AustralieFrV1, PubMed, Checkpoint, bibRecord, 003122

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

Identifieur interne : 003122 ( PubMed/Checkpoint ); précédent : 003121; suivant : 003123

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

Auteurs : Robert A. Hegele [Canada] ; Henry N. Ginsberg [États-Unis] ; M John Chapman [France] ; B Rge G. Nordestgaard [Danemark] ; Jan Albert Kuivenhoven [Pays-Bas] ; Maurizio Averna [Italie] ; Jan Borén [Suède] ; Eric Bruckert [France] ; Alberico L. Catapano [Italie] ; Olivier S. Descamps [Belgique] ; G Kees Hovingh [Pays-Bas] ; Steve E. Humphries [Royaume-Uni] ; Petri T. Kovanen [Finlande] ; Luis Masana [Espagne] ; P Ivi Pajukanta [États-Unis] ; Klaus G. Parhofer [Allemagne] ; Frederick J. Raal [Afrique du Sud] ; Kausik K. Ray [Royaume-Uni] ; Raul D. Santos [Brésil] ; Anton F H. Stalenhoef [Pays-Bas] ; Erik Stroes [Pays-Bas] ; Marja-Riitta Taskinen [Finlande] ; Anne Tybj Rg-Hansen [Danemark] ; Gerald F. Watts [Australie] ; Olov Wiklund [Suède]

Source :

The lancet. Diabetes & endocrinology [ 2213-8595 ] ; 2014.

RBID : pubmed:24731657

Descripteurs français

KwdFr :
- Animaux, Association thérapeutique, Guides de bonnes pratiques cliniques comme sujet, Humains, Hypertriglycéridémie (), Hypertriglycéridémie (diagnostic), Hypertriglycéridémie (génétique), Hypertriglycéridémie (étiologie), Hérédité multifactorielle, Marqueurs biologiques (sang), Mode de vie, Promotion de la santé, Prédisposition génétique à une maladie, Triglycéride (sang).
MESH :
- diagnostic : Hypertriglycéridémie.
- génétique : Hypertriglycéridémie.
- sang : Marqueurs biologiques, Triglycéride.
- étiologie : Hypertriglycéridémie.
- Animaux, Association thérapeutique, Guides de bonnes pratiques cliniques comme sujet, Humains, Hypertriglycéridémie, Hérédité multifactorielle, Mode de vie, Promotion de la santé, Prédisposition génétique à une maladie.

English descriptors

KwdEn :
- Animals, Biomarkers (blood), Combined Modality Therapy, Genetic Predisposition to Disease, Health Promotion, Humans, Hypertriglyceridemia (diagnosis), Hypertriglyceridemia (etiology), Hypertriglyceridemia (genetics), Hypertriglyceridemia (therapy), Life Style, Multifactorial Inheritance, Practice Guidelines as Topic, Triglycerides (blood).
MESH :
- chemical , blood : Biomarkers, Triglycerides.
- diagnosis : Hypertriglyceridemia.
- etiology : Hypertriglyceridemia.
- genetics : Hypertriglyceridemia.
- therapy : Hypertriglyceridemia.
- Animals, Combined Modality Therapy, Genetic Predisposition to Disease, Health Promotion, Humans, Life Style, Multifactorial Inheritance, Practice Guidelines as Topic.

Abstract

Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a monogenic cause; and mild-to-moderate (triglyceride concentration 2-10 mmol/L). Because of clustering of susceptibility alleles and secondary factors in families, biochemical screening and counselling for family members is essential, but routine genetic testing is not warranted. Treatment includes management of lifestyle and secondary factors, and pharmacotherapy. In severe hypertriglyceridaemia, intervention is indicated because of pancreatitis risk; in mild-to-moderate hypertriglyceridaemia, intervention can be indicated to prevent cardiovascular disease, dependent on triglyceride concentration, concomitant lipoprotein disturbances, and overall cardiovascular risk.

