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Scand J Rheumatol. 2017 May;46(3):180-186. doi: 10.1080/03009742.2016.1199734. Epub 2016 Jul 20.

Investigation of the genetic overlap between rheumatoid arthritis and psoriatic arthritis in a Greek population.

Author information

a Laboratory of Molecular Medicine and Human Genetics, Department of Internal Medicine , School of Medicine, University of Crete , Heraklion , Greece.
b Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research , Institute for Inflammation and Repair, Manchester Academic Health Science Centre, The University of Manchester , Manchester , UK.
c NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre , Manchester , UK.
d Laboratory of Genetics, Department of Biotechnology , Agricultural University of Athens , Athens , Greece.
e Department of Biochemistry , School of Medicine, University of Crete and Institute of Molecular Biology and Biotechnology of Crete , Heraklion , Greece.
f Institute of Molecular Biology and Biotechnology, FORTH , Heraklion , Crete , Greece.
g Faculty of Medicine , University of Athens , Athens , Greece.
h Department of Rheumatology, Clinical Immunology and Allergy, Faculty of Medicine , University of Crete , Heraklion , Greece.
i The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre , Manchester , UK.



Several rheumatoid arthritis (RA) susceptibility loci have also been found to be associated with psoriatic arthritis (PsA), demonstrating that there is a degree of genetic overlap between various autoimmune diseases. We sought to investigate whether single nucleotide polymorphisms (SNPs) mapping to previously reported RA and/or PsA susceptibility loci, including PLCL2, CCL21, REL, STAT4, CD226, PTPN22, and TYK2, are associated with risk for the two diseases in a genetically homogeneous Greek population.


This study included 392 RA patients, 126 PsA patients, and 521 healthy age- and sex-matched controls from Greece. Genotyping of the SNPs was performed with Taqman primer/probe sets. Bioinformatic analysis was performed using BlastP, PyMOL, and Maestro and Desmond.


A significant association was detected between the GC genotype of rs34536443 (TYK2) in both the PsA and RA cohorts. The C allele of this SNP was associated with PsA only. Evidence for association with PsA was also found for the GG genotype and G allele of the rs10181656 SNP of STAT4. The TC genotype of the rs763361 SNP of CD226 was associated with PsA only.


Genetic overlap between PsA and RA was detected for the rs34536443 SNP of the TYK2 gene within a Greek population. An association of STAT4 (rs10181656) with PsA was confirmed whereas CD226 (rs763361) was associated with PsA but not with RA, in contrast to previous reports. The different findings of this study compared to previous ones highlights the importance of comparative studies that include various ethnic or racial populations.

[Indexed for MEDLINE]

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