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2. SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
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Matteo D’Antonio, Jennifer P. Nguyen, Timothy D. Arthur, Hiroko Matsui, Agnieszka D’Antonio-Chronowska, Kelly A. Frazer, Benjamin M. Neale, Mark Daly, Andrea Ganna, Christine Stevens, Gita A. Pathak, Shea J. Andrews, Masahiro Kanai, Mattia Cordioli, Juha Karjalainen, Renato Polimanti, Matti Pirinen, Nadia Harerimana, Kumar Veerapen, Brooke Wolford, Huy Nguyen, Matthew Solomonson, Rachel G. Liao, Karolina Chwialkowska, Amy Trankiem, Mary K. Balaconis, Caroline Hayward, Anne Richmond, Archie Campbell, Marcela Morris, Chloe Fawns-Ritchie, Joseph T. Glessner, Douglas M. Shaw, Xiao Chang, Hannah Polikowski, Petty E. Lauren, Hung-Hsin Chen, Zhu Wanying, Hakon Hakonarson, David J. Porteous, Jennifer Below, Kari North, Joseph B. McCormick, Paul R.H.J. Timmers, James F. Wilson, Albert Tenesa, Kenton D’Mellow, Shona M. Kerr, Mari E.K. Niemi, Lindokuhle Nkambul, Kathrin Aprile von Hohenstaufen, Ali Sobh, Madonna M. Eltoukhy, Amr M. Yassen, Mohamed A.F. Hegazy, Kamal Okasha, Mohammed A. Eid, Hanteera S. Moahmed, Doaa Shahin, Yasser M. El-Sherbiny, Tamer A. Elhadidy, Mohamed S. Abd Elghafar, Jehan J. El-Jawhari, Attia A.S. Mohamed, Marwa H. Elnagdy, Amr Samir, Mahmoud Abdel-Aziz, Walid T. Khafaga, Walaa M. El-Lawaty, Mohamed S. Torky, Mohamed R. El-shanshory, Chiara Batini, Paul H. Lee, Nick Shrine, Alexander T. Williams, Martin D. Tobin, Anna L. Guyatt, Catherine John, Richard J. Packer, Altaf Ali, Robert C. Free, Xueyang Wang, Louise V. Wain, Edward J. Hollox, Laura D. Venn, Catherine E. Bee, Emma L. Adams, Ahmadreza Niavarani, Bahareh Sharififard, Rasoul Aliannejad, Ali Amirsavadkouhi, Zeinab Naderpour, Hengameh Ansari Tadi, Afshar Etemadi Aleagha, Saeideh Ahmadi, Seyed Behrooz Mohseni Moghaddam, Alireza Adamsara, Morteza Saeedi, Hamed Abdollahi, Abdolmajid Hosseini, Pajaree Chariyavilaskul, Monpat Chamnanphon, Thitima B. Suttichet, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Watsamon Jantarabenjakul, Opass Putchareon, Pattama Torvorapanit, Thanyawee Puthanakit, Pintip Suchartlikitwong, Nattiya Hirankarn, Voraphoj Nilaratanakul, Pimpayao Sodsai, Ben M. Brumpton, Kristian Hveem, Cristen Willer, Wei Zhou, Tormod Rogne, Erik Solligard, Bjørn Olav Åsvold, Malak Abedalthagafi, Manal Alaamery, Saleh Alqahtani, Dona Baraka, Fawz Al Harthi, Ebtehal Alsolm, Leen Abu Safieh, Albandary M. Alowayn, Fatimah Alqubaishi, Amal Al Mutairi, Serghei Mangul, Abdulraheem Alshareef, Mona Sawaji, Mansour Almutairi, Nora Aljawini, Nour Albesher, Yaseen M. Arabi, Ebrahim S. Mahmoud, Amin K. Khattab, Roaa T. Halawani, Ziab Z. Alahmadey, Jehad K. Albakri, Walaa A. Felemban, Bandar A. Suliman, Rana Hasanato, Laila Al-Awdah, Jahad Alghamdi, Deema AlZahrani, Sameera AlJohani, Hani Al-Afghani, May Alrashed, Nouf AlDhawi, Hadeel AlBardis, Sarah Alkwai, Moneera Alswailm, Faisal Almalki, Maha Albeladi, Iman Almohammed, Eman Barhoush, Anoud Albader, Salam Massadeh, Abdulaziz AlMalik, Sara Alotaibi, Bader Alghamdi, Junghyun Jung, Mohammad S. Fawzy, Yunsung Lee, Per Magnus, Lill-Iren S. Trogstad, Øyvind Helgeland, Jennifer R. Harris, Massimo Mangino, Tim D. Spector, Duncan Emma, Sandra P. Smieszek, Bartlomiej P. Przychodzen, Christos Polymeropoulos, Vasilios Polymeropoulos, Mihael H. Polymeropoulos, Israel Fernandez-Cadenas, Jordi Perez-Tur, Laia Llucià-Carol, Natalia Cullell, Elena Muiño, Jara Cárcel-Márquez, Marta