DOI: 10.1016/S2213-8587(13)70191-8
PubMed: 24731657

Affiliations:

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<author><name sortKey="Hovingh, G Kees" sort="Hovingh, G Kees" uniqKey="Hovingh G" first="G Kees" last="Hovingh">G Kees Hovingh</name>
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<author><name sortKey="Masana, Luis" sort="Masana, Luis" uniqKey="Masana L" first="Luis" last="Masana">Luis Masana</name>
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<author><name sortKey="Pajukanta, P Ivi" sort="Pajukanta, P Ivi" uniqKey="Pajukanta P" first="P Ivi" last="Pajukanta">P Ivi Pajukanta</name>
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<wicri:regionArea>Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name>
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</placeName>
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<author><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name>
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<author><name sortKey="Ray, Kausik K" sort="Ray, Kausik K" uniqKey="Ray K" first="Kausik K" last="Ray">Kausik K. Ray</name>
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<author><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name>
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<wicri:regionArea>Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo</wicri:regionArea>
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<author><name sortKey="Stalenhoef, Anton F H" sort="Stalenhoef, Anton F H" uniqKey="Stalenhoef A" first="Anton F H" last="Stalenhoef">Anton F H. Stalenhoef</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Internal Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea>
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</placeName>
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<author><name sortKey="Stroes, Erik" sort="Stroes, Erik" uniqKey="Stroes E" first="Erik" last="Stroes">Erik Stroes</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
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</placeName>
<orgName type="university">Université d'Amsterdam</orgName>
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<author><name sortKey="Taskinen, Marja Riitta" sort="Taskinen, Marja Riitta" uniqKey="Taskinen M" first="Marja-Riitta" last="Taskinen">Marja-Riitta Taskinen</name>
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<wicri:regionArea>Cardiovascular Research Group, Heart and Lung Centre, Helsinki University Central Hospital and Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki</wicri:regionArea>
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<author><name sortKey="Tybj Rg Hansen, Anne" sort="Tybj Rg Hansen, Anne" uniqKey="Tybj Rg Hansen A" first="Anne" last="Tybj Rg-Hansen">Anne Tybj Rg-Hansen</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
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<author><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine and Pharmacology, Royal Perth Hospital Unit, The University of Western Australia, Perth, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
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<author><name sortKey="Wiklund, Olov" sort="Wiklund, Olov" uniqKey="Wiklund O" first="Olov" last="Wiklund">Olov Wiklund</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Cardiology, Wallenberg Laboratory, Sahlgrenska University Hospital, Gothenburg, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Cardiology, Wallenberg Laboratory, Sahlgrenska University Hospital, Gothenburg</wicri:regionArea>
<wicri:noRegion>Gothenburg</wicri:noRegion>
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<author><name sortKey="Ginsberg, Henry N" sort="Ginsberg, Henry N" uniqKey="Ginsberg H" first="Henry N" last="Ginsberg">Henry N. Ginsberg</name>
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<author><name sortKey="Chapman, M John" sort="Chapman, M John" uniqKey="Chapman M" first="M John" last="Chapman">M John Chapman</name>
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<country xml:lang="fr">Danemark</country>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Molecular Genetics, University Medical Center Groningen, University of Groningen</wicri:regionArea>
<placeName><settlement type="city">Groningue (ville)</settlement>
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</placeName>
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<author><name sortKey="Averna, Maurizio" sort="Averna, Maurizio" uniqKey="Averna M" first="Maurizio" last="Averna">Maurizio Averna</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Internal Medicine, University of Palermo, Palermo, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Internal Medicine, University of Palermo, Palermo</wicri:regionArea>
<wicri:noRegion>Palermo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boren, Jan" sort="Boren, Jan" uniqKey="Boren J" first="Jan" last="Borén">Jan Borén</name>
<affiliation wicri:level="1"><nlm:affiliation>Strategic Research Center, Sahlgrenska Center for Cardiovascular and Metabolic Research, University of Gothenburg, Gothenburg, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Strategic Research Center, Sahlgrenska Center for Cardiovascular and Metabolic Research, University of Gothenburg, Gothenburg</wicri:regionArea>
