PTPN22 R620W polymorphism in the ANCA-associated vasculitides (original) (raw)

Journal Article

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

,

1Genetics and Molecular Biology Unit, 2Department of Clinical Medicine and Nephrology, University Hospital, Parma, 3Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, 4Nephrology Department, S. Maria della Misericordia Hospital, Perugia, 5Rheumatology Unit, Arcispedale S. Maria Nuova, Reggio Emilia, 6Internal Medicine Department, Ospedali Riuniti, Ancona, 7Allergy and Clinical Immunology Department, University of Torino, Torino, 8Nephrology Unit, Spedali Civili, Brescia, 9Nephrology Unit, Policlinico Hospital, Milano, 10Pulmonology Unit, University of Milano Bicocca, Monza, 11Nephrology and Clinical Immunology Unit, San Carlo Borromeo Hospital, Milano, 12Nephrology Unit, Legnano Hospital, Legnano, 13Nephrology Unit, S. Anna Hospital, Como, 14Internal Medicine Department, Arcispedale S. Maria Nuova, Reggio Emilia and 15Respiratory Pathophysiology Unit, University Hospital, Parma, Italy.

Search for other works by this author on:

... Show more

Revision received:

01 December 2011

Published:

11 January 2012

• • Article contents
  • Figures & tables
  • Video
  • Audio
  • Supplementary Data
• Cite

Cite

Davide Martorana, Federica Maritati, Giovanni Malerba, Francesco Bonatti, Federico Alberici, Elena Oliva, Paola Sebastio, Lucio Manenti, Rachele Brugnano, Maria G. Catanoso, Paolo Fraticelli, Giuseppe Guida, Gina Gregorini, Stefano Possenti, Gabriella Moroni, Antonio Leoni, Laura Pavone, Alberto Pesci, Renato A. Sinico, Lucafrancesco Di Toma, Marco D'Amico, Bruno Tumiati, Raffaele D'Ippolito, Carlo Buzio, Tauro M. Neri, Augusto Vaglio, PTPN22 R620W polymorphism in the ANCA-associated vasculitides, Rheumatology, Volume 51, Issue 5, May 2012, Pages 805–812, https://doi.org/10.1093/rheumatology/ker446
Close

Navbar Search Filter Mobile Enter search term Search

Abstract

Objectives. PTPN22 is involved in T-cell activation and its R620W single-nucleotide polymorphism (SNP) has been shown to predispose to different autoimmune diseases. The aims of this study were to investigate the role of the PTPN22 R620W SNP in conferring susceptibility to the ANCA-associated vasculitides (AAVs), and to explore potential associations between the PTPN22 genotype and the disease manifestations.

Methods.PTPN22 R620W SNP was genotyped in a cohort of 344 AAV patients [143 with granulomatosis with polyangiitis (Wegener's) (GPA), 102 with microscopic polyangiitis (MPA) and 99 with Churg–Strauss syndrome (CSS)] and in 945 healthy controls.

Results. The frequency of the minor allele (620W) was significantly higher in GPA patients than in controls [P = 0.005, χ2 = 7.858, odds ratio (OR) = 1.91], while no statistically significant association was found with MPA or CSS. Among GPA patients, the 620W allele was particularly enriched in ANCA-positive patients as compared with controls (P = 0.00012, χ2 = 14.73, OR = 2.31); a particularly marked association was also found with ENT involvement (P = 0.0071, χ2 = 7.258, OR = 1.98), lung involvement (P = 0.0060, χ2 = 7.541, OR = 2.07) and skin manifestations of all kinds (P = 0.000047, χ2 = 16.567, OR = 3.73).

Conclusion. The PTPN22 620W allele confers susceptibility to the development of GPA (but not of MPA or CSS), and particularly of its ANCA-positive subset.

© The Author 2012. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com

Topic:

• alleles
• churg-strauss syndrome
• wegener granulomatosis
• lung
• polymorphism
• antineutrophil cytoplasmic autoantibody
• autoimmune diseases
• genotype
• single nucleotide polymorphism
• skin manifestations
• microscopic polyarteritis nodosa
• t-cell activation
• anca-associated vasculitis

You do not currently have access to this article.

I agree to the terms and conditions. You must accept the terms and conditions.

Submit a comment

Name

Affiliations

Comment title

Comment

You have entered an invalid code

Thank you for submitting a comment on this article. Your comment will be reviewed and published at the journal's discretion. Please check for further notifications by email.

Personal account

• Sign in with email/username & password
• Get email alerts
• Save searches
• Purchase content
• Activate your purchase/trial code
• Add your ORCID iD

Get help with access

Institutional access

Access to content on Oxford Academic is often provided through institutional subscriptions and purchases. If you are a member of an institution with an active account, you may be able to access content in one of the following ways:

IP based access

Typically, access is provided across an institutional network to a range of IP addresses. This authentication occurs automatically, and it is not possible to sign out of an IP authenticated account.

Sign in through your institution

Choose this option to get remote access when outside your institution. Shibboleth/Open Athens technology is used to provide single sign-on between your institution’s website and Oxford Academic.

1. Click Sign in through your institution.
2. Select your institution from the list provided, which will take you to your institution's website to sign in.
3. When on the institution site, please use the credentials provided by your institution. Do not use an Oxford Academic personal account.
4. Following successful sign in, you will be returned to Oxford Academic.

If your institution is not listed or you cannot sign in to your institution’s website, please contact your librarian or administrator.

Sign in with a library card

Enter your library card number to sign in. If you cannot sign in, please contact your librarian.

Society Members

Society member access to a journal is achieved in one of the following ways:

Sign in through society site

Many societies offer single sign-on between the society website and Oxford Academic. If you see ‘Sign in through society site’ in the sign in pane within a journal:

1. Click Sign in through society site.
2. When on the society site, please use the credentials provided by that society. Do not use an Oxford Academic personal account.
3. Following successful sign in, you will be returned to Oxford Academic.

If you do not have a society account or have forgotten your username or password, please contact your society.

Sign in using a personal account

Some societies use Oxford Academic personal accounts to provide access to their members. See below.

Personal account

A personal account can be used to get email alerts, save searches, purchase content, and activate subscriptions.

Some societies use Oxford Academic personal accounts to provide access to their members.

Viewing your signed in accounts

Click the account icon in the top right to:

• View your signed in personal account and access account management features.
• View the institutional accounts that are providing access.

Signed in but can't access content

Oxford Academic is home to a wide variety of products. The institutional subscription may not cover the content that you are trying to access. If you believe you should have access to that content, please contact your librarian.

Institutional account management

For librarians and administrators, your personal account also provides access to institutional account management. Here you will find options to view and activate subscriptions, manage institutional settings and access options, access usage statistics, and more.

Purchase

Short-term Access

To purchase short-term access, please sign in to your personal account above.

Don't already have a personal account? Register

PTPN22 R620W polymorphism in the ANCA-associated vasculitides - 24 Hours access

EUR €51.00

GBP £44.00

USD $55.00

Rental

This article is also available for rental through DeepDyve.

Advertisement intended for healthcare professionals

Citations

Views

Altmetric

Metrics

Total Views 1,390

1,066 Pageviews

324 PDF Downloads

Since 2/1/2017

Citations

46 Web of Science

×

Email alerts

Citing articles via

• Latest

• Most Read

• Most Cited

More from Oxford Academic

Advertisement intended for healthcare professionals