L. DeDiego, Lara Lloret Iglesias, Anna M. Planas, Alex Soriano, Veronica Rico, Daiana Agüero, Josep L. Bedini, Francisco Lozano, Carlos Domingo, Veronica Robles, Francisca Ruiz-Jaén, Leonardo Márquez, Juan Gomez, Eliecer Coto, Guillermo M. Albaiceta, Marta García-Clemente, David Dalmau, Maria J. Arranz, Beatriz Dietl, Alex Serra-Llovich, Pere Soler, Roger Colobrán, Andrea Martín-Nalda, Alba Parra Martínez, David Bernardo, Silvia Rojo, Aida Fiz-López, Elisa Arribas, Paloma de la Cal-Sabater, Tomás Segura, Esther González-Villa, Gemma Serrano-Heras, Joan Martí-Fàbregas, Elena Jiménez-Xarrié, Alicia de Felipe Mimbrera, Jaime Masjuan, Sebastian García-Madrona, Anna Domínguez-Mayoral, Joan Montaner Villalonga, Paloma Menéndez-Valladares, Daniel I. Chasman, Julie E. Buring, Paul M. Ridker, Giulianini Franco, Howard D. Sesso, JoAnn E. Manson, Joseph R. Glessner, Carolina Medina-Gomez, Andre G. Uitterlinden, M. Arfan Ikram, Kati Kristiansson, Sami Koskelainen, Markus Perola, Kati Donner, Katja Kivinen, Aarno Palotie, Samuli Ripatti, Sanni Ruotsalainen, Mari Kaunisto, null FinnGen, Tomoko Nakanishi, Guillaume Butler-Laporte, Vincenzo Forgetta, David R. Morrison, Biswarup Ghosh, Laetitia Laurent, Alexandre Belisle, Danielle Henry, Tala Abdullah, Olumide Adeleye, Noor Mamlouk, Nofar Kimchi, Zaman Afrasiabi, Nardin Rezk Branka Vulesevic, Meriem Bouab, Charlotte Guzman, Louis Petitjean, Chris Tselios, Xiaoqing Xue, Erwin Schurr, Jonathan Afilalo, Marc Afilalo, Maureen Oliveira, Bluma Brenner, Pierre Lepage, Jiannis Ragoussis, Daniel Auld, Nathalie Brassard, Madeleine Durand, Michaël Chassé, Daniel E. Kaufmann, G. Mark Lathrop, Vincent Mooser, J. Brent Richards, Rui Li, Darin Adra, Souad Rahmouni, Michel Georges, Michel Moutschen, Benoit Misset, Gilles Darcis, Julien Guiot, Julien Guntz, Samira Azarzar, Stéphanie Gofflot, Yves Beguin, Sabine Claassen, Olivier Malaise, Pascale Huynen, Christelle Meuris, Marie Thys, Jessica Jacques, Philippe Léonard, Frederic Frippiat, Jean-Baptiste Giot, Anne-Sophie Sauvage, Christian Von Frenckell, Yasmine Belhaj, Bernard Lambermont, Sara Pigazzini, Lindokuhle Nkambule, Michelle Daya, Jonathan Shortt, Nicholas Rafaels, Stephen J. Wicks, Kristy Crooks, Kathleen C. Barnes, Christopher R. Gignoux, Sameer Chavan, Triin Laisk, Kristi Läll, Maarja Lepamets, Reedik Mägi, Tõnu Esko, Ene Reimann, Lili Milani, Helene Alavere, Kristjan Metsalu, Mairo Puusepp, Andres Metspalu, Paul Naaber, Edward Laane, Jaana Pesukova, Pärt Peterson, Kai Kisand, Jekaterina Tabri, Raili Allos, Kati Hensen, Joel Starkopf, Inge Ringmets, Anu Tamm, Anne Kallaste, Pierre-Yves Bochud, Carlo Rivolta, Stéphanie Bibert, Mathieu Quinodoz, Dhryata Kamdar, Noémie Boillat, Semira Gonseth Nussle, Werner Albrich, Noémie Suh, Dionysios Neofytos, Véronique Erard, Cathy Voide, null FHoGID, null RegCOVID, null P-PredictUs, null SeroCOVID, null CRiPSI, Rafael de Cid, Iván Galván-Femenía, Natalia Blay, Anna Carreras, Beatriz Cortés, Xavier Farré, Lauro Sumoy, Victor Moreno, Josep Maria Mercader, Marta Guindo-Martinez, David Torrents, Manolis Kogevinas, Judith Garcia-Aymerich, Gemma Castaño-Vinyals, Carlota Dobaño, Alessandra Renieri, Francesca Mari, Chiara Fallerini, Sergio Daga, Elisa Benetti, Margherita Baldassarri, Francesca Fava, Elisa Frullanti, Floriana Valentino, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Giada Beligni, Andrea Tommasi, Laura Di Sarno, Maria Palmieri, Miriam Lucia Carriero, Diana Alaverdian, Stefano Busani, Raffaele Bruno, Marco Vecchia, Mary