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<author><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Endocrinology and Metabolism, Endocrinology and Cardiovascular Disease Prevention, Hôpital Pitié-Salpêtrière, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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<author><name sortKey="Catapano, Alberico L" sort="Catapano, Alberico L" uniqKey="Catapano A" first="Alberico L" last="Catapano">Alberico L. Catapano</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Pharmacological Sciences, University of Milan and Multimedica IRCSS, Milan, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Pharmacological Sciences, University of Milan and Multimedica IRCSS, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
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<author><name sortKey="Descamps, Olivier S" sort="Descamps, Olivier S" uniqKey="Descamps O" first="Olivier S" last="Descamps">Olivier S. Descamps</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre de Recherche Médicale, Lipid Clinic, Hopital de Jolimont, Haine Saint-Paul, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Centre de Recherche Médicale, Lipid Clinic, Hopital de Jolimont, Haine Saint-Paul</wicri:regionArea>
<wicri:noRegion>Haine Saint-Paul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hovingh, G Kees" sort="Hovingh, G Kees" uniqKey="Hovingh G" first="G Kees" last="Hovingh">G Kees Hovingh</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
<settlement type="city">Amsterdam</settlement>
</placeName>
<orgName type="university">Université d'Amsterdam</orgName>
</affiliation>
</author>
<author><name sortKey="Humphries, Steve E" sort="Humphries, Steve E" uniqKey="Humphries S" first="Steve E" last="Humphries">Steve E. Humphries</name>
<affiliation wicri:level="4"><nlm:affiliation>Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
<settlement type="city">Londres</settlement>
</placeName>
<orgName type="university">University College de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Kovanen, Petri T" sort="Kovanen, Petri T" uniqKey="Kovanen P" first="Petri T" last="Kovanen">Petri T. Kovanen</name>
<affiliation wicri:level="1"><nlm:affiliation>Wihuri Research Institute, Helsinki, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Wihuri Research Institute, Helsinki</wicri:regionArea>
<wicri:noRegion>Helsinki</wicri:noRegion>
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<author><name sortKey="Masana, Luis" sort="Masana, Luis" uniqKey="Masana L" first="Luis" last="Masana">Luis Masana</name>
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<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Vascular Medicine and Metabolism Unit, Sant Joan University Hospital, Universitat Rovira & Virgili, IISPV, CIBERDEM, Reus</wicri:regionArea>
<wicri:noRegion>Reus</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pajukanta, P Ivi" sort="Pajukanta, P Ivi" uniqKey="Pajukanta P" first="P Ivi" last="Pajukanta">P Ivi Pajukanta</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Endocrinology and Metabolism, University of Munich, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Endocrinology and Metabolism, University of Munich, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name>
<affiliation wicri:level="4"><nlm:affiliation>Division of Endocrinology and Metabolism, Director of the Carbohydrate and Lipid Metabolism Research Unit, University of the Witwatersrand, Johannesburg, South Africa.</nlm:affiliation>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Division of Endocrinology and Metabolism, Director of the Carbohydrate and Lipid Metabolism Research Unit, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
<placeName><settlement type="city">Johannesbourg</settlement>
<region type="region" nuts="2">Gauteng</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ray, Kausik K" sort="Ray, Kausik K" uniqKey="Ray K" first="Kausik K" last="Ray">Kausik K. Ray</name>
<affiliation wicri:level="3"><nlm:affiliation>Cardiovascular Sciences Research Centre, St George's Hospital NHS Trust, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Cardiovascular Sciences Research Centre, St George's Hospital NHS Trust, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name>
<affiliation wicri:level="3"><nlm:affiliation>Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.</nlm:affiliation>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stalenhoef, Anton F H" sort="Stalenhoef, Anton F H" uniqKey="Stalenhoef A" first="Anton F H" last="Stalenhoef">Anton F H. Stalenhoef</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Internal Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stroes, Erik" sort="Stroes, Erik" uniqKey="Stroes E" first="Erik" last="Stroes">Erik Stroes</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
<settlement type="city">Amsterdam</settlement>
</placeName>
<orgName type="university">Université d'Amsterdam</orgName>
</affiliation>
</author>
<author><name sortKey="Taskinen, Marja Riitta" sort="Taskinen, Marja Riitta" uniqKey="Taskinen M" first="Marja-Riitta" last="Taskinen">Marja-Riitta Taskinen</name>
<affiliation wicri:level="1"><nlm:affiliation>Cardiovascular Research Group, Heart and Lung Centre, Helsinki University Central Hospital and Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Cardiovascular Research Group, Heart and Lung Centre, Helsinki University Central Hospital and Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki</wicri:regionArea>
<wicri:noRegion>Helsinki</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tybj Rg Hansen, Anne" sort="Tybj Rg Hansen, Anne" uniqKey="Tybj Rg Hansen A" first="Anne" last="Tybj Rg-Hansen">Anne Tybj Rg-Hansen</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Medicine and Pharmacology, Royal Perth Hospital Unit, The University of Western Australia, Perth, WA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine and Pharmacology, Royal Perth Hospital Unit, The University of Western Australia, Perth, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wiklund, Olov" sort="Wiklund, Olov" uniqKey="Wiklund O" first="Olov" last="Wiklund">Olov Wiklund</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Cardiology, Wallenberg Laboratory, Sahlgrenska University Hospital, Gothenburg, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Cardiology, Wallenberg Laboratory, Sahlgrenska University Hospital, Gothenburg</wicri:regionArea>
