Repository logo
 
Publication

Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis

2020Journal article Open access
Simple item page
dc.contributor.authorParreira, B.
dc.contributor.authorCouto, A. R.
dc.contributor.authorRocha, F.
dc.contributor.authorSousa, M.
dc.contributor.authorFaustino, V.
dc.contributor.authorPower, Deborah
dc.contributor.authorBruges-Armas, J.
dc.date.accessioned2020-09-28T16:03:10Z
dc.date.available2020-09-28T16:03:10Z
dc.date.issued2020
dc.description.abstractObjectives: 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.pt_PT
dc.description.sponsorshipFRCT: M3.1.2/F/023/2011pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.issn0303-464X
dc.identifier.urihttp://hdl.handle.net/10400.1/14750
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSociedade Portuguesa de Reumatologiapt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectRheumatic and musculoskeletal diseasespt_PT
dc.subjectRheumatologypt_PT
dc.subjectGenetic associationpt_PT
dc.titleWhole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage126pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage116pt_PT
oaire.citation.titleActa Reumatologica Portuguesapt_PT
oaire.citation.volume45pt_PT
person.familyNamePower
person.givenNameDeborah Mary
person.identifier.ciencia-id891A-8A44-3CAE
person.identifier.orcid0000-0003-1366-0246
person.identifier.scopus-author-id7101806760
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationc68f5ffb-63f6-4c70-8957-29e464fb59c0
relation.isAuthorOfPublication.latestForDiscoveryc68f5ffb-63f6-4c70-8957-29e464fb59c0

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
1298_whole_exome_sequencing_of_patients_with_diffuse_idiopathic_skeletal_hyperostosis_and_calcium_pyrophosphate_crystal_chondrocalcinosis_file.pdf
Size:
2.67 MB
Format:
Adobe Portable Document Format
Download

Collections

CCM2-Artigos (em revistas ou actas indexadas)