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Frederick E Dewey, Viktoria Gusarova, Colm O'Dushlaine, Omri Gottesman, Jesus Trejos, Charleen Hunt, Cristopher V Van Hout, Lukas Habegger, David Buckler, Ka-Man V Lai, Joseph B Leader, Michael F Murray, Marylyn D Ritchie, H Lester Kirchner, David H Ledbetter, John Penn, Alexander Lopez, Ingrid B Borecki, John D Overton, Jeffrey G Reid, David J Carey, Andrew J Murphy, George D Yancopoulos, Aris Baras, Jesper Gromada, Alan R Shuldiner
BACKGROUND: Higher-than-normal levels of circulating triglycerides are a risk factor for ischemic cardiovascular disease. Activation of lipoprotein lipase, an enzyme that is inhibited by angiopoietin-like 4 (ANGPTL4), has been shown to reduce levels of circulating triglycerides. METHODS: We sequenced the exons of ANGPTL4 in samples obtain from 42,930 participants of predominantly European ancestry in the DiscovEHR human genetics study. We performed tests of association between lipid levels and the missense E40K variant (which has been associated with reduced plasma triglyceride levels) and other inactivating mutations...
March 24, 2016: New England Journal of Medicine
Mercedes Martinez, Susan Brodlie, Adam Griesemer, Tomoaki Kato, Patricia Harren, Bruce Gordon, Thomas Parker, Daniel Levine, Theodore Tyberg, Thomas Starc, Iksung Cho, James Min, Kimberly Elmore, Steven Lobritto, Lisa Cooper Hudgins
Homozygous familial hypercholesterolemia (HoFH) is a rare, inherited, life-threatening, metabolic disorder of low-density lipoprotein (LDL) receptor function characterized by elevated serum LDL cholesterol (LDL-C) and rapidly progressive atherosclerotic cardiovascular disease (ACVD). Since LDL receptors are predominantly found on hepatocytes, orthotopic liver transplantation (OLT) has emerged as a viable intervention for HoFH because LDL receptor activity is restored. This study assessed the effects of OLT on ACVD and ACVD risk factors in pediatric patients with HoFH...
August 15, 2016: American Journal of Cardiology
Amanda M Perak, Hongyan Ning, Sarah D de Ferranti, Holly C Gooding, John T Wilkins, Donald M Lloyd-Jones
BACKGROUND: Heterozygous familial hypercholesterolemia (FH) affects up to 1 in 200 individuals in the United States, but atherosclerotic cardiovascular disease (ASCVD) outcomes of FH in the general US population have not been described. We therefore sought to evaluate long-term coronary heart disease (CHD) and total ASCVD risks in US adults with an FH phenotype. METHODS: Using individual pooled data from 6 large US epidemiological cohorts, we stratified participants by low-density lipoprotein cholesterol level at index ages from 20 to 79 years...
July 5, 2016: Circulation
Marian McDonagh, Kim Peterson, Brittany Holzhammer, Sergio Fazio
BACKGROUND: The proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors are a new class of cholesterol-lowering medications that provide significant reductions in lipids but at a large cost relative to statins. With 2 such drugs now on the market, alirocumab and evolocumab, comparing the evidence base for these drugs is necessary for informed decision making. OBJECTIVE: To compare the benefits and harms of the PCSK9 inhibitors alirocumab and evolocumab...
June 2016: Journal of Managed Care & Specialty Pharmacy
Naotaka Ohta, Mika Hori, Atsushi Takahashi, Masatsune Ogura, Hisashi Makino, Tamiko Tamanaha, Hiromi Fujiyama, Yoshihiro Miyamoto, Mariko Harada-Shiba
BACKGROUND: Familial hypercholesterolemia (FH) is caused by mutations in the genes encoding low-density lipoprotein receptor (LDLR), apolipoprotein B, or proprotein convertase subtilisin/kexin 9 (PCSK9). However, FH shows variability of the clinical phenotype modified by other genetic variants or environmental factors. OBJECTIVE: Our objective was to determine the distribution of PCSK9 variants in Japanese FH heterozygotes and to clarify whether those variants and the combination of those variants and LDLR mutations modify the clinical phenotypes...
May 2016: Journal of Clinical Lipidology
Hagai Tavori, Ilaria Giunzioni, Irene M Predazzi, Deanna Plubell, Anna Shivinsky, Joshua Miles, Rachel M Devay, Hong Liang, Shirya Rashid, MacRae F Linton, Sergio Fazio
AIMS: Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes the degradation of hepatic low-density lipoprotein (LDL) receptors (LDLR), thereby, decreasing hepatocyte LDL-cholesterol (LDL-C) uptake. However, it is unknown whether PCSK9 has effects on atherogenesis that are independent of lipid changes. The present study investigated the effect of human (h) PCSK9 on plasma lipids, hepatic lipogenesis, and atherosclerotic lesion size and composition in transgenic mice expressing hPCSK9 (hPCSK9tg) on wild-type (WT), LDLR⁻/⁻, or apoE⁻/⁻ background...
May 15, 2016: Cardiovascular Research
Salam Ibrahim, Suryanarayan Somanathan, Jeffrey Billheimer, James M Wilson, Daniel J Rader
AIMS: IDOL (inducible degrader of the low-density lipoprotein receptor, LDLR) is an E3 ubiquitin ligase that promotes the ubiquitination and degradation of the LDLR. IDOL is a potential therapeutic target for the development of a novel class of low-density lipoprotein cholesterol (LDL-C)-lowering therapies. In an attempt to develop a mouse model for testing IDOL inhibitors, we examined the effects of adeno-associated virus (AAV)-mediated stable expression of human IDOL in the livers of mice 'humanized' with regard to lipoprotein metabolism...
May 1, 2016: Cardiovascular Research
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