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Your search keyword '"Daniela Antonella Piras"' showing total 2 results
Start Over Author "Daniela Antonella Piras" Topic 030204 cardiovascular system & hematology
2 results on '"Daniela Antonella Piras"'

1. Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study

Author

Lorenzo Malatino, Cristina Barlassina, Giuseppe Regolisti, Emanuela Bulla, Tracy Ann Williams, Franco Veglio, Alessandra Sturani, Martina Chittani, Erika Salvi, Daniele Cusi, Andrea Semplicini, Giovanni Fresu, Eric Boerwinkle, Patrizia Bulla, Timo P. Hiltunen, Giuseppe Argiolas, Francesca Frau, Paolo Manunta, Daniele Braga, Silvia Pitzoi, Paolo Mulatero, Giuseppe A. Scioli, Maria Francesca Ortu, Kimmo Kontula, Valeria Glorioso, Chiara Lanzani, Roberta Zaninello, Francesco Fallo, Daniela Antonella Piras, Ezio Degli Esposti, Benedetta Stancanelli, Angela Sciacqua, Ferruccio Galletti, Michele Bardini, Nicola Glorioso, Giovanbattista Desideri, Chiara Troffa, Dinesh Velayutham, Giampaolo Bernini, Francesco Perticone, Claudio Ferri, Stephen T. Turner, Frau, F, Zaninello, R, Salvi, E, Ortu, Mf, Braga, D, Velayutham, D, Argiolas, G, Fresu, G, Troffa, C, Bulla, E, Bulla, P, Pitzoi, S, Piras, Da, Glorioso, V, Chittani, M, Bernini, G, Bardini, M, Fallo, F, Malatino, L, Stancanelli, B, Regolisti, G, Ferri, C, Desideri, G, Scioli, Ga, Galletti, Ferruccio, Sciacqua, A, Perticone, F, Degli Esposti, E, Sturani, A, Semplicini, A, Veglio, F, Mulatero, P, Williams, Ta, Lanzani, C, Hiltunen, Tp, Kontula, K, Boerwinkle, E, Turner, St, Manunta, P, Barlassina, C, Cusi, D, and Glorioso, N.

Subjects
Male, Angiotensin receptor, losartan, Blood Pressure, Genome-wide association study, 030204 cardiovascular system & hematology, Pharmacology, Essential hypertension, genomic, chemistry.chemical_compound, 0302 clinical medicine, Hydrochlorothiazide, 0303 health sciences, angiotensin II receptor blockers, Aldosterone, genome-wide association analysi, Medicine (all), Single Nucleotide, Middle Aged, 3. Good health, angiotensin II receptor blocker, Losartan, Molecular Medicine, Female, Arterial hypertension, Genetic markers, medicine.drug, Adult, hypertension, Polymorphism, Single Nucleotide, 03 medical and health sciences, genomics, Genetics, medicine, Humans, Polymorphism, angiotennsin II receptor, pharmacogenomics, 030304 developmental biology, business.industry, medicine.disease, genome-wide association analysis, Angiotensin II Type 1 Receptor Blockers, Calcium-Calmodulin-Dependent Protein Kinase Type 1, Hypertension, Genome-Wide Association Study, Blood pressure, chemistry, Pharmacogenomics, business
Abstract

Background: Essential hypertension arises from the combined effect of genetic and environmental factors. A pharmacogenomics approach could help to identify additional molecular mechanisms involved in its pathogenesis. Aim: The aim of SOPHIA study was to identify genetic polymorphisms regulating blood pressure response to the angiotensin II receptor blocker, losartan, with a whole-genome approach. Materials & methods: We performed a genome-wide association study on blood pressure response in 372 hypertensives treated with losartan and we looked for replication in two independent samples. Results: We identified a peak of association in CAMK1D gene (rs10752271, effect size -5.5 ± 0.94 mmHg, p = 1.2 × 10-8). CAMK1D encodes a protein that belongs to the regulatory pathway involved in aldosterone synthesis. We tested the specificity of rs10752271 for losartan in hypertensives treated with hydrochlorothiazide and we validated it in silico in the GENRES cohort. Conclusion: Using a genome-wide approach, we identified the CAMK1D gene as a novel locus associated with blood pressure response to losartan. CAMK1D gene characterization may represent a useful tool to personalize the treatment of essential hypertension. Original submitted 7 May 2014; Revision submitted 29 July 2014

Published
2014
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2. TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives

