ROGER CHAMMAS

(Fonte: Lattes)
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Departamento de Radiologia, Faculdade de Medicina - Docente
LIM/05 - Laboratório de Poluição Atmosférica Experimental, Hospital das Clínicas, Faculdade de Medicina
LIM/24 - Laboratório de Oncologia Experimental, Hospital das Clínicas, Faculdade de Medicina - Líder

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  • article 0 Citação(ões) na Scopus
    Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk
    (2024) UENAL, Pelin; LU, Ye; BUENO-DE-MESQUITA, Bas; EIJCK, Casper H. J. van; TALAR-WOJNAROWSKA, Renata; SZENTESI, Andrea; GAZOULI, Maria; KREIVENAITE, Edita; TAVANO, Francesca; MALECKA-WOJCIESKO, Ewa; EROSS, Balint; OLIVERIUS, Martin; BUNDUC, Stefania; AOKI, Mateus Nobrega; VODICKOVA, Ludmila; BOGGI, Ugo; GIACCHERINI, Matteo; KONDRACKIENE, Jurate; CHAMMAS, Roger; PALMIERI, Orazio; THEODOROPOULOS, George E.; BIJLSMA, Maarten F.; BASSO, Daniela; MOHELNIKOVA-DUCHONOVA, Beatrice; SOUCEK, Pavel; IZBICKI, Jakob R.; KIUDELIS, Vytautas; VANELLA, Giuseppe; ARCIDIACONO, Paolo Giorgio; WLODARCZYK, Barbara; HACKERT, Thilo; SCHOETTKER, Ben; UZUNOGLU, Faik G.; BAMBI, Franco; GOETZ, Mara; HLAVAC, Viktor; BRENNER, Hermann; PERRI, Francesco; CARRARA, Silvia; LANDI, Stefano; HEGYI, Peter; DIJK, Frederike; MAIELLO, Evaristo; CAPRETTI, Giovanni; TESTONI, Sabrina Gloria Giulia; PETRONE, Maria Chiara; STOCKER, Hannah; ERMINI, Stefano; ARCHIBUGI, Livia; GENTILUOMO, Manuel; CAVESTRO, Giulia Martina; PEZZILLI, Raffaele; FRANCO, Gregorio Di; MILANETTO, Anna Caterina; SPERTI, Cosimo; NEOPTOLEMOS, John P.; MORELLI, Luca; VOKACOVA, Klara; PASQUALI, Claudio; LAWLOR, Rita T.; BAZZOCCHI, Francesca; KUPCINSKAS, Juozas; CAPURSO, Gabriele; CAMPA, Daniele; CANZIAN, Federico
    Genome-wide association studies (GWAS) are a powerful tool for detecting variants associated with complex traits and can help risk stratification and prevention strategies against pancreatic ductal adenocarcinoma (PDAC). However, the strict significance threshold commonly used makes it likely that many true risk loci are missed. Functional annotation of GWAS polymorphisms is a proven strategy to identify additional risk loci. We aimed to investigate single-nucleotide polymorphisms (SNP) in regulatory regions [transcription factor binding sites (TFBSs) and enhancers] that could change the expression profile of multiple genes they act upon and thereby modify PDAC risk. We analyzed a total of 12,636 PDAC cases and 43,443 controls from PanScan/PanC4 and the East Asian GWAS (discovery populations), and the PANDoRA consortium (replication population). We identified four associations that reached study-wide statistical significance in the overall meta-analysis: rs2472632(A) (enhancer variant, OR 1.10, 95%CI 1.06,1.13, p = 5.5 x 10-8), rs17358295(G) (enhancer variant, OR 1.16, 95%CI 1.10,1.22, p = 6.1 x 10-7), rs2232079(T) (TFBS variant, OR 0.88, 95%CI 0.83,0.93, p = 6.4 x 10-6) and rs10025845(A) (TFBS variant, OR 1.88, 95%CI 1.50,1.12, p = 1.32 x 10-5). The SNP with the most significant association, rs2472632, is located in an enhancer predicted to target the coiled-coil domain containing 34 oncogene. Our results provide new insights into genetic risk factors for PDAC by a focused analysis of polymorphisms in regulatory regions and demonstrating the usefulness of functional prioritization to identify loci associated with PDAC risk.
