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Vol. 61, No. 2, 2006
Issue release date: June 2006
Section title: Short Communication
Hum Hered 2006;61:120–122
(DOI:10.1159/000093529)

PSORS2 Markers Are Not Associated with Psoriatic Arthritis in the Italian Population

Giardina E.a · Predazzi I.a · Sinibaldi C.a · Peconi C.a · Amerio P.b · Costanzo A.c · Paradisi A.d · Capizzi R.d · Paradisi M.e · Chimenti S.c · Taccari E.f · Novelli G.a, g, h
aCentre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, bDermatological Unit, University of Chieti, Chieti, cDepartment of Dermatology, University of Rome, ‘Tor Vergata’, dDepartment of Dermatology, Catholic University of Sacred Heart, eVII Division, Pediatric Dermatology, Istituto Dermopatico Dell’Immacolata IRCCS, fDepartment of Applied Medical and Clinical Therapy, Division of Rheumatology, University ‘La Sapienza’, and gOspedale S. Pietro Fatebenefratelli, Roma, Italy; hDivision of Cardiovascular Medicine, Department of Medicine, University of Arkansas for Medical Sciences, Little Rock, Ark., USA
email Corresponding Author

Abstract

Psoriatic arthritis (PsA) is a chronic inflammatory arthropathy characterized by the association of arthritis and psoriasis (Ps). The precise etiology of PsA is unknown, but epidemiological studies supported the existence of a genetic component for the disease. Here we report an association study on a large PsA Italian cohort for DNA variants recently reported as associated alleles at PSORS2 (17q25) in Ps cohorts from the US. We focused on discovering a possible involvement of PSORS2 associated SNPs in pathogenesis of PsA. We selected two SNPs (rs7420, rs734232) within the proximal peak and two SNPs (rs869190 and rs1561946) within distal peak of PSORS2. Our results ruled out PSORS2 alleles as susceptibility factors in arthritis psoriatic patients of Italian origin and suggested that previous linkage signal reported for chromosome 17q25 should be independent on the presence of PsA.

© 2006 S. Karger AG, Basel


  

Key Words

  • Psoriatic arthritis
  • Psoriasis
  • PSORS2
  • RUNX1
  • Association study

References

  1. Ritchlin CT: Pathogenesis of psoriatic arthritis. Curr Opin Rheumatol 2005;17:406–412.
  2. Gladman DD: Psoriatic arthritis. Rheum Dis Clin North Am 1998;24:829–844.
  3. Gladman DD, Farewell VT,Nadeau C: Clinical indicators of progression in psoriatic arthritis: multivariate relative risk model. J Rheumatol 1995;22:675–679.
  4. Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffeman M, Daw JA, Robarge J, Ott J, Kwok PY, Menter A, Bowcock AM: A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 2003;35:349–356.
  5. Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina MA, Young M, Lory D, Morris L, Wuepper KD, Stastny P, Menter A, Bowcock AM: Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science 1994;264:1141–1145.
  6. Dougados M, van der Linden S, Juhlin R, Huitfeld B, Amor B, Calin A: The European Spondylarthropathy Study Group preliminary criteria for the classification of spondylarthropathy. Arthritis Rheum 1991;34:1218–1227.
  7. Stephens M, Smith NJ, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68:978–989.
  8. Gudjonsson JE, Karason A, Antonsdottir AA, Runarsdottir EH, Hauksson VB, Upmanyu R, Gulcher J, Stefansson K, Valdimarsson H: HLA-Cw6-positive and HLA-Cw6-negative patients with Psoriasis vulgaris have distinct clinical features. J Invest Dermatol 2002;118:362–365.
  9. Huffmeier U, Traupe H, Burkhardt H, Shurmeier-Horst F, Lascorz J, Bohm B, Lohmann J, Stander M, Wendler J, Kelsch R, Baumann C, Kuster W, Wienker TF, Reis A: Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohort. J Invest Dermatol 2005;124:107–110.
  10. Berger M, Stassen HH, Kohler K, Krane V, Monks D, Wanner C, Hoffmann K, Hoffmann MM, Zimmer M, Bickeboller H, Lindner TH: Hidden population substructures in an apparently homogeneous population bias association studies. Eur J Hum Genet 2006;14:236–244.