<wicri:noRegion>Gothenburg</wicri:noRegion>
</affiliation>
</author>
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<series><title level="j">The lancet. Diabetes & endocrinology</title>
<idno type="eISSN">2213-8595</idno>
<imprint><date when="2014" type="published">2014</date>
</imprint>
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<term>Biomarkers (blood)</term>
<term>Combined Modality Therapy</term>
<term>Genetic Predisposition to Disease</term>
<term>Health Promotion</term>
<term>Humans</term>
<term>Hypertriglyceridemia (diagnosis)</term>
<term>Hypertriglyceridemia (etiology)</term>
<term>Hypertriglyceridemia (genetics)</term>
<term>Hypertriglyceridemia (therapy)</term>
<term>Life Style</term>
<term>Multifactorial Inheritance</term>
<term>Practice Guidelines as Topic</term>
<term>Triglycerides (blood)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term>
<term>Association thérapeutique</term>
<term>Guides de bonnes pratiques cliniques comme sujet</term>
<term>Humains</term>
<term>Hypertriglycéridémie ()</term>
<term>Hypertriglycéridémie (diagnostic)</term>
<term>Hypertriglycéridémie (génétique)</term>
<term>Hypertriglycéridémie (étiologie)</term>
<term>Hérédité multifactorielle</term>
<term>Marqueurs biologiques (sang)</term>
<term>Mode de vie</term>
<term>Promotion de la santé</term>
<term>Prédisposition génétique à une maladie</term>
<term>Triglycéride (sang)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Biomarkers</term>
<term>Triglycerides</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hypertriglyceridemia</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Hypertriglycéridémie</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Hypertriglyceridemia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hypertriglyceridemia</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Hypertriglycéridémie</term>
</keywords>
<keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Marqueurs biologiques</term>
<term>Triglycéride</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Hypertriglyceridemia</term>
</keywords>
<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Hypertriglycéridémie</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Animals</term>
<term>Combined Modality Therapy</term>
<term>Genetic Predisposition to Disease</term>
<term>Health Promotion</term>
<term>Humans</term>
<term>Life Style</term>
<term>Multifactorial Inheritance</term>
<term>Practice Guidelines as Topic</term>
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<term>Association thérapeutique</term>
<term>Guides de bonnes pratiques cliniques comme sujet</term>
<term>Humains</term>
<term>Hypertriglycéridémie</term>
<term>Hérédité multifactorielle</term>
<term>Mode de vie</term>
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<front><div type="abstract" xml:lang="en">Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a monogenic cause; and mild-to-moderate (triglyceride concentration 2-10 mmol/L). Because of clustering of susceptibility alleles and secondary factors in families, biochemical screening and counselling for family members is essential, but routine genetic testing is not warranted. Treatment includes management of lifestyle and secondary factors, and pharmacotherapy. In severe hypertriglyceridaemia, intervention is indicated because of pancreatitis risk; in mild-to-moderate hypertriglyceridaemia, intervention can be indicated to prevent cardiovascular disease, dependent on triglyceride concentration, concomitant lipoprotein disturbances, and overall cardiovascular risk.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24731657</PMID>
<DateCreated><Year>2014</Year>
<Month>09</Month>
<Day>03</Day>
</DateCreated>
<DateCompleted><Year>2015</Year>
<Month>12</Month>
<Day>14</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>09</Month>
<Day>22</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">2213-8595</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>2</Volume>
<Issue>8</Issue>
<PubDate><Year>2014</Year>
<Month>Aug</Month>
</PubDate>
</JournalIssue>
<Title>The lancet. Diabetes & endocrinology</Title>
<ISOAbbreviation>Lancet Diabetes Endocrinol</ISOAbbreviation>
</Journal>
<ArticleTitle>The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.</ArticleTitle>
<Pagination><MedlinePgn>655-66</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/S2213-8587(13)70191-8</ELocationID>
<ELocationID EIdType="pii" ValidYN="Y">S2213-8587(13)70191-8</ELocationID>
<Abstract><AbstractText>Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a monogenic cause; and mild-to-moderate (triglyceride concentration 2-10 mmol/L). Because of clustering of susceptibility alleles and secondary factors in families, biochemical screening and counselling for family members is essential, but routine genetic testing is not warranted. Treatment includes management of lifestyle and secondary factors, and pharmacotherapy. In severe hypertriglyceridaemia, intervention is indicated because of pancreatitis risk; in mild-to-moderate hypertriglyceridaemia, intervention can be indicated to prevent cardiovascular disease, dependent on triglyceride concentration, concomitant lipoprotein disturbances, and overall cardiovascular risk.</AbstractText>
