Session Type: ACR Poster Session B
Session Time: 9:00AM-11:00AM
Background/Purpose: In order to search for susceptibility loci, we undertook a genome wide association (GWA) scan to identify genetic factors predisposing to Psoriatic Arthritis (PsA) and its clinical subsets in italian population.
Methods: This is a multicenter italian study involving 9 rheumatological centres localized in the main four macro-areas of Italy. We enrolled 835 consecutive PsA patients diagnosed according to CASPAR criteria. The control group consisted of 773 sex and geographical origin matched people recruited from healthy blood donors. Each sample was genotyped using the SNPs microarray Illumina CoreExome24 BeadChip. A whole-genome screening of common variants (SNPs) and structural variants (CNVs) on each cohort was performed. Moreover PsA patients were stratified according to their clinical patterns as peripheral (PPA), axial (APA), or mixed involvement (APPA).
Results: The association studies showed 40 markers with p<7.40×10-5 located on chromosome 6 in HLA-B region among PsA patients vs healthy controls. We found highly significant association with
Conclusion: We have confirmed a strong association with PsA and high number of loci located on chromosome 6. A new association was found on chromosome 15. We found no association with SNPs localized in HLA-C region as already observed in other GWA studies. Replication of these variants in multiple larger populations is necessary.
To cite this abstract in AMA style:Catanoso M, Macchioni P, D'Angelo S, Marchesoni A, Ramonda R, Cauli A, Perrotta FM, Bortolotti R, Provenzano G, Pistone G, Boito K, Giuliani C, Garagnani P, Gentilini D, Lofrano M, Rotunno L, Lorenzin M, Olivieri I, Mathieu A, Valesini G, Paolazzi G, Baricchi R, Di Blasio AM, Boiardi L, Franceschi C, Salvarani C. A Genome-Wide Association Study of Psoriatic Arthritis in Italian Population [abstract]. Arthritis Rheumatol. 2016; 68 (suppl 10). https://acrabstracts.org/abstract/a-genome-wide-association-study-of-psoriatic-arthritis-in-italian-population/. Accessed November 30, 2020.
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