Research Topics
Genomes and Genes | M MargaglioneSummaryAffiliation: San Giovanni Rotondo Country: Italy Publications
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Publications
Genetic studies in complex diseaseM Margaglione
Unita' di Aterosclerosi e Trombosi, I.R.C.C.S. 'Casa Sollievo della Sofferenza, S. Giovanni Rotondo; and Genetica Medica, , Italy
J Thromb Haemost 2:343-4. 2004- Inherited thrombophilic risk factors in a large cohort of individuals referred to Italian thrombophilia centers: distinct roles in different clinical settingsM Margaglione
Unità di Aterosclerosi e Trombosi IRCCS Casa Sollievo della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy
Haematologica 86:634-9. 2001..Despite inherited thrombophilic risk factors being strongly associated with vein thrombosis, decisions on whether to screen subjects for these factors vary in different clinical settings... - Does endothelial nitric oxide synthase gene variation play a role in the occurrence of hypertension in pregnancy?Elvira Grandone
Atherosclerosis and Thrombosis Unit, Division of Obstetrics and Gynaecology, I R C C S, Casa Sollievo della Sofferenza, S Giovanni Rotondo FG, Italy
Hypertens Pregnancy 22:149-55. 2003..Nitric oxide is suggested to play a role in the development of preeclampsia... - A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni RotondoM Margaglione
Unita di Aterosclerosi e Trombosi, IRCCS Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
Thromb Haemost 86:1483-8. 2001..contained substantial amounts of albumin. Present findings confirm that truncated Aalpha-chain lacking part of the terminal domain may be incorporated into mature fibrinogen molecules and normally secreted in the bloodstream... - The effect of the interleukin-6 c/g-174 polymorphism and circulating interleukin-6 on fibrinogen plasma levelsM Margaglione
Unita di Aterosclerosi e Trombosi, IRCCS Casa Sollievo della Sofferenza, Viale Cappuccini, San Giovanni Rotondo, 71013 Foggia, Italy
Haematologica 86:199-204. 2001..Interleukin-6 (IL-6) strongly regulates the production of C-RP. A polymorphism (C/G-174) within the IL-6 gene has been shown to affect IL-6 gene expression and plasma concentrations... - Genetic modulation of oral anticoagulation with warfarinM Margaglione
Unita di Aterosclerosi e Trombosi, IRCCS Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
Thromb Haemost 84:775-8. 2000..The incidence of bleeding complications in CYP2C9*2 and CYP2C9*3 carriers was significantly higher than that in noncarriers and interacted with the presence of local bleeding sources... - Inherited thrombophilic risk factors and venous thromboembolism: distinct role in peripheral deep venous thrombosis and pulmonary embolismM Margaglione
Unita di Aterosclerosi e Trombos, Istituto di Ricovera e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
Chest 118:1405-11. 2000..To investigate whether the FII A(20210) mutation is associated with isolated pulmonary embolism (PE)... - FV HR2 haplotype as additional inherited risk factor for deep vein thrombosis in individuals with a high-risk profileMaurizio Margaglione
Unita di Aterosclerosi e Trombosi, IRCCS Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
Thromb Haemost 87:32-6. 2002..8 (95% CI: 1.1-2.8). Present data indicate that the HR2 haplotype is independently associated with vein thrombosis among individuals with a high-risk profile... - Preventing adverse obstetric outcomes in women with genetic thrombophiliaElvira Grandone
Atherosclerosis and Thrombosis Unit, Casa Sollievo della Sofferenza, S Giovanni R FOGGIA, Italy
Fertil Steril 78:371-5. 2002..To improve fetomaternal outcomes in women with obstetric complications and inherited causes of thrombophilia... - Coexistence of factor V Leiden and Factor II A20210 mutations and recurrent venous thromboembolismM Margaglione
Unita di Aterosclerosi e Trombosi, I R C C S Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
Thromb Haemost 82:1583-7. 1999.... - C-reactive protein in offspring is associated with the occurrence of myocardial infarction in first-degree relativesM Margaglione
Unita di Aterosclerosi e Trombosi, IRCCS Casa Sollievo della Sofferenza CSS, S Giovanni Rotondo, and Istituto di Medicina Interna e Geriatria, Palermo, Italy
Arterioscler Thromb Vasc Biol 20:198-203. 2000..05 to 2.91) were all independently associated with a positive family history of myocardial infarction. We therefore conclude that raised levels of CRP independently identify the offspring of patients with a myocardial infarction... 