<CopyrightInformation>Copyright © 2014 Elsevier Ltd. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hegele</LastName>
<ForeName>Robert A</ForeName>
<Initials>RA</Initials>
<AffiliationInfo><Affiliation>Department of Medicine, Western University, London, ON, Canada. Electronic address: hegele@robarts.ca.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ginsberg</LastName>
<ForeName>Henry N</ForeName>
<Initials>HN</Initials>
<AffiliationInfo><Affiliation>Irving Institute for Clinical and Translational Research, Columbia University, New York, NY, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Chapman</LastName>
<ForeName>M John</ForeName>
<Initials>MJ</Initials>
<AffiliationInfo><Affiliation>Dyslipidaemia and Atherosclerosis Research Unit, INSERM U939, Pitié-Salpêtrière University Hospital, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nordestgaard</LastName>
<ForeName>Børge G</ForeName>
<Initials>BG</Initials>
<AffiliationInfo><Affiliation>Department of Diagnostic Sciences, Herlev Hospital, University of Copenhagen, Denmark.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kuivenhoven</LastName>
<ForeName>Jan Albert</ForeName>
<Initials>JA</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Genetics, University Medical Center Groningen, University of Groningen, Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Averna</LastName>
<ForeName>Maurizio</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Internal Medicine, University of Palermo, Palermo, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Borén</LastName>
<ForeName>Jan</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Strategic Research Center, Sahlgrenska Center for Cardiovascular and Metabolic Research, University of Gothenburg, Gothenburg, Sweden.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bruckert</LastName>
<ForeName>Eric</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Department of Endocrinology and Metabolism, Endocrinology and Cardiovascular Disease Prevention, Hôpital Pitié-Salpêtrière, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Catapano</LastName>
<ForeName>Alberico L</ForeName>
<Initials>AL</Initials>
<AffiliationInfo><Affiliation>Department of Pharmacological Sciences, University of Milan and Multimedica IRCSS, Milan, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Descamps</LastName>
<ForeName>Olivier S</ForeName>
<Initials>OS</Initials>
<AffiliationInfo><Affiliation>Centre de Recherche Médicale, Lipid Clinic, Hopital de Jolimont, Haine Saint-Paul, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hovingh</LastName>
<ForeName>G Kees</ForeName>
<Initials>GK</Initials>
<AffiliationInfo><Affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Humphries</LastName>
<ForeName>Steve E</ForeName>
<Initials>SE</Initials>
<AffiliationInfo><Affiliation>Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kovanen</LastName>
<ForeName>Petri T</ForeName>
<Initials>PT</Initials>
<AffiliationInfo><Affiliation>Wihuri Research Institute, Helsinki, Finland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Masana</LastName>
<ForeName>Luis</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Vascular Medicine and Metabolism Unit, Sant Joan University Hospital, Universitat Rovira & Virgili, IISPV, CIBERDEM, Reus, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Pajukanta</LastName>
<ForeName>Päivi</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Parhofer</LastName>
<ForeName>Klaus G</ForeName>
<Initials>KG</Initials>
<AffiliationInfo><Affiliation>Department of Endocrinology and Metabolism, University of Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Raal</LastName>
<ForeName>Frederick J</ForeName>
<Initials>FJ</Initials>
<AffiliationInfo><Affiliation>Division of Endocrinology and Metabolism, Director of the Carbohydrate and Lipid Metabolism Research Unit, University of the Witwatersrand, Johannesburg, South Africa.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ray</LastName>
<ForeName>Kausik K</ForeName>
<Initials>KK</Initials>
<AffiliationInfo><Affiliation>Cardiovascular Sciences Research Centre, St George's Hospital NHS Trust, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Santos</LastName>
<ForeName>Raul D</ForeName>
<Initials>RD</Initials>
<AffiliationInfo><Affiliation>Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Stalenhoef</LastName>
<ForeName>Anton F H</ForeName>
<Initials>AF</Initials>
<AffiliationInfo><Affiliation>Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Stroes</LastName>
<ForeName>Erik</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Taskinen</LastName>
<ForeName>Marja-Riitta</ForeName>
<Initials>MR</Initials>
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<country name="Brésil"><region name="État de São Paulo"><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name>
</region>
</country>
<country name="Australie"><noRegion><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    PubMed
   |étape=   Checkpoint
   |type=    RBID
   |clé=     pubmed:24731657
   |texte=   The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.
}}

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       | NlmPubMed2Wicri -a AustralieFrV1

This area was generated with Dilib version V0.6.33.
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	Serveur d'exploration sur les relations entre la France et l'Australie
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Serveur d'exploration sur les relations entre la France et l'Australie

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

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Abstract

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