  • article 0 Citação(ões) na Scopus
    Data-driven, cross-disciplinary collaboration: lessons learned at the largest academic health center in Latin America during the COVID-19 pandemic
    (2024) RITTO, Ana Paula; ARAUJO, Adriana Ladeira de; CARVALHO, Carlos Roberto Ribeiro de; SOUZA, Heraldo Possolo De; FAVARETTO, Patricia Manga e Silva; SABOYA, Vivian Renata Boldrim; GARCIA, Michelle Louvaes; KULIKOWSKI, Leslie Domenici; KALLAS, Esper Georges; PEREIRA, Antonio Jose Rodrigues; COBELLO JUNIOR, Vilson; SILVA, Katia Regina; ABDALLA, Eidi Raquel Franco; SEGURADO, Aluisio Augusto Cotrim; SABINO, Ester Cerdeira; RIBEIRO JUNIOR, Ulysses; FRANCISCO, Rossana Pulcineli Vieira; MIETHKE-MORAIS, Anna; LEVIN, Anna Sara Shafferman; SAWAMURA, Marcio Valente Yamada; FERREIRA, Juliana Carvalho; SILVA, Clovis Artur; MAUAD, Thais; GOUVEIA, Nelson da Cruz; LETAIF, Leila Suemi Harima; BEGO, Marco Antonio; BATTISTELLA, Linamara Rizzo; DUARTE, Alberto Jose da Silva; SEELAENDER, Marilia Cerqueira Leite; MARCHINI, Julio; FORLENZA, Orestes Vicente; ROCHA, Vanderson Geraldo; MENDES-CORREA, Maria Cassia; COSTA, Silvia Figueiredo; CERRI, Giovanni Guido; BONFA, Eloisa Silva Dutra de Oliveira; CHAMMAS, Roger; BARROS FILHO, Tarcisio Eloy Pessoa de; BUSATTO FILHO, Geraldo
    Introduction The COVID-19 pandemic has prompted global research efforts to reduce infection impact, highlighting the potential of cross-disciplinary collaboration to enhance research quality and efficiency.Methods At the FMUSP-HC academic health system, we implemented innovative flow management routines for collecting, organizing and analyzing demographic data, COVID-related data and biological materials from over 4,500 patients with confirmed SARS-CoV-2 infection hospitalized from 2020 to 2022. This strategy was mainly planned in three areas: organizing a database with data from the hospitalizations; setting-up a multidisciplinary taskforce to conduct follow-up assessments after discharge; and organizing a biobank. Additionally, a COVID-19 curated collection was created within the institutional digital library of academic papers to map the research output.Results Over the course of the experience, the possible benefits and challenges of this type of research support approach were identified and discussed, leading to a set of recommended strategies to enhance collaboration within the research institution. Demographic and clinical data from COVID-19 hospitalizations were compiled in a database including adults and a minority of children and adolescents with laboratory confirmed COVID-19, covering 2020-2022, with approximately 350 fields per patient. To date, this database has been used in 16 published studies. Additionally, we assessed 700 adults 6 to 11 months after hospitalization through comprehensive, multidisciplinary in-person evaluations; this database, comprising around 2000 fields per subject, was used in 15 publications. Furthermore, thousands of blood samples collected during the acute phase and follow-up assessments remain stored for future investigations. To date, more than 3,700 aliquots have been used in ongoing research investigating various aspects of COVID-19. Lastly, the mapping of the overall research output revealed that between 2020 and 2022 our academic system produced 1,394 scientific articles on COVID-19.Discussion Research is a crucial component of an effective epidemic response, and the preparation process should include a well-defined plan for organizing and sharing resources. The initiatives described in the present paper were successful in our aim to foster large-scale research in our institution. Although a single model may not be appropriate for all contexts, cross-disciplinary collaboration and open data sharing should make health research systems more efficient to generate the best evidence.