Risk of obstetric and thromboembolic complications in family members of women with previous adverse obstetric outcomes carrying common inherited thombophiliasM Villani
Atherosclerosis and Thrombosis Unit, I R C C S Casa Sollievo della Sofferenza, S Giovanni Rotondo, Foggia, Italy
J Thromb Haemost 10:223-8. 2012..It is not known whether family members of women with FV Leiden or PTm and previous obstetric complications have a higher risk of VTE or adverse obstetric outcomes...- Impact of common thrombophilias and JAK2 V617F on pregnancy outcomes in unselected Italian womenE Grandone
Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, S Giovanni Rotondo, Foggia, Italy
J Thromb Haemost 9:496-501. 2011..Although an association between thrombophilias and adverse pregnancy outcome has been shown, the influence of the most common inherited thrombophilias and the somatic mutation JAK2 V617F in determining an adverse outcome is questioned... - The M2 haplotype in the ANXA5 gene is an independent risk factor for idiopathic small-for-gestational age newbornsG Tiscia
Atherosclerosis and Thrombosis Unit, I R C C S Casa Sollievo della Sofferenza, S Giovanni Rotondo, Foggia, Italy
Mol Hum Reprod 18:510-3. 2012..029; OR = 2.6, 95% CI (1.1-6.0)]. In conclusion, the M2 haplotype of the ANXA5 gene confers a risk of delivering SGA babies... - The JAK2 V617F mutation frequently occurs in patients with portal and mesenteric venous thrombosisD Colaizzo
Unita di Aterosclerosi e Trombosi, IRCCS Casa Sollievo della Sofferenza, S Giovanni Rotondo, Foggia, Italy
J Thromb Haemost 5:55-61. 2007..Myeloproliferative disorders (MPDs) represent a risk factor for thrombosis in the portal, mesenteric, and hepatic districts... - Low protein Z levels and risk of occurrence of deep vein thrombosisR Santacroce
Genetica Medica, , Foggia, and A. Cardarelli Hospital, Naples, Italy
J Thromb Haemost 4:2417-22. 2006..CONCLUSIONS: The present data suggest an association between very low PZ plasma levels and the occurrence of DVT, with PZ gene polymorphisms contributing little to this relationship... - A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicingM Margaglione
Unita di Aterosclerosi e Trombosi, IRCCS Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
Blood 96:2501-5. 2000..The current findings show that mutations within highly conserved IVS regions of fibrinogen genes could affect the efficiency of normal splicing, giving rise to congenital afibrinogenemia... - The PAI-1 gene locus 4G/5G polymorphism is associated with a family history of coronary artery diseaseM Margaglione
Unita di Aterosclerosi e Trombosi and Direzione Sanitaria, IRCCS Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
Arterioscler Thromb Vasc Biol 18:152-6. 1998..60). The PAI-1 4G/5G polymorphism to some extent thus accounts for the risk of CAD related to a family history for such an event. These findings support the hypothesis that the 4G variant is a transmissible coronary risk factor... - Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophiliaR Santacroce
Istituto di Genetica Medica, Dipartimento di Scienze Biomediche, , Foggia, Italy
Haemophilia 12:417-22. 2006.... - Age and homocysteine plasma levels are risk factors for thrombotic complications after ovarian stimulationE Grandone
Unita di Aterosclerosi e Trombosi, IRCCS Casa Sollievo della Sofferenza, S Giovanni R FOGGIA, Viale Padre Pio, 71013, Italy
Hum Reprod 19:1796-9. 2004..We calculated the magnitude of thrombotic risk in a cohort of women starting a new cycle of ovarian stimulation and investigated the role of inherited and acquired thrombophilia for these events... - [Anticoagulant prophylaxis in women affected by thrombophilia and previous obstetric complications]E Grandone
