Mouse models for studying prostate cancer bone metastasis.","authors":"Jinlu Dai, Janine Hensel, Ning Wang, Marianna Kruithof-de Julio, Y. Shiozawa","doi":"10.1038/bonekey.2016.4","DOIUrl":"https://doi.org/10.1038/bonekey.2016.4","url":null,"abstract":"","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1038/bonekey.2016.4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58484399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. Fernández-Roldán, F. Genre, R. López-Mejías, B. Ubilla, V. Mijares, D. S. Cano, C. Robles, J. Callejas-Rubio, R. R. Fernández, M. Ruiz, M. González-Gay, N. Ortego Centeno
{"title":"Sclerostin serum levels in patients with systemic autoimmune diseases.","authors":"C. Fernández-Roldán, F. Genre, R. López-Mejías, B. Ubilla, V. Mijares, D. S. Cano, C. Robles, J. Callejas-Rubio, R. R. Fernández, M. Ruiz, M. González-Gay, N. Ortego Centeno","doi":"10.1038/bonekey.2016.2","DOIUrl":"https://doi.org/10.1038/bonekey.2016.2","url":null,"abstract":"","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58484249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Glucose: not always the bad guy.","authors":"T. Brennan-Speranza, I. Levinger","doi":"10.1038/bonekey.2016.1","DOIUrl":"https://doi.org/10.1038/bonekey.2016.1","url":null,"abstract":"","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1038/bonekey.2016.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58484141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-02-03DOI: 10.1038/bonekey.2015.142
S. Lwin, C. Edwards, R. Silbermann
{"title":"Preclinical animal models of multiple myeloma.","authors":"S. Lwin, C. Edwards, R. Silbermann","doi":"10.1038/bonekey.2015.142","DOIUrl":"https://doi.org/10.1038/bonekey.2015.142","url":null,"abstract":"","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1038/bonekey.2015.142","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58484094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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