A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients

Giada De Benedittis; Andrea Latini; Paola Conigliaro; Paola Triggianese; Alberto Bergamini; Lucia Novelli; Cinzia Ciccacci; Maria Sole Chimenti; Paola Borgiani

doi:10.1016/j.imbio.2022.152232

A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients

Immunobiology. 2022 Jul;227(4):152232. doi: 10.1016/j.imbio.2022.152232. Epub 2022 May 23.

Authors

Giada De Benedittis¹, Andrea Latini¹, Paola Conigliaro², Paola Triggianese², Alberto Bergamini², Lucia Novelli³, Cinzia Ciccacci⁴, Maria Sole Chimenti², Paola Borgiani¹

Affiliations

¹ Department of Biomedicine and Prevention, Section of Genetics, University of Rome "Tor Vergata", 00133 Rome, Italy.
² Rheumatology, Allergology and Clinical Immunology, Department of System Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy.
³ UniCamillus-Saint Camillus International University of Health Sciences, 00131 Rome, Italy.
⁴ UniCamillus-Saint Camillus International University of Health Sciences, 00131 Rome, Italy. Electronic address: cinzia.ciccacci@unicamillus.org.

PMID: 35642993
DOI: 10.1016/j.imbio.2022.152232

Abstract

Psoriatic Arthritis (PsA) is an immune-mediated rheumatic disease caused by the interaction between environmental factors and genetic predisposition. Many of the risk loci associated with PsA susceptibility are shared with other autoimmune diseases, suggesting an involvement of the same pathways in these diseases. We investigated the association between nine selected polymorphisms and PsA susceptibility and their possible role in the modulation of the disease activity. We analysed 163 patients with PsA and 298 age and sex-matched healthy subjects. Our results showed the associations of five polymorphisms with the disease development: rs33980500 (TRAF3IP2), rs6920220 (TNFAIP3), rs27524 (ERAP1), rs7574865 (STAT4) and rs1800872 (IL10). Patients carrying the variant allele of TRAF3IP2 polymorphism had a higher number of tender/swollen joints and a higher Disease Activity Index for PsA score. The multilocus genetic risk profile showed a higher probability to develop the disease in subjects with at least four risk alleles.

Keywords: Autoimmune-related genes; Genetic susceptibility; Polymorphisms; Psoriatic Arthritis.

MeSH terms

Alleles
Aminopeptidases / genetics
Arthritis, Psoriatic* / genetics
Case-Control Studies
Genetic Predisposition to Disease
Genotype
Humans
Interleukin-10 / genetics
Minor Histocompatibility Antigens
Polymorphism, Single Nucleotide
RNA* / genetics
STAT4 Transcription Factor / genetics
Tumor Necrosis Factor alpha-Induced Protein 3 / genetics

Substances

IL10 protein, human
Minor Histocompatibility Antigens
STAT4 Transcription Factor
STAT4 protein, human
TRAF3IP2-AS1 antisense RNA, human
Interleukin-10
RNA
Aminopeptidases
ERAP1 protein, human
TNFAIP3 protein, human
Tumor Necrosis Factor alpha-Induced Protein 3