Unita di Aterosclerosi e Trombosi, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italia
Minerva Ginecol 60:431-6. 2008..This article is a review to most recent evidence of pregnant anticoagulant prophylaxis in women with previous thromboembolic events... - Factor XI deficiency: two novel mutations in asymptomatic Italian patientsM Tomaiuolo
Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, S Giovanni Rotondo, FG, Italy
Haemophilia 16:767-70. 2010..On the other hand, the compound heterozygosis might explain low FXI levels, but it is not associated with bleeding. Our data confirm that a severe FXI deficiency is not necessarily associated with bleeding... - Polymorphism of the angiotensin-converting enzyme gene in end-stage renal failure patientsF Aucella
Department of Nephrology and Dialysis, Casa Sollievo della Sofferenza, Hospital IRCCS, San Giovanni Rotondo, Italy
Nephron 85:54-9. 2000..A nonsignificant inverse relationship with the time spent on dialysis was observed, suggesting that ACE I/D polymorphism may influence the cardiovascular death rate... - A PC-1 amino acid variant (K121Q) is associated with faster progression of renal disease in patients with type 1 diabetes and albuminuriaS De Cosmo
Division and Research Unit of Endocrinology, Scientific Institute Casa Sollievo della Sofferenza, San Giovanni Rotondo FG, Italy
Diabetes 49:521-4. 2000..PC-1 genotyping identifies type 1 diabetic patients with a faster progression of diabetic nephropathy... - New epidemiological risk factors for venous thromboembolism (VTE) after menopauseE Grandone
Atherosclerosis and Thrombosis Unit, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni R. (FG, Italy
J Thromb Haemost 4:70. 2006 - Low-dose aspirin for in vitro fertilization or intracytoplasmic sperm injection: a systematic review and a meta-analysis of the literatureF Dentali
Department of Clinical Medicine, University of Insubria, Varese, Italy
J Thromb Haemost 10:2075-85. 2012..We therefore conducted a systematic review and meta-analysis of the literature investigating the effect of low-dose aspirin on hard outcomes, including live birth rate, pregnancy rate and miscarriage... - HLA class II favors clearance of HCV infection and progression of the chronic liver damageA Mangia
Division of Gastroenterology, Hospital Casa Sollievo della Sofferenza IRCCS, San Giovanni Rotondo, Italy
J Hepatol 30:984-9. 1999..This study was aimed to determine whether host-dependent genetic factors modulate the outcome of HCV infection... - Interaction between the C-260T polymorphism of the CD14 gene and the plasma IL-6 concentration on the risk of myocardial infarction: the HIFMECH studyP E Morange
Laboratoire d Hématologie CHU Timone, INSERM U626, 13385 Marseille Cedex 5, France
Atherosclerosis 179:317-23. 2005..02; CI 95 2.24-7.21), but not in C/C (OR: 0.75; CI 95 0.32-1.74, p=0.004 for interaction). The data indicate a role for CD14/C-260T in MI. The risk mediated by the polymorphism is highly dependent on IL-6 plasma levels... - More on: factor V Leiden and prothrombin G20210A polymorphisms as risk factors for miscarriage during a first-intended pregnancy: the matched case-control 'NOHA first' studyE Grandone
J Thromb Haemost 4:709-10. 2006 - A new vitamin K epoxide reductase complex subunit-1 (VKORC1) mutation in a patient with decreased stability of CYP2C9 enzymeA Cafolla
J Thromb Haemost 5:191-3. 2007 - Association of plasminogen activator inhibitor (PAI)-1 (SERPINE1) SNPs with myocardial infarction, plasma PAI-1, and metabolic parameters: the HIFMECH studyP E Morange
INSERM, U626, Universite de la Mediterranee, Marseille, France
Arterioscler Thromb Vasc Biol 27:2250-7. 2007.... - The G20210A prothrombin variant and the risk of venous thromboembolism or fetal loss in pregnant women: a family studyD Tormene
