Genomes and Genes
- The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosisM Arca
Istituto di Terapia Medica Sistematica, Universita di Roma, La Sapienza, Italy
Clin Genet 58:369-74. 2000..None of LPL variants was a significant predictor of angiographically assessed coronary atherosclerosis. At most, the risk was borderline, increased in N291S carriers and possibly decreased in S447X carriers...
- Increased plasma levels of oxysterols, in vivo markers of oxidative stress, in patients with familial combined hyperlipidemia: reduction during atorvastatin and fenofibrate therapyMarcello Arca
Department of Clinical and Applied Medical Therapy, University La Sapienza, 00161 Rome, Italy
Free Radic Biol Med 42:698-705. 2007..More research work is needed to understand the clinical meaning of these findings, which may help to understand the role of oxidative stress in FCHL and lipid-lowering therapy...
- Treating statin-intolerant patientsMarcello Arca
Atherosclerosis Unit, Department of Internal Medicine and Allied Medical Specialities, Sapienza University of Rome, Rome, Italy
Diabetes Metab Syndr Obes 4:155-66. 2011..However, the cardiovascular benefit of these strategies has not been well established, so their use has to be guided by a careful clinical assessment of each patient...
- Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathyAndrea Natali
Department of Internal Medicine, University of Pisa, 56100 Pisa, Italy
J Clin Endocrinol Metab 98:E1540-8. 2013..The role of adipose triglyceride lipase (ATGL) in intermediate substrates metabolism has not been fully elucidated in humans...
- The angiopoietin-like protein 3: a hepatokine with expanding role in metabolismMarcello Arca
Dipartimento di Medicina, Interna e Specialità Mediche Sapienza Università di Roma, Rome, Italy
Curr Opin Lipidol 24:313-20. 2013..In this review, we discuss the recent developments in understanding the specific role in metabolic processes of the liver-derived ANGPTL3...
- Mechanisms of diabetic dyslipidemia: relevance for atherogenesisMarcello Arca
Dipartimento di Medicina Interna e Specialita Mediche, Sapienza Università di Roma Viale del Policlinico, 155 00161 Rome, Italy
Curr Vasc Pharmacol 10:684-6. 2012..The consequences of atherogenic dyslipidemia on mechanisms of atherogenesis will be also reviewed...
- Management of statin-intolerant patientM Arca
Atherosclerosis Unit, Department of Internal Medicine and Allied Medical Specialities, La Sapienza University, Rome, Italy
Panminerva Med 54:105-18. 2012..However, the cardiovascular benefit of these approaches has not been established, so that their use has to be employed after a careful clinical assessment of each patient...
- Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associates with clinical outcomes in patients with established CADMarco G Baroni
Department of Clinical Sciences, Division of Endocrinology, University of Rome La Sapienza, Italy
BMC Med Genet 4:8. 2003..Furthermore, an 8 years prospective analysis of clinical cardiovascular events was related to the various genetic markers...
- Usefulness of atherogenic dyslipidemia for predicting cardiovascular risk in patients with angiographically defined coronary artery diseaseMarcello Arca
Department of Clinical and Medical Therapy, Unit of Medical Therapy, Io Medical School, La Sapienza University of Rome, Rome, Italy
Am J Cardiol 100:1511-6. 2007..21, p = 0.008). In conclusion, these data provide evidence that atherogenic dyslipidemia is an independent predictor of cardiovascular risk in patients with CAD, even stronger than isolated high triglycerides or low HDL cholesterol...
- Comparison of atorvastatin versus fenofibrate in reaching lipid targets and influencing biomarkers of endothelial damage in patients with familial combined hyperlipidemiaMarcello Arca
Unit of Medical Therapy, Department of Clinical and Medical Therapy, University La Sapienza, Rome, Italy
Metabolism 56:1534-41. 2007....
- Atorvastatin: a safety and tolerability profileMarcello Arca
Department of Clinical and Therapeutic Medicine, La Sapienza University of Rome, Rome, Italy
Drugs 67:63-9. 2007..Thus, atorvastatin is a safe and well tolerated statin for use in a wide range of patients...
- Atorvastatin efficacy in the primary and secondary prevention of cardiovascular eventsMarcello Arca
Department of Clinical and Therapeutic Medicine, La Sapienza University of Rome, Rome, Italy
Drugs 67:29-42. 2007....
- Atorvastatin efficacy in the prevention of cardiovascular events in patients with diabetes mellitus and/or metabolic syndromeMarcello Arca
Department of Clinical and Therapeutic Medicine, La Sapienza University of Rome, Rome, Italy
Drugs 67:43-54. 2007....
