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Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations
Authors :
Olmastroni, E. Gazzotti, M. Arca, M. Averna, M. Pirillo, A. Catapano, A. L. Casula, M. Marcello, A. Maurizio, A. Stefano, B. Sebastiano, C. Luigi, C. A. Patrizia, T. Fabio, P. Andrea, B. Giacomo, B. Gianni, B. Luca, B. Katia, B. Claudio, B. Carlo, B. A. Adriana, B. Paolo, C. Francesca, C. Francesco, C. Nadia, C. Maria, D. B. Massimo, F. Claudio, F. Maria, F. A. Andrea, G. Ornella, G. Arcangelo, I. Gabriella, I. Lorenzo, I. Graziana, L. Alessandro, L. Giuseppe, M. Rossella, M. Lorenzo, M. Giuliana, M. Sandro, M. Valerio, P. Cristina, P. Antonio, P. Livia, P. Arturo, P. Francesco, P. Elena, R. Carlo, S. Riccardo, S. Chiara, T. Battista, V. G. Pablo, W. J. Sabina, Z. Grazia, Z. M. Alessia, D. C. Giuliana, F. Rossella, S. Davide, B. Giuseppe, B. Francesco, B. Guglielmo, B. Sandra, B. Patrizia, B. Marco, B. Sabrina, B. P. Elena, C. M. Iris, C. Baldassarre, C. A. Maria, C. Emanuela, C. Giuseppe, C. Laura, C. A. Ada, C. Sergio, D. Vincenzo, D. Giuseppe, D. C. Chiara, D. P. Fabio, F. Marco, G. Omar, G. Betti, G. Davide, G. Liliana, G. Giulia, M. Giancarla, M. Ilenia, M. Simona, M. Tiziana, M. Fabio, N. Alberto, N. E. Chiara, P. Lucia, P. Rita, R. A. Elena, S. Alon, S. Roberto, S. Patrizia, S. Michele, T. Pierandrea, V. Manuela, C. Enzo, M. Elena, T. Veronic, Z. Olmastroni, Elena Gazzotti, Marta Arca, Marcello Averna, Maurizio Pirillo, Angela Catapano, Alberico Luigi Casula, Manuela Stefano, Bertolini Sebastiano, Calandra Patrizia, Tarugi Fabio, Pellegatta Andrea, Bartuli Andrea, Benso Giacomo, Biasucci Gianni, Biolo Luca, Bonanni Katia, Bonomo Claudio, Borghi Antonio Carlo Bossi Adriana, Branchi Paolo, Calabrò Francesca, Carubbi Francesco, Cipollone Nadia, Citroni Maria Del Ben Massimo, Federici Claudio, Ferri Anna Maria Fiorenza Andrea, Giaccari Ornella, Guardamagna Arcangelo, Iannuzzi Iannuzzo, Gabriella Lorenzo, Iughetti Graziana, Lupattelli Alessandro, Lupi Giuseppe, Mandraffino Rossella, Marcucci Lorenzo, Maroni Giuliana, Mombelli Sandro, Muntoni Valerio, Pecchioli Cristina, Pederiva Antonio, Pipolo Livia, Pisciotta Antonio, Pujia Francesco, Purrello Elena, Repetti Carlo, Sabbà Riccardo, Sarzani Chiara, Trenti Giovanni Battista Vigna Josè Pablo Werba Sabina, Zambon Maria Grazia Zenti Alessia Di Costanzo Fortunato, Giuliana Rossella, Spina Davide, Baldera Giuseppe, Banderali Francesco, Baratta Guglielmo, Beccuti Sandra, Bertocco Patrizia, Bruzzi Marco, Bucci Paola Sabrina Buonuomo Maria Elena Capra Iris, Cardolini Angelo Baldassarre Cefalù Maria, Cinquegrani Emanuela, Colombo Giuseppe, Covetti Anna Laura Cremonini Ada, Cutolo Sergio, D'Addato Vincenzo, D'Ambrosio Giuseppe De Corrado Chiara Di Pentima Fabio, Fimiani Gentile, Marco Omar, Ghirardello Betti, Giusti Davide, Grassi Liliana, Grigore Giulia, Massini Giancarla, Meregalli Ilenia, Minicocci Simona, Moffa Tiziana, Montalcini Fabio, Nascimbeni Emanuele Alberto Negri Chiara, Pavanello Lucia, Prati Anna Rita Roscini Elena, Sani Alon, Schaffer Roberto, Scicali Patrizia, Suppressa Michele, Tedeschi Pierandrea, Vinci Enzo, Manzato Elena, Tragni Veronica, Zampoler Bertolini Stefano, Calandra Sebastiano, Tarugi Patrizia, Pellegatta Fabio, Bartuli Andrea, Benso Andrea, Biasucci Giacomo, Biolo Gianni, Bonanni Luca, Bonomo Katia, Borghi Claudio, Bossi Antonio Carlo, Branchi Adriana, Calabrò Paolo, Carubbi Francesca, Cipollone Francesco, Citroni Nadia, Del Ben Maria, Federici Massimo, Ferri Claudio, Fiorenza Anna Maria, Giaccari Andrea, Guardamagna Ornella, Iannuzzi Arcangelo, Iannuzzo Gabriella, Iughetti Lorenzo, Lupattelli Graziana, Lupi Alessandro, Mandraffino Giuseppe, Marcucci Rossella, Maroni Lorenzo, Mombelli Giuliana, Muntoni Sandro, Pecchioli Valerio, Pederiva Cristina, Pipolo Antonio, Pisciotta Livia, Pujia Arturo, Purrello Francesco, Repetti Elena, Sabbà Carlo, Sarzani Riccardo, Trenti Chiara, Vigna Giovanni Battista, Werba Josè Pablo, Zambon Sabina, Zenti Maria Grazia. Di Costanzo Alessia, Fortunato Giuliana, Spina Rossella, Baldera Davide, Banderali Giuseppe, Baratta Francesco, Beccuti Guglielmo, Bertocco Sandra, Bruzzi Patrizia, Bucci Marco, Buonuomo Paola Sabrina, Capra Maria Elena, Cardolini Iris, Cefalù Angelo Baldassare, Cinquegrani Maria, Colombo Emanuela, Covetti Giuseppe, Cremonini Anna Laura, Cutolo Ada, D’Addato Sergio, D’Ambrosio Vincenzo, De Corrado Giuseppe, Di Pentima Chiara, Fimiani Fabio, Gentile Marco, Ghirardello Omar, Giusti Betti, Grassi Davide, Grigore Liliana, Massini Giulia, Meregalli Giancarla, Minicocci Ilenia, Moffa Simona, Montalcini Tiziana, Nascimbeni Fabio, Negri Emanuele Alberto, Pavanello Chiara, Prati Lucia, Roscini Anna Rita, Sani Elena, Schaffer Alon, Scicali Roberto, Suppressa Patrizia, Tedeschi Michele, Vinci Pierandrea, Manzato Enzo, Tragni Elena, Zampoleri Veronica
Publication Year :
2022
Abstract
Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) were evaluated. Patients who were FH-mutation negative had lower mean levels of pretreatment LDL-C than patients who were FH-mutation positive (217.14±55.49 versus 270.52±68.59 mg/dL, P
Details
Language :
English
Database :
OpenAIRE
Accession number :
edsair.pmid.dedup....21ad434766e24085d9eb172c16b8d53b