Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2020 |
| Outros Autores: | , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10362/139246 |
Resumo: | Funding: The authors thank all the patients who participated in this research and made it possible. We also thank Isa Dutra (MSc), João Paulo Pinheiro (BsC) and Raquel Meneses (BsC) from Hospital Santo Espírito da Ilha Terceira, EPE, Epidemiology and Molecular Biology Service (SEEBMO), Angra do Heroísmo, Portugal, who performed the DNA extractions and Vânia Machado (MSc), who participated in the elaboration of the pedigrees. BP wassupported by “Fundo Regional para a Ciência e Tecnologia (FRCT)” (M3.1.2/F/023/2011) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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7160 |
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Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosisGenetic associationRheumatic and musculoskeletal diseasesRheumatologyMedicine(all)Funding: The authors thank all the patients who participated in this research and made it possible. We also thank Isa Dutra (MSc), João Paulo Pinheiro (BsC) and Raquel Meneses (BsC) from Hospital Santo Espírito da Ilha Terceira, EPE, Epidemiology and Molecular Biology Service (SEEBMO), Angra do Heroísmo, Portugal, who performed the DNA extractions and Vânia Machado (MSc), who participated in the elaboration of the pedigrees. BP wassupported by “Fundo Regional para a Ciência e Tecnologia (FRCT)” (M3.1.2/F/023/2011)Objectives: DISH/CC is a poorly understood phenotype characterised by peripheral and axial enthesopathic calcifications, frequently fulfilling the radiological criteria for Diffuse Idiopathic Skeletal Hyperostosis (DISH, MIM 106400), and in some cases associated with Calcium Pyrophosphate Dihydrate (CPPD) Chondrocalcinosis (CC). The concurrence of DISH and CC suggests a shared pathogenic mechanism. In order to identify genetic variants for susceptibility we performed whole exome sequencing in four patients showing this phenotype. Materials and methods: Exome data were filtered in order to find a variant or a group of variants that could be associated with the DISH/CC phenotype. Variants of interest were subsequently confirmed by Sanger sequencing. Selected variants were screened in a cohort of 65 DISH/CC patients vs 118 controls from Azores. The statistical analysis was performed using PLINK V1.07. Results:We identified 21 genetic variants in 17 genes that were directly or indirectly related to mineralization, several are predicted to have a strong effect at a protein level. Phylogenetic analysis of altered amino acids indicates that these are either highly conserved in vertebrates or conserved in mammals. In case-control analyses, variant rs34473884 in PPP2R2D was significantly associated with the DISH/CC phenotype (p=0.028; OR=1.789, 95% CI= 1.060-3.021). Conclusion: The results of the present and preceding studies with the DISH/CC families suggests that the phenotype has a polygenic basis. The PPP2R2D gene could be involved in this phenotype in an as yet unknown way.Comprehensive Health Research Centre (CHRC) - pólo NMSRUNParreira, BrunaCouto, A. R.Rocha, F.Sousa, M.Faustino, V.Power, D. M.Bruges-Armas, J.2022-06-01T22:27:37Z2020-04-012020-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article11application/pdfhttp://hdl.handle.net/10362/139246eng0303-464XPURE: 44388572info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:16:35Zoai:run.unl.pt:10362/139246Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:49:22.751259Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis |
| title |
Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis |
| spellingShingle |
Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis Parreira, Bruna Genetic association Rheumatic and musculoskeletal diseases Rheumatology Medicine(all) |
| title_short |
Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis |
| title_full |
Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis |
| title_fullStr |
Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis |
| title_full_unstemmed |
Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis |
| title_sort |
Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis |
| author |
Parreira, Bruna |
| author_facet |
Parreira, Bruna Couto, A. R. Rocha, F. Sousa, M. Faustino, V. Power, D. M. Bruges-Armas, J. |
| author_role |
author |
| author2 |
Couto, A. R. Rocha, F. Sousa, M. Faustino, V. Power, D. M. Bruges-Armas, J. |
| author2_role |
author author author author author author |
| dc.contributor.none.fl_str_mv |
Comprehensive Health Research Centre (CHRC) - pólo NMS RUN |
| dc.contributor.author.fl_str_mv |
Parreira, Bruna Couto, A. R. Rocha, F. Sousa, M. Faustino, V. Power, D. M. Bruges-Armas, J. |
| dc.subject.por.fl_str_mv |
Genetic association Rheumatic and musculoskeletal diseases Rheumatology Medicine(all) |
| topic |
Genetic association Rheumatic and musculoskeletal diseases Rheumatology Medicine(all) |
| description |
Funding: The authors thank all the patients who participated in this research and made it possible. We also thank Isa Dutra (MSc), João Paulo Pinheiro (BsC) and Raquel Meneses (BsC) from Hospital Santo Espírito da Ilha Terceira, EPE, Epidemiology and Molecular Biology Service (SEEBMO), Angra do Heroísmo, Portugal, who performed the DNA extractions and Vânia Machado (MSc), who participated in the elaboration of the pedigrees. BP wassupported by “Fundo Regional para a Ciência e Tecnologia (FRCT)” (M3.1.2/F/023/2011) |
| publishDate |
2020 |
| dc.date.none.fl_str_mv |
2020-04-01 2020-04-01T00:00:00Z 2022-06-01T22:27:37Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10362/139246 |
| url |
http://hdl.handle.net/10362/139246 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
0303-464X PURE: 44388572 |
| dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
| dc.format.none.fl_str_mv |
11 application/pdf |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
| instacron_str |
RCAAP |
| institution |
RCAAP |
| reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799138092755451904 |