  

Author Contacts

Emiliano Giardina
Via Montpellier, 1
IT–00133 Roma (Italy)
Tel. +39 06 7259 6072, +39 06 2090 0665, Fax +39 06 2090 0669
E-Mail emiliano.giardina@uniroma2.it

  

Article Information

Received: January 20, 2006
Accepted after revision: March 28, 2006
Published online: May 30, 2006
Number of Print Pages : 3
Number of Figures : 0, Number of Tables : 1, Number of References : 10

  

Publication Details

Human Heredity (International Journal of Human and Medical Genetics)

Vol. 61, No. 2, Year 2006 (Cover Date: June 2006)

Journal Editor: Devoto, M. (Philadelphia, Pa.)
ISSN: 0001–5652 (print), 1423–0062 (Online)

For additional information: http://www.karger.com/HHE


Copyright / Drug Dosage / Disclaimer

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

Abstract

Psoriatic arthritis (PsA) is a chronic inflammatory arthropathy characterized by the association of arthritis and psoriasis (Ps). The precise etiology of PsA is unknown, but epidemiological studies supported the existence of a genetic component for the disease. Here we report an association study on a large PsA Italian cohort for DNA variants recently reported as associated alleles at PSORS2 (17q25) in Ps cohorts from the US. We focused on discovering a possible involvement of PSORS2 associated SNPs in pathogenesis of PsA. We selected two SNPs (rs7420, rs734232) within the proximal peak and two SNPs (rs869190 and rs1561946) within distal peak of PSORS2. Our results ruled out PSORS2 alleles as susceptibility factors in arthritis psoriatic patients of Italian origin and suggested that previous linkage signal reported for chromosome 17q25 should be independent on the presence of PsA.

© 2006 S. Karger AG, Basel


  

Author Contacts

Emiliano Giardina
Via Montpellier, 1
IT–00133 Roma (Italy)
Tel. +39 06 7259 6072, +39 06 2090 0665, Fax +39 06 2090 0669
E-Mail emiliano.giardina@uniroma2.it

  

Article Information

Received: January 20, 2006
Accepted after revision: March 28, 2006
Published online: May 30, 2006
Number of Print Pages : 3
Number of Figures : 0, Number of Tables : 1, Number of References : 10

  

Publication Details

Human Heredity (International Journal of Human and Medical Genetics)

Vol. 61, No. 2, Year 2006 (Cover Date: June 2006)

Journal Editor: Devoto, M. (Philadelphia, Pa.)
ISSN: 0001–5652 (print), 1423–0062 (Online)

For additional information: http://www.karger.com/HHE


Article / Publication Details

First-Page Preview
Abstract of Short Communication

Received: 1/20/2006
Accepted: 3/28/2006
Published online: 6/15/2006
Issue release date: June 2006

Number of Print Pages: 3
Number of Figures: 0
Number of Tables: 1

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

References

  1. Ritchlin CT: Pathogenesis of psoriatic arthritis. Curr Opin Rheumatol 2005;17:406–412.
  2. Gladman DD: Psoriatic arthritis. Rheum Dis Clin North Am 1998;24:829–844.
  3. Gladman DD, Farewell VT,Nadeau C: Clinical indicators of progression in psoriatic arthritis: multivariate relative risk model. J Rheumatol 1995;22:675–679.
  4. Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffeman M, Daw JA, Robarge J, Ott J, Kwok PY, Menter A, Bowcock AM: A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 2003;35:349–356.
  5. Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina MA, Young M, Lory D, Morris L, Wuepper KD, Stastny P, Menter A, Bowcock AM: Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science 1994;264:1141–1145.
  6. Dougados M, van der Linden S, Juhlin R, Huitfeld B, Amor B, Calin A: The European Spondylarthropathy Study Group preliminary criteria for the classification of spondylarthropathy. Arthritis Rheum 1991;34:1218–1227.
  7. Stephens M, Smith NJ, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68:978–989.
  8. Gudjonsson JE, Karason A, Antonsdottir AA, Runarsdottir EH, Hauksson VB, Upmanyu R, Gulcher J, Stefansson K, Valdimarsson H: HLA-Cw6-positive and HLA-Cw6-negative patients with Psoriasis vulgaris have distinct clinical features. J Invest Dermatol 2002;118:362–365.
  9. Huffmeier U, Traupe H, Burkhardt H, Shurmeier-Horst F, Lascorz J, Bohm B, Lohmann J, Stander M, Wendler J, Kelsch R, Baumann C, Kuster W, Wienker TF, Reis A: Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohort. J Invest Dermatol 2005;124:107–110.
  10. Berger M, Stassen HH, Kohler K, Krane V, Monks D, Wanner C, Hoffmann K, Hoffmann MM, Zimmer M, Bickeboller H, Lindner TH: Hidden population substructures in an apparently homogeneous population bias association studies. Eur J Hum Genet 2006;14:236–244.