Ann Belli, Nicola Picchiotti, Maurizio Sanarico, Marco Gori, Simone Furini, Stefania Mantovani, Serena Ludovisi, Mario Umberto Mondelli, Francesco Castelli, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Massimo Vaghi, Stefano Rusconi, Matteo Siano, Francesca Montagnani, Arianna Emiliozzi, Massimiliano Fabbiani, Barbara Rossetti, Elena Bargagli, Laura Bergantini, Miriana D’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Maria Bandini, Gian Piero Caldarelli, Paolo Piacentini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Alessandro Pancrazzi, Maria Lorubbio, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Massimo Girardis, Sophie Venturelli, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Francesco Paciosi, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Stefano Baratti, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Giuseppe Merla, Gabriella Maria Squeo, Filippo Aucella, Pamela Raggi, Carmen Marciano, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Serafina Valente, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Domenico A. Coviello, Cristina Mussini, Enrico Martinelli, Sandro Mancarella, Luisa Tavecchia, Lia Crotti, Chiara Gabbi, Marco Rizzi, Franco Maggiolo, Diego Ripamonti, Tiziana Bachetti, Maria Teresa La Rovere, Simona Sarzi-Braga, Maurizio Bussotti, Stefano Ceri, Pietro Pinoli, Francesco Raimondi, Filippo Biscarini, Alessandra Stella, Kristina Zguro, Katia Capitani, Claudia Suardi, Simona Dei, Gianfranco Parati, Sabrina Ravaglia, Rosangela Artuso, Giordano Bottà, Paolo Di Domenico, Ilaria Rancan, Antonio Perrella Francesco Bianchi, Davide Romani, Paola Bergomi, Emanuele Catena, Riccardo Colombo, Marco Tanfoni, Antonella Vincenti, Claudio Ferri, Davide Grassi, Gloria Pessina, Mario Tumbarello, Massimo Di Pietro, Ravaglia Sabrina, Sauro Luchi, Chiara Barbieri, Donatella Acquilini, Elena Andreucci, Francesco Vladimiro Segala, Giusy Tiseo, Marco Falcone, Mirjam Lista, Monica Poscente, Oreste De Vivo, Paola Petrocelli, Alessandra Guarnaccia, Silvia Baroni, Albert V. Smith, Andrew P. Boughton, Kevin W. Li, Jonathon LeFaive, Aubrey Annis, Anne E. Justice, Tooraj Mirshahi, Geetha Chittoor, Navya Shilpa Josyula, Jack A. Kosmicki, Manuel A.R. Ferreira, Joseph B. Leader, Dave J. Carey, Matthew C. Gass, Julie E. Horowitz, Michael N. Cantor, Ashish Yadav, Aris Baras, Goncalo R. Abecasis, David A. van Heel, Karen A. Hunt, Dan Mason, Qin Qin Huang, Sarah Finer, null Genes & Health Research Team, Bhavi Trivedi, Christopher J. Griffiths, Hilary C. Martin, John Wright, Richard C. Trembath, Nicole Soranzo, Jing Hua Zhao, Adam S. Butterworth, John Danesh, Emanuele Di Angelantonio, Lude Franke Marike Boezen, Patrick Deelen, Annique Claringbould, Esteban Lopera, Robert Warmerdam, Judith.M. Vonk, Irene van Blokland, Pauline Lanting, Anil P.S. Ori, Brooke Wolford Sebastian Zöllner, Jiongming Wang, Andrew Beck, Gina Peloso, Yuk-Lam Ho, Yan V. Sun, Jennifer E. Huffman, Christopher J. O’Donnell, Kelly Cho, Phil Tsao, J. Michael Gaziano, Michel (M.G.) Nivard, Eco (E.J.C.) de geus, Meike Bartels, Jouke Jan Hottenga, Scott T. Weiss, Elizabeth W. Karlson, Jordan W. Smoller, Robert C. Green, Yen-Chen Anne Feng, Josep Mercader, Shawn N. Murphy, James B. Meigs, Ann E. Woolley, Emma F. Perez, Daniel Rader, Anurag Verma, Marylyn D. Ritchie, Binglan Li, Shefali S. Verma, Anastasia Lucas, Yuki Bradford, Hugo Zeberg, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Lindo Nkambul, Nicolas Tardif, Olav Rooyackers, Jonathan