ACR Meeting Abstracts

ACR Meeting Abstracts

Abstract Number: 1210

A Genome-Wide Association Study of Psoriatic Arthritis in Italian Population

Mariagrazia Catanoso1, Pierluigi Macchioni1, Salvatore D'Angelo2, Antonio Marchesoni3, Roberta Ramonda4, Alberto Cauli5, Fabio Massimo Perrotta6, Roberto Bortolotti7, Guseppe Provenzano8, Giovanni Pistone9, Katya Boito10, Cristina Giuliani11, Paolo Garagnani11, Davide Gentilini12, Mariana Lofrano13, Laura Rotunno14, Mariagrazia Lorenzin15, Ignazio Olivieri13, Alessandro Mathieu16, Guido Valesini17, Giuseppe Paolazzi7, Roberto Baricchi18, Anna Maria Di Blasio12, Luigi Boiardi19, Claudio Franceschi20 and Carlo Salvarani1, 1Rheumatology Unit, Arcispedale S Maria Nuova, IRCCS, Reggio Emilia, Italy, 2Rheumatology Department of Lucania, San Carlo Hospital of Potenza and Madonna delle Grazie Hospital of Matera, matera, Italy, 3Rheumatology Unit, Orthopedic Institute G. Pini, Milano, Italy, 4Rheumatology Unit, Department of Medicine DIMED, University of Padova, Padova, Italy, 5University of Cagliari, Cagliari, Italy, 6Rheumatology Unit, Sapienza University, Department of Internal Medicine and Medical Specialties, Roma, Italy, 7Rheumatology Unit, Santa Chiara Hospital, Trento, Italy, 8Reumatology Unit, Villa Sofia-CTO Hospital, Palermo, Italy, 9Rheumatology Unit, ARNAS Civico, Di Cristina e Benfratelli Hospital, Palermo, Italy, 10Transfusion Medicine Unit,, Arcispedale S. Maria Nuova, IRCCS, Reggio Emilia, Italy, 11Laboratory of Molecular Anthropology, Centre for Genome Biology University, Bologna, Italy, 12Laboratory of Molecular Biology, Istituto Auxologico Italiano, IRCCS, Milano, Italy, 13Rheumatology Department of Lucania, San Carlo Hospital of Potenza and Madonna delle Grazie Hospital of Matera, Matera, Italy, 14Orthopedic Institute G.Pini, Rheumatology Unit, Milano, Italy, 15Department of Medicine, University of Padova - Rheumatology Unit, Padova, Italy, 16Department of Medical Sciences, Rheumatology Unit - University of Cagliari, Cagliari, Italy, 17Internal Medicine and Medical Specialties Department, Policlinico Umberto I, La Sapienza University of Rome, Roma, Italy, 18Transfusion Medicine Unit, IRCCS S. Maria Nuova Hospital, Reggio Emilia, Italy, 19Rheumatology Unit, Arcispedale S.Maria Nuova, IRCCS, Reggio Emilia, Italy, 20Laboratory of Molecular Anthropology & Centre for Genome Biology University of Bologna, Bologna, Italy

Meeting: 2016 ACR/ARHP Annual Meeting

Date of first publication: September 28, 2016

Keywords: , , ,

Session Information

Date: Monday, November 14, 2016

Title: Genetics, Genomics and Proteomics - Poster II

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 rs3916765 (p=5.39 x 10-12, OR 2.669, 95%CI =2 – 3.56), exm-rs12191877 (p=4.87 x10-10, OR 1.731, 95%CI =1.46-2.06), rs13191519 (p=7.76 x 10-9, OR 1.609, 95%CI =1.37-1.89), exm-rs4947248 (p=1.98 x10-9 , OR 1.56, 95%CI = 1.35-1.80). Moreover, in PsA patients we identified signals of association from a region on chromosome 15q21 harboring USP8 gene (p=6.25 x 10-9 , OR 1.627, 95%CI =1.38-1.92). Among these identified risk variants, two were strongly associated only with PPA [exm-rs12191877 (p=1.27 x10-9,OR 1.76, 95%CI =1.46-2.11), rs3916765 (p=2.55 x 10-11, OR 2.68, 95%CI =1.99-3.61)] but not with mixed clinical pattern. Moreover , PsA patients with mixed clinical pattern did not shown associations on chromosome 6 in HlA-B region. No SNPs association was found comparing axial or mixed form with healthy controls.

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.  

Disclosure: M. Catanoso, None; P. Macchioni, None; S. D'Angelo, None; A. Marchesoni, None; R. Ramonda, None; A. Cauli, None; F. M. Perrotta, None; R. Bortolotti, None; G. Provenzano, None; G. Pistone, None; K. Boito, None; C. Giuliani, None; P. Garagnani, None; D. Gentilini, None; M. Lofrano, None; L. Rotunno, None; M. Lorenzin, None; I. Olivieri, None; A. Mathieu, None; G. Valesini, None; G. Paolazzi, None; R. Baricchi, None; A. M. Di Blasio, None; L. Boiardi, None; C. Franceschi, None; C. Salvarani, None.

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 .

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