- Lack of association of the common TaqIB polymorphism in the cholesteryl ester transfer protein gene with angiographically assessed coronary atherosclerosisM Arca
Istituto di Terapia Medica Sistematica, Universita degli Studi di Roma La Sapienza, Italy
Clin Genet 60:374-80. 2001..Our findings do not support the hypothesis that a genetic variant resulting in lowered CETP activity is associated with reduced risk of coronary atherosclerosis...
- PON1 L55M polymorphism is not a predictor of coronary atherosclerosis either alone or in combination with Q192R polymorphism in an Italian populationM Arca
Universita degli Studi di Roma La Sapienza, Rome, Italy
Eur J Clin Invest 32:9-15. 2002..The present study evaluated the role of the PON1 L55M polymorphism independently and in conjunction with the Q192R polymorphism on the risk of coronary atherosclerosis in an Italian population...
- Functional rs20417 SNP (-765G>C) of cyclooxygenase-2 gene does not predict the risk of recurrence of ischemic events in coronary patients: results of a 7-year prospective studyAnna Montali
Department of Clinical and Medical Therapy, Atherosclerosis Unit, Lipid Clinic Center of La Sapienza University of Rome, Rome, Italy
Cardiology 115:236-42. 2010..Therefore, this genetic variant may be a candidate influencing the residual risk...
- C242T polymorphism of NADPH oxidase p22phox and recurrence of cardiovascular events in coronary artery diseaseMarcello Arca
Department of Clinical and Medical Therapy, Unit of Medical Therapy, La Sapienza University, Rome, Italy
Arterioscler Thromb Vasc Biol 28:752-7. 2008..The common C242T polymorphism in the gene for the p22phox subunit of NADPH oxidase has been reported to be negatively associated with oxidative stress, but whether it confers prognostic information is not yet clear...
- Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemiaLuisa Nanni
Department of Clinical and Medical Therapy, Unit of Atherosclerosis, University of Rome La Sapienza, Italy
Atherosclerosis 213:206-11. 2010..This study was designed to evaluate whether selected PNPLA2 variants may influence the susceptibility to FCHL or its lipid-related traits...
- Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterizationIlenia Minicocci
Department of Internal Medicine and Medical Specialties, Atherosclerosis Unit, Sapienza University of Rome, 00161 Rome, Italy
J Clin Endocrinol Metab 97:E1266-75. 2012..Familial combined hypolipidemia causes a global reduction of plasma lipoproteins. Its clinical correlates and metabolic implications have not been well defined...
- Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screeningFilomena Campagna
Department of Clinical and Applied Medical Therapy, Unit of Medical Therapy, University of Rome La Sapienza, Rome, Italy
Atherosclerosis 196:356-64. 2008..9 mmol/L was the best cut off value for diagnosing FH in these children, showing 79% sensitivity and 71.0% specificity. We propose the use of a LDL-C cut off level associated with a family study to identify FH among HC children...
- The adiponectin gene SNP+276G>T associates with early-onset coronary artery disease and with lower levels of adiponectin in younger coronary artery disease patients (age <or=50 years)Emanuela Filippi
Department of Clinical Sciences, Division of Endocrinology, Policlinico Umberto I, University of Rome La Sapienza, 00161 Rome, Italy
J Mol Med (Berl) 83:711-9. 2005....
- Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysisIlenia Minicocci
Departments of Internal Medicine and Medical Specialties, Sapienza University of Rome, Rome, Italy
J Lipid Res 54:3481-90. 2013..Furthermore, our analysis confirmed that FHBL2 is not associated with adverse clinical sequelae. The possibility that FHBL2 confers lower risk of diabetes and cardiovascular disease warrants more detailed investigation. ..
- Atorvastatin: its clinical role in cerebrovascular preventionAchille Gaspardone
Cardiology Department, Ospedale S Eugenio, Rome, Italy
Drugs 67:55-62. 2007....
- Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperliFilomena Campagna
Dipartimento di Terapia Medica, Universita degli Studi di Roma La Sapienza, Rome, Italy
Metabolism 51:1298-305. 2002..Conversely, genetic variants in the IRS-1, FABP-2, and the beta3-AR gene appear not to have a major role as modifier genes in FCHL...
- The gln-Arg192 polymorphism of human paraoxonase gene is not associated with coronary artery disease in italian patientsD Ombres
Istituto di Terapia Medica Sistematica, II Cattedra di Cardiologia and Istituto di Chirurgia del Cuore e dei Grossi Vasi, Universita di Roma La Sapienza, Italy
Arterioscler Thromb Vasc Biol 18:1611-6. 1998..However, it did confirm that the PON1 low-activity allele is associated with a less atherogenic lipid profile...
