Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Mar 4:13:23-29.
doi: 10.2147/OARRR.S291391. eCollection 2021.

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 Cauli  1
Affiliations

Gene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis

Maria Maddalena Angioni et al. Open Access Rheumatol. .

Abstract

Introduction: 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: diseases in twin; environment–gene interaction; gene expression profiling; genetic; joint erosions; psoriatic arthritis.

PubMed Disclaimer

Conflict of interest statement

Prof. Dr. Alberto Cauli reports personal fees from Abbvie, BMS, Celgene, Galapagos, Janssen, MSD, Sanofi, Alfa Sigma, UCB, and Lilly, grants and personal fees from Pfizer and Novartis, and non-financial support from Roche, outside the submitted work. The authors declare that they have no other potential conflicts of interest for this work.

Figures

Figure 1
Figure 1
Radiographic findings in twin A and twin B. Characteristic erosive and osteoproliferative alterations including typical pencil in cup lesions are evident; tarsal and metatarsal joints of both feet were involved in twin A (A and B). In twin B (D and E) X-ray show less severe lesions, of note the erosive findings in the first PIP of the left foot (E). Sacroiliitis was detectable in both patients (C and F).
Figure 2
Figure 2
Overlapping Canonical Pathways map generated by Ingenuity Pathway Analysis. A pathway network was generated representing from the top of overrepresented pathways determined by IPA, to reveal shared biology among the identified candidate genes. Notes: edge-connected canonical pathways share one or more genes in common. Nodes represent pathways and bright red represents more significant canonical pathways in the gene set. The canonical pathways map was generated by QIAGEN’s Ingenuity Pathway Analysis (QIAGEN Inc., https://www.qiagenbioinformatics.com/products/ingenuity-pathway-analysis).
See this image and copyright information in PMC

References

    1. Moll JM, Wright V. Familial occurrence of psoriatic arthritis.. Ann Rheum Dis. 1973;32(3):181–201. doi:10.1136/ard.32.3.181 - DOI - PMC - PubMed
    1. Rahman P, Elder JT. Genetic epidemiology of psoriasis and psoriatic arthritis.. Ann Rheum Dis. 2005;64 Suppl 2(Suppl 2):ii37–ii41. doi:10.1136/ard.2004.030775 - DOI - PMC - PubMed
    1. Rahman P, Gladman DD, Schentag CT, Petronis A. Excessive paternal transmission in psoriatic arthritis. Arthritis Rheum. 1999;42(6):1228–1231. - PubMed
    1. Pedersen OB, Svendsen AJ, Ejstrup L, Skytthe A, Junker P. On the heritability of psoriatic arthritis. Disease concordance among monozygotic and dizygotic twins. Ann Rheum Dis. 2008;67(10):1417–1421. - PubMed
    1. Chandran V, Schentag CT, Brockbank JE, et al. Familial aggregation of psoriatic arthritis. Ann Rheum Dis. 2009;68(5):664–667. - PubMed