Author

Simona Delli Carpini, Eric Boerwinkle, Erika Salvi, Gianluigi Condorelli, Marco Simonini, Lorena Citterio, Giovanni Fresu, Giuseppe Argiolas, Yan Gong, Sandosh Padmanabhan, Roberta Zaninello, Daniele Cusi, Anna F. Dominiczak, Daniela Antonella Piras, Maria Francesca Ortu, Dinesh Velayutham, Julie A. Johnson, Timo P. Hiltunen, Chiara Troffa, Rhonda M. Cooper-DeHoff, Chiara Lanzani, Bruno Trimarco, S. Pozzoli, Kati Donner, Daniele Braga, Nicola Glorioso, Martina Chittani, Kimmo Kontula, Cristina Barlassina, Arlene B. Chapman, Olle Melander, Francesca Frau, Paolo Manunta, Natalia V. Rivera, Valeria Glorioso, Stephen T. Turner, Chittani, Martina, Zaninello, Roberta, Lanzani, Chiara, Frau, Francesca, Ortu, Maria F, Salvi, Erika, Fresu, Giovanni, Citterio, Lorena, Braga, Daniele, Piras, Daniela A, Carpini, Simona Delli, Velayutham, Dinesh, Simonini, Marco, Argiolas, Giuseppe, Pozzoli, Simona, Troffa, Chiara, Glorioso, Valeria, Kontula, Kimmo K, Hiltunen, Timo P, Donner, Kati M, Turner, Stephen T, Boerwinkle, Eric, Chapman, Arlene B, Padmanabhan, Sandosh, Dominiczak, Anna F, Melander, Olle, Johnson, Julie A, Cooper Dehoff, Rhonda M, Gong, Yan, Rivera, Natalia V, Condorelli, Gianluigi, Trimarco, Bruno, Manunta, Paolo, Cusi, Daniele, Glorioso, Nicola, Barlassina, Cristina, Chittani, M, Zaninello, R, Lanzani, C, Frau, F, Ortu, Mf, Salvi, E, Fresu, G, Citterio, L, Braga, D, Piras, Da, Carpini, Sd, Velayutham, D, Simonini, M, Argiolas, G, Pozzoli, S, Troffa, C, Glorioso, V, Kontula, Kk, Hiltunen, Tp, Donner, Km, Turner, St, Boerwinkle, E, Chapman, Ab, Padmanabhan, S, Dominiczak, Af, Melander, O, Johnson, Ja, COOPER DEHOFF, Rm, Gong, Y, Rivera, Nv, Condorelli, G, Trimarco, B, Cusi, D, Glorioso, N, and Barlassina, C.

Subjects
Adult, Male, Physiology, medicine.drug_class, Systole, Sodium Chloride Symporter Inhibitors, Genome-wide association study, Blood Pressure, 030204 cardiovascular system & hematology, Pharmacology, Essential hypertension, Article, Losartan, White People, Dioxygenases, 03 medical and health sciences, 0302 clinical medicine, Hydrochlorothiazide, Proto-Oncogene Proteins, Internal Medicine, Medicine, Humans, Antihypertensive drug, Aldosterone, Thiazide, Antihypertensive Agents, 030304 developmental biology, Aged, 0303 health sciences, business.industry, Tumor Suppressor Proteins, Membrane Proteins, Middle Aged, medicine.disease, 3. Good health, DNA-Binding Proteins, Italy, Pharmacogenetics, Pharmacogenomics, Case-Control Studies, Hypertension, Essential Hypertension, Cardiology and Cardiovascular Medicine, business, medicine.drug, Genome-Wide Association Study
Abstract

Thiazide diuretics have been recommended as a first-line antihypertensive treatment, although the choice of 'the right drug in the individual essential hypertensive patient' remains still empirical. Essential hypertension is a complex, polygenic disease derived from the interaction of patient's genetic background with the environment. Pharmacogenomics could be a useful tool to pinpoint gene variants involved in antihypertensive drug response, thus optimizing therapeutic advantages and minimizing side effects.We looked for variants associated with blood pressure response to hydrochlorothiazide over an 8-week follow-up by means of a genome-wide association analysis in two Italian cohorts of never-treated essential hypertensive patients: 343 samples from Sardinia and 142 from Milan. TET2 and CSMD1 as plausible candidate genes to affect SBP response to hydrochlorothiazide were identified. The specificity of our findings for hydrochlorothiazide was confirmed in an independent cohort of essential hypertensive patients treated with losartan. Our best findings were also tested for replication in four independent hypertensive samples of European Ancestry, such as GENetics of drug RESponsiveness in essential hypertension, Genetic Epidemiology of Responses to Antihypertensives, NORdic DILtiazem intervention, Pharmacogenomics Evaluation of Antihypertensive Responses, and Campania Salute Network-StayOnDiur. We validated a polymorphism in CSMD1 and UGGT2.This exploratory study reports two plausible loci associated with SBP response to hydrochlorothiazide: TET2, an aldosterone-responsive mediator of αENaC gene transcription; and CSMD1, previously described as associated with hypertension in a case-control study.

Published
2015

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