Grip, Tomislav Maricic, Konrad J. Karczewski, Elizabeth G. Atkinson, Kristin Tsuo, Nikolas Baya, Patrick Turley, Rahul Gupta, Shawneequa Callier, Raymond K. Walters, Duncan S. Palmer, Gopal Sarma, Nathan Cheng, Wenhan Lu, Sam Bryant, Claire Churchhouse, Caroline Cusick, Jacqueline I. Goldstein, Daniel King, Cotton Seed, Hilary Finucane, Alicia R. Martin, F. Kyle Satterstrom, Daniel J. Wilson, Jacob Armstrong, Justine K. Rudkin, Gavin Band, Sarah G. Earle, Shang-Kuan Lin, Nicolas Arning, Derrick W. Crook, David H. Wyllie, Anne Marie O’Connell, Chris C.A. Spencer, Nils Koelling, Mark J. Caulfield, Richard H. Scott, Tom Fowler, Loukas Moutsianas, Athanasios Kousathanas, Dorota Pasko, Susan Walker, Augusto Rendon, Alex Stuckey, Christopher A. Odhams, Daniel Rhodes, Georgia Chan, Prabhu Arumugam, Catherine A. Ball, Eurie L. Hong, Kristin Rand, Ahna Girshick, Harendra Guturu, Asher Haug Baltzell, Genevieve Roberts, Danny Park, Marie Coignet, Shannon McCurdy, Spencer Knight, Raghavendran Partha, Brooke Rhead, Miao Zhang, Nathan Berkowitz, Michael Gaddis, Keith Noto, Luong Ruiz, Milos Pavlovic, Laura G. Sloofman, Alexander W. Charney, Noam D. Beckmann, Eric E. Schadt, Daniel M. Jordan, Ryan C. Thompson, Kyle Gettler, Noura S. Abul-Husn, Steven Ascolillo, Joseph D. Buxbaum, Kumardeep Chaudhary, Judy H. Cho, Yuval Itan, Eimear E. Kenny, Gillian M. Belbin, Stuart C. Sealfon, Robert P. Sebra, Irene Salib, Brett L. Collins, Tess Levy, Bari Britvan, Katherine Keller, Lara Tang, Michael Peruggia, Liam L. Hiester, Kristi Niblo, Alexandra Aksentijevich, Alexander Labkowsky, Avromie Karp, Menachem Zlatopolsky, Michael Preuss, Ruth J.F. Loos, Girish N. Nadkarni, Ron Do, Clive Hoggart, Sam Choi, Slayton J. Underwood, Paul O’Reilly, Laura M. Huckins, Marissa Zyndorf, AII - Infectious diseases, Amsterdam Neuroscience - Neuroinfection & -inflammation, and Neurology
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Medical Physiology ,Gene Expression ,Genome-wide association study ,Genome ,Severity of Illness Index ,colocalization ,Gene expression ,Databases, Genetic ,Ethnicity ,2.1 Biological and endogenous factors ,GWAS ,Aetiology ,Biology (General) ,Lung ,Genetics ,Chromosome Mapping ,Single Nucleotide ,Organ Specificity ,Biotechnology ,Cell type ,QH301-705.5 ,Quantitative Trait Loci ,Single-nucleotide polymorphism ,Biology ,eQTL ,Polymorphism, Single Nucleotide ,Article ,General Biochemistry, Genetics and Molecular Biology ,Databases ,Genetic ,SNP ,Humans ,Genetic Predisposition to Disease ,COVID-19 Host Genetics Initiative ,Polymorphism ,Gene ,COVID-19 ,SARS-CoV-2 ,Gene Expression Profiling ,Prevention ,Human Genome ,Computational Biology ,Genetic Variation ,Good Health and Well Being ,Expression quantitative trait loci ,Biochemistry and Cell Biology ,Transcriptome ,Genome-Wide Association Study - Abstract
Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types., Graphical abstract, D’Antonio et al. characterize associations between GWAS signals for COVID-19 disease and eQTLs in 69 human tissues to identify causal variants and their underlying molecular mechanisms. They show that diverse symptoms and disease severity of COVID-19 are associated with variants affecting gene expression in a wide variety of tissues.
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- 2022
3. Azacytidine Treatment in Patients with Acute Myeloid Leukemia/High-Risk Myelodysplastic Syndrome: Day-Hospital Management Compared to Home Care Setting