  • article 0 Citação(ões) na Scopus
    A scan of all coding region variants of the human genome, identifies 13q12.2-rs9579139 and 15q24.1-rs2277598 as novel risk loci for pancreatic ductal adenocarcinoma
    (2023) GIACCHERINI, Matteo; GORI, Leonardo; GENTILUOMO, Manuel; FARINELLA, Riccardo; CERVENA, Klara; SKIECEVICIENE, Jurgita; DIJK, Frederike; CAPURSO, Gabriele; VEZAKIS, Antonis; ARCHIBUGI, Livia; CHAMMAS, Roger; HUSSEIN, Tamas; TAVANO, Francesca; HEGYI, Peter; LOVECEK, Martin; IZBICKI, Jakob R.; BRENNER, Hermann; MOHELNIKOVA-DUCHONOVA, Beatrice; DELL'ANNA, Giuseppe; KUPCINSKAS, Juozas; ERMINI, Stefano; AOKI, Mateus Nobrega; NEOPTOLEMOS, John P.; GAZOULI, Maria; PASQUALI, Claudio; PEZZILLI, Raffaele; TALAR-WOJNAROWSKA, Renata; OLIVERIUS, Martin; AL-SAEEDI, Mohammed; LUCCHESI, Maurizio; FURBETTA, Niccolo; CARRARA, Silvia; EIJCK, Casper H. J. van; MALECKAS, Almantas; MILANETTO, Anna Caterina; LAWLOR, Rita T.; SCHOETTKER, Ben; BOGGI, Ugo; MORELLI, Luca; GINOCCHI, Laura; PISANI, Ruggero Ponz de Leon; SPERTI, Cosimo; ZERBI, Alessandro; ARCIDIACONO, Paolo Giorgio; UZUNOGLU, Faik G.; BUNDUC, Stefania; HOLLECZEK, Bernd; GIOFFREDA, Domenica; MALECKA-WOJCIESKO, Ewa; KIUDELIS, Mindaugas; SZENTESI, Andrea; LAARHOVEN, Hanneke W. M. van; SOUCEK, Pavel; GOETZ, Mara; EROSS, Balint; CAVESTRO, Giulia Martina; BASSO, Daniela; PERRI, Francesco; LANDI, Stefano; CANZIAN, Federico; CAMPA, Daniele
    Coding sequence variants comprise a small fraction of the germline genetic variability of the human genome. However, they often cause deleterious change in protein function and are therefore associated with pathogenic phenotypes. To identify novel pancreatic ductal adenocarcinoma (PDAC) risk loci, we carried out a complete scan of all common missense and synonymous SNPs and analysed them in a case-control study comprising four different populations, for a total of 14 538 PDAC cases and 190 657 controls. We observed a statistically significant association between 13q12.2-rs9581957-T and PDAC risk (P = 2.46 x 10(-9)), that is in linkage disequilibrium (LD) with a deleterious missense variant (rs9579139) of the URAD gene. Recent findings suggest that this gene is active in peroxisomes. Considering that peroxisomes have a key role as molecular scavengers, especially in eliminating reactive oxygen species, a malfunctioning URAD protein might expose the cell to a higher load of potentially DNA damaging molecules and therefore increase PDAC risk. The association was observed in individuals of European and Asian ethnicity. We also observed the association of the missense variant 15q24.1-rs2277598-T, that belongs to BBS4 gene, with increased PDAC risk (P = 1.53 x 10(-6)). rs2277598 is associated with body mass index and is in LD with diabetes susceptibility loci. In conclusion, we identified two missense variants associated with the risk of developing PDAC independently from the ethnicity highlighting the importance of conducting re-analysis of genome-wide association studies (GWASs) in light of functional data. [GRAPHICS] .