- Circulating miR-33a and miR-33b are up-regulated in familial hypercholesterolaemia in paediatric ageFrancesco Martino
Center of Clinic Lipid Research, Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, Italy
Clin Sci (Lond) 129:963-72. 2015..05 respectively). Although it is only explorative, the present study could be the first to point to the use of miR-33a and miR-33b as early biomarkers for cholesterol levels in childhood, once validated in independent larger cohorts. ..
- Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approachIlenia Minicocci
Department of Internal Medicine and Allied Sciences, Unit of Atherosclerosis and Lipid Disorders, Sapienza University of Rome, Rome, Italy
Atherosclerosis 242:618-24. 2015..However, their contribution might have been influenced by diagnostic criteria. This study was aimed to reassess the frequency of rare and common variants in LDLR and LPL in FCHL individuals classified with stringent criteria...
- Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH geneFabiana Quagliarini
Department of Clinical and Medical Therapy, Unit of Medical Therapy, Sapienza University of Rome, Policlinico Umberto, I Viale del Policlinico 155, 00161 Rome, Italy
Mol Genet Metab 92:243-8. 2007..No protein product was detected in affected individuals by immunoblot analysis. This novel mutation adds new support to the molecular heterogeneity of ARH in the Mediterranean basin...
- The common PPAR-gamma2 Pro12Ala variant is associated with greater insulin sensitivityRaffaella Buzzetti
Endocrinology, Department of Clinical Sciences, University of Rome La Sapienza, Rome, Italy
Eur J Hum Genet 12:1050-4. 2004..Our observations substantially extend previous findings and demonstrated that X12Ala variant is significantly associated with greater insulin sensitivity...
- The relationship between metabolic syndrome, its components, and the whole-body atherosclerotic disease burden as measured by computed tomography angiographyGiovanni Pigna
Department of Medicine and Medical Specialities, Unit of Atherosclerosis, Sapienza University of Rome, Rome, Italy
Atherosclerosis 215:417-20. 2011..Quantify the whole-body atherosclerotic disease in asymptomatic subjects with and without metabolic syndrome (MetS) and to assess the contribution of the syndrome and its components to the atherosclerotic burden...
- Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin geneFilomena Campagna
Department of Clinical and Applied Medical Therapy, University of Rome, La Sapienza, Italy
Clin Chem 51:1256-8. 2005
- Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathyFilomena Campagna
Department of Clinical and Therapeutic Medicine, Universita di Roma La Sapienza, 00161 Rome, Italy
Biochem Biophys Res Commun 377:843-6. 2008..L255X and p.I212X, respectively). These mutations predict a truncated PNPLA2 protein lacking the C-terminal hydrophobic domain. These findings indicate that NLSDM is rare, but genetically heterogeneous...
- 99mTc-interleukin-2 scintigraphy for the in vivo imaging of vulnerable atherosclerotic plaquesAlessio Annovazzi
Nuclear Medicine, 2nd Faculty of Medicine, University La Sapienza, Rome, Italy
Eur J Nucl Med Mol Imaging 33:117-26. 2006....
- Angiotensin-converting enzyme gene polymorphism is not associated with coronary atherosclerosis and myocardial infarction in a sample of Italian patientsM Arca
Istituto di Terapia Medica Sistematica, Universita di Roma La Sapienza, Italy
Eur J Clin Invest 28:485-90. 1998..However, the relationships between ACE genotypes, the development of coronary atherosclerosis and the occurrence of major coronary events are still controversial...
- Atherogenic dyslipidemia in children: evaluation of clinical, biochemical and genetic aspectsAnna Montali
Department of Internal Medicine and Allied Sciences, Atherosclerosis Unit, Sapienza University of Rome, Rome, Italy
PLoS ONE 10:e0120099. 2015..LPL variants may contribute to the development of AD phenotype...
- Association of the human adiponectin gene and insulin resistanceEmanuela Filippi
1Department of Clinical Sciences, Division of Endocrinology, University of Rome La Sapienza, Rome, Italy
Eur J Hum Genet 12:199-205. 2004..In particular, among leaner individuals, the adiponectin gene appears to determine an increased risk to develop insulin resistance...
- A common mutation of the insulin receptor substrate-1 gene is a risk factor for coronary artery diseaseM G Baroni
Istituto di II Clinica Medica, University of Rome La Sapienza, Policlinico Umberto I, Rome, Italy
Arterioscler Thromb Vasc Biol 19:2975-80. 1999..Besides the increased frequency of diabetes, carriers showed a more atherogenic lipid profile, suggesting a potential role of the IRS-1 gene in the pathogenesis of lipid abnormalities associated with CAD...