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Roberto Latagliata, Loredana Bassi, Monica Poscente, Silvia Ciambella, Giulio Trapè, Michela Tarnani, Michela Fuschino, Raffaella Isidori, Silvia Bertelli, Cristina Mastino, Giuseppe Topini, Valentina Panichi, Roberta Talucci, Cinzia De Gregoris, Alessandra Crocicchia, Gloria Pessina, Vincenza Innocenti, Gioia De Angelis, Elisa Emanueli Cippitelli, Ambra Di Veroli, Marco Montanaro, Marco Morucci, Raffaella Randi, Giulia Pezzuti, and Annalisa Lippi
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Care setting ,medicine.medical_specialty ,business.industry ,Internal medicine ,Immunology ,Myeloid leukemia ,Medicine ,In patient ,Day hospital ,Cell Biology ,Hematology ,business ,Biochemistry - Abstract
Introduction Treatment with Hypometilating Agents (HMA) of unfit patients (pts) with Acute Myelogenous Leukemia (AML) and High-Risk Myelodysplastic Syndromes (HR-MDS) is often difficult in the standard Day-Hospital (DH) setting, due to the number of hospital admissions required and the frail clinical conditions of pts. In the Viterbo province, accounting for 3612 Km 2 divided into 60 municipalities, is operative an Unit of Domiciliary Hematologic Care (UDHC) for clinical assistance to frail pts with hemopathies. Aims To evaluate the role of the UDHC compared to standard DH setting in the active frontline treatment with HMA +/- venetoclax (VTX) of pts with AML/HR-MDS. Methods All pts with newly diagnosed AML/HR-MDS unfit for intensive care and treated frontline with HMA from 1/2010 to 4/2021 were analysed. Results In this study period, 112 pts (62 AML/50 HR-MDS) received HMA (azacytidine in 105 cases and decitabine in 7 cases): six pts added VTX to HMA. As concern therapy management, 69 pts (61.6%) were treated in a standard DH setting and 43 (38.4%) were followed by UDHC: pts were allocated to DH or home care setting by responsible physician based on clinical conditions, comorbidities, caregiver availability and distance from hospital. The main features at baseline of HMA in the whole cohort and according to management are reported in the Table 1. Median interval from diagnosis to HMA initiation was 0.9 months (IQR 0.5 - 3.0). Median number of HMA cycles administered was 9 (IQR 4 - 16). The overall response rate (ORR), including complete response, partial response and hematologic improvement, was 43.7% (48/112 pts) in the whole cohort, without differences according to management [29/69 (42.0%) in DH vs 19/43 (44.1%) in home care, p=0.797]. Infections were also equally reported [46/69 pts (66.6%) in DH vs 31/43 (72.0%) in home care setting had at least 1 infection, p=0.362]. Median response duration of the whole cohort was 10.0 months (95%CI 5.7 - 14.2), without differences according to management [8.7 months (95%CI 7.0 - 10.3) in DH vs 13.0 months (95%CI 8.3 - 17.6) in home care, p=0.460]. Median Overall Survival (OS) of the whole cohort was 13.0 months (95%CI 9.7 - 16.2): median OS of pts treated in DH was 13.7 months (95%CI 9.9 - 17.4) compared to 13.0 months (95%CI 6.7 - 19.3) of pts managed by UDHC (p=0.753) (Figure 1). Conclusions Home care management of HMA for unfit AML/HR-MDS pts is feasible and effective, with results similar to those achievable in a standard DH setting: this approach is thus adequate to offer active therapies in a fraction of frail pts with AML/HR-MDS considered up to now ineligible. Figure 1 Figure 1. Disclosures Latagliata: Novartis: Honoraria; Pfizer: Honoraria; BMS Cellgene: Honoraria.
