Gene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis

Maria Maddalena Angioni,1 Alberto Floris,1 Ignazio Cangemi,1 Mattia Congia,1 Elisabetta Chessa,1 Sandro Orrù,2 Matteo Piga,1 Alberto Cauli1 1Rheumatology Unit, Department of Medical Sciences and Public Health, University of Cagliari, University Clinic AOU, Cagliari, 09042, Italy; 2Medical...

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Autores principales: Angioni MM, Floris A, Cangemi I, Congia M, Chessa E, Orrù S, Piga M, Cauli A
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Publicado: Dove Medical Press 2021
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spelling oai:doaj.org-article:ee88d5f1a6da44d2b46a029a86323cb42021-12-02T10:37:31ZGene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis1179-156Xhttps://doaj.org/article/ee88d5f1a6da44d2b46a029a86323cb42021-03-01T00:00:00Zhttps://www.dovepress.com/gene-expression-profiling-of-monozygotic-twins-affected-by-psoriatic-a-peer-reviewed-article-OARRRhttps://doaj.org/toc/1179-156XMaria Maddalena Angioni,1 Alberto Floris,1 Ignazio Cangemi,1 Mattia Congia,1 Elisabetta Chessa,1 Sandro Orrù,2 Matteo Piga,1 Alberto Cauli1 1Rheumatology Unit, Department of Medical Sciences and Public Health, University of Cagliari, University Clinic AOU, Cagliari, 09042, Italy; 2Medical Genetics, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, 09042, ItalyCorrespondence: Maria Maddalena AngioniRheumatology Unit, Department of Medical Sciences and Public Health, University of Cagliari, University Clinic AOU Cagliari, S.S. 554, Bivio per Sestu, Monserrato, Cagliari, 09042, ItalyTel +39 07051093340Email m.maddalena.angioni@gmail.comIntroduction: Psoriatic Arthritis (PsA) is a multifactorial disease, where the relative burden of genetic, epigenetic and environmental factors in clinical course and damage accrual is not yet definitively clarified. In clinical practice, there is a real need for useful candidate biomarkers in PsA diagnosis and disease progression, by exploring its underlying transcriptomic and epigenomic mechanisms. This work aims to profile the transcriptome in monozygotic (MZ) twins with psoriatic arthritis (PsA) highly concordant for clinical presentation, but discordant for the radiographic outcomes’ severity.Methods: We describe i) the clinical case of two MZ twins; ii) their comparative gene expression profiling (HTA 2.0 Affymetrix) and iii) signal pathways and pathophysiological processes in which differentially expressed genes are involved (in silico analysis by the IPA software, QIAGEN).Results: One hundred sixty-three transcripts and 36 coding genes (28 up and 8 down) were differentially expressed between twins, and in the brother with the most erosive form, the transcriptomic profiling highlights the overexpression of genes known to be involved in immunomodulatory processes and on a broad spectrum of PsA manifestations.Discussion: Twins’ clinical cases are still a gold mine in medical research: twin brothers are ideal experimental models in estimating the relative importance of genetic versus nongenetic components as determinants of complex phenotypes, non-Mendelian and multifactorial diseases as PsA.Keywords: psoriatic arthritis, gene expression profiling, diseases in twin, genetic, environment–gene interaction, joint erosionsAngioni MMFloris ACangemi ICongia MChessa EOrrù SPiga MCauli ADove Medical Pressarticlepsoriatic arthritisgene expression profilingdiseases in twingeneticenvironment-gene interactionjoint erosionsDiseases of the musculoskeletal systemRC925-935ENOpen Access Rheumatology: Research and Reviews, Vol Volume 13, Pp 23-29 (2021)
institution DOAJ
collection DOAJ
language EN
topic psoriatic arthritis
gene expression profiling
diseases in twin
genetic
environment-gene interaction
joint erosions
Diseases of the musculoskeletal system
RC925-935
spellingShingle psoriatic arthritis
gene expression profiling
diseases in twin
genetic
environment-gene interaction
joint erosions
Diseases of the musculoskeletal system
RC925-935
Angioni MM
Floris A
Cangemi I
Congia M
Chessa E
Orrù S
Piga M
Cauli A
Gene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis
description Maria Maddalena Angioni,1 Alberto Floris,1 Ignazio Cangemi,1 Mattia Congia,1 Elisabetta Chessa,1 Sandro Orrù,2 Matteo Piga,1 Alberto Cauli1 1Rheumatology Unit, Department of Medical Sciences and Public Health, University of Cagliari, University Clinic AOU, Cagliari, 09042, Italy; 2Medical Genetics, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, 09042, ItalyCorrespondence: Maria Maddalena AngioniRheumatology Unit, Department of Medical Sciences and Public Health, University of Cagliari, University Clinic AOU Cagliari, S.S. 554, Bivio per Sestu, Monserrato, Cagliari, 09042, ItalyTel +39 07051093340Email m.maddalena.angioni@gmail.comIntroduction: Psoriatic Arthritis (PsA) is a multifactorial disease, where the relative burden of genetic, epigenetic and environmental factors in clinical course and damage accrual is not yet definitively clarified. In clinical practice, there is a real need for useful candidate biomarkers in PsA diagnosis and disease progression, by exploring its underlying transcriptomic and epigenomic mechanisms. This work aims to profile the transcriptome in monozygotic (MZ) twins with psoriatic arthritis (PsA) highly concordant for clinical presentation, but discordant for the radiographic outcomes’ severity.Methods: We describe i) the clinical case of two MZ twins; ii) their comparative gene expression profiling (HTA 2.0 Affymetrix) and iii) signal pathways and pathophysiological processes in which differentially expressed genes are involved (in silico analysis by the IPA software, QIAGEN).Results: One hundred sixty-three transcripts and 36 coding genes (28 up and 8 down) were differentially expressed between twins, and in the brother with the most erosive form, the transcriptomic profiling highlights the overexpression of genes known to be involved in immunomodulatory processes and on a broad spectrum of PsA manifestations.Discussion: Twins’ clinical cases are still a gold mine in medical research: twin brothers are ideal experimental models in estimating the relative importance of genetic versus nongenetic components as determinants of complex phenotypes, non-Mendelian and multifactorial diseases as PsA.Keywords: psoriatic arthritis, gene expression profiling, diseases in twin, genetic, environment–gene interaction, joint erosions
format article
author Angioni MM
Floris A
Cangemi I
Congia M
Chessa E
Orrù S
Piga M
Cauli A
author_facet Angioni MM
Floris A
Cangemi I
Congia M
Chessa E
Orrù S
Piga M
Cauli A
author_sort Angioni MM
title Gene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis
title_short Gene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis
title_full Gene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis
title_fullStr Gene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis
title_full_unstemmed Gene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis
title_sort gene expression profiling of monozygotic twins affected by psoriatic arthritis
publisher Dove Medical Press
publishDate 2021
url https://doaj.org/article/ee88d5f1a6da44d2b46a029a86323cb4
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