Department of Medical and Surgical Sciences, University of Padua Medical School, Padua, Italy
J Thromb Haemost 5:2193-6. 2007..However, because of the different design and sample sizes of these studies the estimated risks have varied... - Familial thrombophilia and the occurrence of fetal growth restrictionP Martinelli
Obstetrics and Gynecology Department of University Federico II, Naples, Italy
Haematologica 86:428-31. 2001..INTERPRETATION AND CONCLUSIONS: Present data indicate an association between prothrombotic genetic factors and FGR... - More on: does the factor V Asp79His (409 G/C) polymorphism influence Factor V and APC resistance levels?A Bossone
J Thromb Haemost 3:417. 2005 - Plasma thrombin-activatable fibrinolysis inhibitor antigen concentration and genotype in relation to myocardial infarction in the north and south of EuropeI Juhan-Vague
Laboratoire d Hematologie, CHU Timone, Inserm EPI 99 36, Marseilles, France
Arterioscler Thromb Vasc Biol 22:867-73. 2002..The geographical differences observed do not contribute to explaining the North-South gradient in MI risk in Europe... - Impact of plasma homocysteine and prothrombin G20210 A on primary antiphospholipid syndromeP R Ames
Lupus Research Unit, St Thomas Hospital, London, UK
Blood Coagul Fibrinolysis 12:699-704. 2001..Measurement of plasma HC in aPL subjects may identify patients at increased thrombotic risk requiring HC lowering... - Multiple thrombophilic factors in a patient with Budd-Chiari syndromeV Brancaccio
Coagulation Unit, Cardarelli Hospital, Naples, Italy
Clin Lab Haematol 24:61-3. 2002..We report the case of a patient with essential thrombocythemia and Budd-Chiari syndrome in which heterozygosity for both factor V Leiden and the mutation G20210A of the prothrombin gene were identified... - ACE gene polymorphism and insulin action in older subjects and healthy centenariansG Paolisso
Department of Geriatric Medicine and Metabolic Diseases, Institute of General Pathology and Oncology, Second University of Naples, Italy
J Am Geriatr Soc 49:610-4. 2001.... - Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian populationF Simonelli
Department of Ophthalmology, Seconda Universita di Napoli, Italy
Ophthalmic Res 33:325-8. 2001..Our purpose was to investigate the role of apoE gene polymorphisms in Italian patients with age-related macular degeneration (AMD)... - Thrombophilic genotypes, natural anticoagulants, and plasma homocysteine in myeloproliferative disorders: relationship with splanchnic vein thrombosis and arterial diseaseL Amitrano
Gastroenterology, A. Cardarelli Hospital, Naples, Italy
Am J Hematol 72:75-81. 2003..Measurement of plasma HC and protein C in MPD may identify patients more likely to suffer arterial disease and splanchnic vein thrombosis and who may require plasma HC lowering in the former case... - Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous ThromboembolismJ Emmerich
Hopital Europeen Georges Pompidou, Service de Medecine Vasculaire, Centre Claude Bernard et Laboratoire d Hémostase, Paris, France
Thromb Haemost 86:809-16. 2001..69). Conversely, factor II G20210A mutation was equally balanced in both patient groups... - The plasminogen activator inhibitor-1 -675 4G/5G genotype influences the risk of myocardial infarction associated with elevated plasma proinsulin and insulin concentrations in men from Europe: the HIFMECH studyI Juhan-Vague
Laboratoire d Hematologie, CHU Timone, Inserm EPI 99 36, Marseilles, France
J Thromb Haemost 1:2322-9. 2003..Although the potential role of plasminogen activator inhibitor-1 (PAI-1) in the development of coronary artery disease is strongly supported by its biological characteristics, results of clinical studies remain controversial... - High prevalence of thrombophilic genotypes in patients with acute mesenteric vein thrombosisL Amitrano