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- 2021
4. TNFA gene: the -308 promoter polymorphism in migraine
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M. Morellini, P Lulli, Mario Giacovazzo, Paolo Martelletti, Gloria Brioli, S. Trabace, and Monica Poscente
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business.industry ,Allele distribution ,Promoter polymorphism ,General Medicine ,Human leukocyte antigen ,medicine.disease ,Molecular analysis ,Anesthesiology and Pain Medicine ,Migraine ,Immunology ,Medicine ,Tumor necrosis factor alpha ,Neurology (clinical) ,Allele ,business ,Gene - Abstract
Molecular analysis of TNFA alleles in Italian subjects affected by migraine was performed in order to define the involfement of HLA region genes in migraine. No statistically significant differences in TNFA allele distribution between patients and controls were observed.
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- 2000
5. The effects of 99mTc-HMPAO-labelled leucocyte scan on human karyotype
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Monica Poscente, Barbara Mancini, Paola Grammatico, Anna Paola Iurilli, Mauro Liberatore, Massimo Donnetti, and Daniela Prosperi
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Adult ,Pathology ,medicine.medical_specialty ,Adolescent ,Inflammation ,Chromosomes ,In vitro stimulation ,White blood cell scan ,Technetium Tc 99m Exametazime ,In vivo ,medicine ,Leukocytes ,99mtc-hmpao ,Sister chromatids ,Humans ,Radiology, Nuclear Medicine and imaging ,Lymphocytes ,Child ,Radionuclide Imaging ,Aged ,Chromosome Aberrations ,lymphocytes ,white blood cell scan ,chromosomal damage ,business.industry ,Karyotype ,General Medicine ,Middle Aged ,99mTc-HMPAO ,Peripheral blood ,Karyotyping ,medicine.symptom ,Radiopharmaceuticals ,business ,Sister Chromatid Exchange - Abstract
Technetium-99m hexamethylpropylene amine oxime (HMPAO) white blood cell scan (WBCS) requires separation and labelling of mixed leucocytes, which include particularly radiosensitive cells, lymphocytes. Lymphocytes labelled during the mixed leucocyte labelling procedure could represent a problem for patients owing to the possible induction of chromosomal aberrations. Lymphocytes labelled in mixed leucocyte preparations are probably killed by the high-dose radiation. Nevertheless, it has been reported that some of these lymphocytes can proliferate after in vitro stimulation. If these cells were to reproduce themselves in vivo, onset of, or increase over time in, chromosomal aberrations could occur on peripheral blood lymphocytes. The present study was performed on 21 patients who underwent WBCS for suspected infection/inflammation. Blood samples of these patients were submitted to cytogenetic study, comprising karyotype determination, evaluation of sister chromatid exchanges (SCE) and evaluation of induced chromosomal breakages or rearrangement rate (B/R). This study was performed 2 h before and 7 days and 6 months after the WBCS. The results demonstrated no statistically significant differences between SCE and B/R values before and after WBCS. No cause-effect relationship appeared to exist between WBCS and the onset of chromosomal aberrations in peripheral blood lymphocytes, at least during the first 6 months post WBCS and within the limits of this study's approach. The high-dose radiation administered to lymphocytes was almost certainly sufficient to kill these cells.
