In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in <i>MTTP</i> explain only part of LDL variability in an FH family.

Winther, Michael; Shpitzen, Shoshi; Yaacov, Or; Landau, Jakob; Oren, Limor; Foroozan-Rosenberg, Linda; Lev Cohain, Naama; Schurr, Daniel; Meiner, Vardiela; Szalat, Auryan; Carmi, Shai; Hayden, Michael R; Leitersdorf, Eran; Durst, Ronen

In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family.

Winther, Michael; Shpitzen, Shoshi; Yaacov, Or; Landau, Jakob; Oren, Limor; Foroozan-Rosenberg, Linda; Lev Cohain, Naama; Schurr, Daniel; Meiner, Vardiela; Szalat, Auryan; Carmi, Shai; Hayden, Michael R; Leitersdorf, Eran; Durst, Ronen.

Afiliação

Winther M; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada.
Shpitzen S; Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Yaacov O; Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Landau J; Hebrew University-Hadassah Braun School of Public Health and Community Medicine, Jerusalem, Israel.
Oren L; Hebrew University-Hadassah Braun School of Public Health and Community Medicine, Jerusalem, Israel.
Foroozan-Rosenberg L; Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Lev Cohain N; Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Schurr D; Radiology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Meiner V; Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Szalat A; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Carmi S; Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Hayden MR; Internal Medicine Ward, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Leitersdorf E; Hebrew University-Hadassah Braun School of Public Health and Community Medicine, Jerusalem, Israel.
Durst R; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada.

J Lipid Res ; 60(10): 1733-1740, 2019 10.

Article em En | MEDLINE | ID: mdl-31387896

Assuntos

Proteínas de Transporte/genética; LDL-Colesterol/sangue; Hiperlipoproteinemia Tipo II/sangue; Hiperlipoproteinemia Tipo II/genética; Mutação; Linhagem; Polimorfismo de Nucleotídeo Único; Adulto; Animais; Células COS; Proteínas de Transporte/metabolismo; Chlorocebus aethiops; Feminino; Ligação Genética; Células Hep G2; Humanos; Masculino

Palavras-chave

cholesterol metabolism; diseases/dyslipidemia; familial hypercholesterolemia; gene expression/polymorphisms; genes in lipid dysfunction; genetics; low density lipoprotein; low density lipoprotein cholesterol; low density lipoprotein/assembly; microsomal triglyceride transfer protein; single nucleotide polymorphism

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linhagem / Proteínas de Transporte / Polimorfismo de Nucleotídeo Único / Hiperlipoproteinemia Tipo II / LDL-Colesterol / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Revista: J Lipid Res Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Canadá

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