- The G972R variant of the insulin receptor substrate-1 (IRS-1) gene, body fat distribution and insulin-resistanceM G Baroni
Department of Clinical Science, Division of Endocrinology, University of Rome La Sapienza, Rome, Italy
Diabetologia 44:367-72. 2001..By investigating the relation between this IRS-1 mutation, measures of obesity and metabolic parameters, we explored the possible influence of this mutation on body fat distribution and insulin resistance...
- Subclinical atherosclerosis in systemic lupus erythematosus and antiphospholipid syndrome: focus on β2GPI-specific T cell responseFabrizio Conti
From the Rheumatology Unit F C, F R S, C A, F C, E M, G V, Atherosclerosis Unit A M, M A, and Internal Medicine D M P, Department of Internal Medicine and Medical Specialties and Department of Experimental Medicine A C, M S, Sapienza University of Rome, Rome, Italy and Department of Infectious, Parasitic, and Immune Mediated Diseases, Istituto Superiore di Sanita, Rome, Italy B B, E P, R R
Arterioscler Thromb Vasc Biol 34:661-8. 2014..We evaluated early atherosclerosis in patients with SLE and APS and investigated T cell reactivity to β2GPI and its relationship with atherosclerotic process...
- Human resistin gene, obesity, and type 2 diabetes: mutation analysis and population studyFederica Sentinelli
Department of Clinical Sciences, Division of Endocrinology, University of Rome La Sapienza, Rome, Italy
Diabetes 51:860-2. 2002..In conclusion, our data suggest that genetic defects of the resistin gene are unlikely to play a role in the etiology of these common disorders in our population...
- Comparison between an empirically derived model and the EuroSCORE system in the evaluation of hospital performance: the example of the Italian CABG Outcome ProjectPaola D'Errigo
National Centre of Epidemiology, Surveillance and Health Promotion Istituto Superiore di Sanità, Rome, Italy
Eur J Cardiothorac Surg 33:325-33. 2008..To compare the risk-adjustment model empirically derived from the 'Italian CABG Outcome Project' with that of the additive and logistic EuroSCORE in terms of accuracy, predictive power and ability to rank hospital performances...
- A polymorphism in the cyclooxygenase 2 gene as an inherited protective factor against myocardial infarction and strokeFrancesco Cipollone
G d Annunzio University of Chieti and G d Annunzio University Foundation, Chieti, Italy
JAMA 291:2221-8. 2004..Although COX-2 expression may be genetically determined, the relation between COX-2 polymorphisms and the risk of MI and stroke is unclear...
- Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparisonLivia Pisciotta
Department of Internal Medicine, University of Genoa, Vaile Benedetto XV 6, I 16132 Genoa, Italy
Atherosclerosis 188:398-405. 2006..In conclusion the clinical phenotype of ARH is milder than that of receptor-negative HoFH and resembles that observed in receptor-defective HoFH...
- The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian familiesLaura Calabresi
Center E Grossi Paoletti, Department of Pharmacological Sciences, University of Milano, 20133 Milan, Italy
Arterioscler Thromb Vasc Biol 25:1972-8. 2005..To better understand the role of lecithin:cholesterol acyltransferase (LCAT) in lipoprotein metabolism through the genetic and biochemical characterization of families carrying mutations in the LCAT gene...
- Clinical and genetic characterization of Chanarin-Dorfman syndromeClaudio Bruno
Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy
Biochem Biophys Res Commun 369:1125-8. 2008..Molecular analysis identified five mutations, three of which are novel. These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease...
- Interleukin-1 gene cluster polymorphisms and risk of coronary artery diseaseBranislav Vohnout
Angela Valenti Laboratory of Genetic and Environmental Risk Factors for Thrombotic Disease, Consorzio Mario Negri Sud, Via Nazionale 1, 66030 Santa Maria Imbaro, Italy
Haematologica 88:54-60. 2003..Several genetic polymorphisms have been described in the genes of the IL-1 cluster and associations with coronary artery disease (CAD) have been reported, although with contrasting results...
- Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysisMarcello Arca
Department of Medical Therapy, University of Rome La Sapienza, Italy
Lancet 359:841-7. 2002..Our aim was to ascertain why ARH is more common on Sardinia than elsewhere...
- Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemiaMaria Del Ben
Am J Med 117:803-4. 2004
- Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytesMaria Isabella Sirinian
Department of Clinical and Applied Medical Therapy, University of Rome La Sapienza, Italy
J Biol Chem 280:38416-23. 2005..We suggest that ARH is an endocytic sorting adaptor that actively participates in the internalization of the LDL-LDLR complex, possibly enhancing the efficiency of its packaging into the endocytic vesicles...