- Published
- 2003
6. Trisomy 20 in a papillary urothelial carcinoma of the ureter
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Cristina Mordenti, Massimo Governatori, Paola Grammatico, Giuseppe Del Porto, Antonietta Lombardo, and Monica Poscente
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Male ,Cancer Research ,medicine.medical_specialty ,Pathology ,Chromosomes, Human, Pair 20 ,Aneuploidy ,Trisomy ,Biology ,medicine.disease_cause ,Proto-Oncogene Mas ,Ureter ,Genetics ,medicine ,Tumor Cells, Cultured ,Humans ,Neoplasm Invasiveness ,Urothelium ,Molecular Biology ,Ureteral neoplasm ,Ureteral Neoplasms ,Cytogenetics ,Anatomy ,Middle Aged ,medicine.disease ,Carcinoma, Papillary ,Chromosome Banding ,Genes, src ,medicine.anatomical_structure ,Karyotyping ,Chromosome 20 ,Carcinogenesis - Abstract
To contribute to the knowledge on tumorigenesis and the evolution of urothelial carcinoma of the ureter, we analyzed the clinical, histological, and cytogenetic aspects of a case. Primary cell cultures obtained from tumor specimens showed a trisomy of chromosome 20 where the c-src proto-oncogene, already described in literature as having an important role in the etiology and progression of some tumors, is located. In our case trisomy 20 is the only present marker and for this reason we think that it could play a role in the tumorigenesis of the urothelial carcinoma of the ureter.
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- 1996
7. Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
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Manuela Vargiolu, Claudio Graziano, Duccio Maria Cordelli, Simona Ferrari, Anita Wischmeijer, Giovanni Romeo, Marco Seri, Pamela Magini, Monica Poscente, Emilio Franzoni, Elena Bacchelli, Daniela Turchetti, Valentina Marchiani, Elisabetta Malaspina, Magini, Pamela, Poscente, Monica, Ferrari, Simona, Vargiolu, Manuela, Bacchelli, Elena, Graziano, Claudio, Wischmeijer, Anita, Turchetti, Daniela, Malaspina, Elisabetta, Marchiani, Valentina, Cordelli, Duccio Maria, Franzoni, Emilio, Romeo, Giovanni, and Seri, Marco
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medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Xq28 disomy ,Case Report ,Biology ,Bioinformatics ,Biochemistry ,MECP2 ,03 medical and health sciences ,MECP2 duplication ,Genetic ,Gene duplication ,medicine ,Genetics ,Genetics(clinical) ,Recombinant X chromosome ,Molecular Biology ,X chromosome ,Genetics (clinical) ,030304 developmental biology ,Biochemistry, medical ,0303 health sciences ,Macular degeneration ,030305 genetics & heredity ,Biochemistry (medical) ,Cytogenetics ,Chromosome ,Phenotype ,Human genetics ,3. Good health ,Xq28 ,nervous system diseases ,Molecular Medicine - Abstract
BACKGROUND: Duplications of MECP2 gene in males cause a syndrome characterized by distinctive clinical features, including severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity and recurrent infections. Patients with complex chromosome rearrangements, leading to Xq28 duplication, share most of the clinical features of individuals with tandem duplications, in particular neurologic problems, suggesting a major pathogenetic role of MECP2 overexpression. RESULTS: We performed cytogenetic and molecular cytogenetic studies in a previously described family with affected males showing congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration. Microsatellite, FISH and array-CGH analyses identified a recombinant X chromosome with a deletion of the PAR1 region, encompassing SHOX, replaced by a duplicated segment of the Xq28 terminal portion, including MECP2. CONCLUSIONS: Our report describes the identification of the actual genetic cause underlying a severe syndrome that previous preliminary analyses erroneously associated to a terminal Xp22.33 region. In the present family as well as in previously reported patients with similar rearrangements, the observed neurologic phenotype is ascribable to MECP2 duplication, with an undefined contribution of the other involved genes. Maculopathy, presented by affected males reported here, could be a novel clinical feature associated to Xq28 disomy due to recombinant X chromosomes, but at present the underlying pathogenetic mechanism is unknown and this potential clinical correlation should be confirmed through the collection of additional patients.
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