Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis

Autores
Sookoian, Silvia Cristina; Pirola, Carlos José
Año de publicación
2014
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Nonalcoholic fatty liver disease (NAFLD) is a complex liver disease with worldwide prevalence. Its development involves a myriad of factors, including genetic susceptibility and environmental insults. In this review, we summarize new findings about current genome-wide association studies on NAFLD. In addition, we used a strategy of functional enrichment analysis to integrate all the newly discovered loci into common biological pathways and to explore their role in the pathogenesis of NAFLD. Controversies on the application of genetic testing to predict disease severity are discussed and specifically the role of rs738409 in clinical decision making. Finally, we highlighted significant trends and developments in epigenetic changes and microRNAs associated with disease progression.
Fil: Sookoian, Silvia Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Pirola, Carlos José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Materia
DNA METHYLATION
EPIGENETICS
GENETICS
GWAS
NAFLD
NASH
PERSONALIZED MEDICINE
PNPLA3
RISK PREDICTION
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/84825
Acceder
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network_name_str CONICET Digital (CONICET)
spelling Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease PathogenesisSookoian, Silvia CristinaPirola, Carlos JoséDNA METHYLATIONEPIGENETICSGENETICSGWASNAFLDNASHPERSONALIZED MEDICINEPNPLA3RISK PREDICTIONhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Nonalcoholic fatty liver disease (NAFLD) is a complex liver disease with worldwide prevalence. Its development involves a myriad of factors, including genetic susceptibility and environmental insults. In this review, we summarize new findings about current genome-wide association studies on NAFLD. In addition, we used a strategy of functional enrichment analysis to integrate all the newly discovered loci into common biological pathways and to explore their role in the pathogenesis of NAFLD. Controversies on the application of genetic testing to predict disease severity are discussed and specifically the role of rs738409 in clinical decision making. Finally, we highlighted significant trends and developments in epigenetic changes and microRNAs associated with disease progression.Fil: Sookoian, Silvia Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Pirola, Carlos José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaSpringer2014-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/84825Sookoian, Silvia Cristina; Pirola, Carlos José; Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis; Springer; Current Hepatology Reports; 13; 2; 2-2014; 97-1052195-9595CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://link.springer.com/article/10.1007/s11901-014-0222-xinfo:eu-repo/semantics/altIdentifier/doi/10.1007/s11901-014-0222-xinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-10T13:08:43Zoai:ri.conicet.gov.ar:11336/84825instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-10 13:08:44.134CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis
title Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis
spellingShingle Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis
Sookoian, Silvia Cristina
DNA METHYLATION
EPIGENETICS
GENETICS
GWAS
NAFLD
NASH
PERSONALIZED MEDICINE
PNPLA3
RISK PREDICTION
title_short Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis
title_full Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis
title_fullStr Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis
title_full_unstemmed Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis
title_sort Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis
dc.creator.none.fl_str_mv Sookoian, Silvia Cristina
Pirola, Carlos José
author Sookoian, Silvia Cristina
author_facet Sookoian, Silvia Cristina
Pirola, Carlos José
author_role author
author2 Pirola, Carlos José
author2_role author
dc.subject.none.fl_str_mv DNA METHYLATION
EPIGENETICS
GENETICS
GWAS
NAFLD
NASH
PERSONALIZED MEDICINE
PNPLA3
RISK PREDICTION
topic DNA METHYLATION
EPIGENETICS
GENETICS
GWAS
NAFLD
NASH
PERSONALIZED MEDICINE
PNPLA3
RISK PREDICTION
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Nonalcoholic fatty liver disease (NAFLD) is a complex liver disease with worldwide prevalence. Its development involves a myriad of factors, including genetic susceptibility and environmental insults. In this review, we summarize new findings about current genome-wide association studies on NAFLD. In addition, we used a strategy of functional enrichment analysis to integrate all the newly discovered loci into common biological pathways and to explore their role in the pathogenesis of NAFLD. Controversies on the application of genetic testing to predict disease severity are discussed and specifically the role of rs738409 in clinical decision making. Finally, we highlighted significant trends and developments in epigenetic changes and microRNAs associated with disease progression.
Fil: Sookoian, Silvia Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Pirola, Carlos José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
description Nonalcoholic fatty liver disease (NAFLD) is a complex liver disease with worldwide prevalence. Its development involves a myriad of factors, including genetic susceptibility and environmental insults. In this review, we summarize new findings about current genome-wide association studies on NAFLD. In addition, we used a strategy of functional enrichment analysis to integrate all the newly discovered loci into common biological pathways and to explore their role in the pathogenesis of NAFLD. Controversies on the application of genetic testing to predict disease severity are discussed and specifically the role of rs738409 in clinical decision making. Finally, we highlighted significant trends and developments in epigenetic changes and microRNAs associated with disease progression.
publishDate 2014
dc.date.none.fl_str_mv 2014-02
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/84825
Sookoian, Silvia Cristina; Pirola, Carlos José; Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis; Springer; Current Hepatology Reports; 13; 2; 2-2014; 97-105
2195-9595
CONICET Digital
CONICET
url http://hdl.handle.net/11336/84825
identifier_str_mv Sookoian, Silvia Cristina; Pirola, Carlos José; Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis; Springer; Current Hepatology Reports; 13; 2; 2-2014; 97-105
2195-9595
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://link.springer.com/article/10.1007/s11901-014-0222-x
info:eu-repo/semantics/altIdentifier/doi/10.1007/s11901-014-0222-x
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 12.993085

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