Gastroenterology Unit, A Cardarelli Hospital, Naples, Italy
Am J Gastroenterol 96:146-9. 2001..Our goal was to assess prevalence and clinical significance of genetic thrombophilia in mesenteric vein thrombosis... - Factor XIII Val34Leu polymorphism and risk of deep vein thrombosisM Margaglione
Thromb Haemost 84:1118-9. 2000 - Comparative prevalence of antiphospholipid antibodies and thrombophilic genotypes in consecutive patients with venous thrombosisG Cappucci
Atherosclerosis Unit, IRCCS 'Casa Sollievo della Sofferenza, Foggia, Italy
Blood Coagul Fibrinolysis 12:659-65. 2001..01). Antiphospholipid antibodies are as common as thrombophilic genotypes in patients with venous thrombosis, and the interaction of aPL with MTHFR+/+ may influence age at first event via elevated plasma homocysteine... - Low-grade inflammation may play a role in the etiology of the metabolic syndrome in patients with coronary heart disease: the HIFMECH studyJ S Yudkin
Diabetes and Cardiovascular Disease Academic Unit, Department of Medicine, University College London, London, UK
Metabolism 53:852-7. 2004..This raises the possibility that links between insulin resistance and cardiovascular disease could, in part, represent common consequences of low-grade inflammation... - Risk of myocardial infarction in carriers of mutations in the hemochromatosis-associated geneM Margaglione
Thromb Haemost 84:726-7. 2000 - [Hypersensitivity to oral anticoagulants: report of a case]M M Patella
Dipartimento di Science Medico-Chirurgiche Cardiologiche, Respiratorie e Toraciche, Napoli
Ital Heart J Suppl 2:303-6. 2001..This genetic defect caused a reduced catabolism of S-warfarin and excessive anticoagulation... - Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonismC Piccoli
J Med Genet 45:596-602. 2008.... - A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogenG Vecchione
Hospital CCSS, Viale Cappuccini 1, 71013 S. Giovanni Rotondo, Foggia, Italy
Rapid Commun Mass Spectrom 15:1383-90. 2001..The advantage of the proposed approach is exemplified by the fact that the DNA sequence information for the case investigated had not shown any evidence of the abnormality... - Platelet activation in subjects carrying factor V Leiden or factor II A20210 mutationsE Grandone
J Thromb Haemost 4:2496-8. 2006 - Portal vein thrombosis after variceal endoscopic sclerotherapy in cirrhotic patients: role of genetic thrombophiliaL Amitrano
Gastroenterology Unit, A Cardarelli Hospital, Naples, Italy
Endoscopy 34:535-8. 2002..We tested the hypothesis that genetic thrombophilia plays a role in the development of portal vein thrombosis in patients with liver cirrhosis undergoing endoscopic sclerotherapy... - EPCR Ser219Gly: elevated sEPCR, prothrombin F1+2, risk for coronary heart disease, and increased sEPCR shedding in vitroH Ireland
Cardiovascular Genetics, Department Medicine, University College London, 5 University St, London, WC1E 6JF, UK
Atherosclerosis 183:283-92. 2005..The increased CHD-risk and thrombin generation appears to be acting through increased shedding of the Gly allele from the cell surface... - Macrothrombocytopenia in velocardiofacial syndromeR Pallotta
J Thromb Haemost 3:601-3. 2005 - Protein Z gene polymorphisms are associated with protein Z plasma levelsR Santacroce
J Thromb Haemost 2:1197-9. 2004 - Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia AR Santacroce
Cattedra di Genetica Medica, Dipartimento di Scienze Biomediche, Universita degli Studi di Foggia, Viale Pinto, Foggia, Italy
J Hum Genet 53:275-84. 2008..The type of mutation was a strong predictor of the clinical phenotype. This database is expected to considerably improve the genetic counseling and medical care of HA families in Italy...