Volume 55, Issue 2 pp. 270-273

Basic and Translational Science

The PTPN22 gene is associated with idiopathic inflammatory myopathy

Adam Maundrell MBBS,

Adam Maundrell MBBS

Rheumatology Department, Royal Adelaide Hospital, North Terrace, Adelaide, South Australia, 5000 Australia

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Sue Lester BSc(Hons),

Sue Lester BSc(Hons)

Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia

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Maureen Rischmueller MBBS, MD,

Maureen Rischmueller MBBS, MD

Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia

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Catherine Hill MBBS, MD,

Catherine Hill MBBS, MD

Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia

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Leslie G. Cleland MBBS, MD,

Leslie G. Cleland MBBS, MD

Rheumatology Department, Royal Adelaide Hospital, North Terrace, Adelaide, South Australia, 5000 Australia

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Peter Blumbergs MBBS, FRCPA,

Peter Blumbergs MBBS, FRCPA

Tissue Pathology, South Australia Pathology, Adelaide, South Australia, Australia

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Michael Wiese BPharm, PhD,

Michael Wiese BPharm, PhD

School of Pharmacy and Medical Sciences and Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia

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Vidya Limaye MBBS, PhD,

Vidya Limaye MBBS, PhD

Rheumatology Department, Royal Adelaide Hospital, North Terrace, Adelaide, South Australia, 5000 Australia

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Adam Maundrell MBBS,

Adam Maundrell MBBS

Rheumatology Department, Royal Adelaide Hospital, North Terrace, Adelaide, South Australia, 5000 Australia

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Sue Lester BSc(Hons),

Sue Lester BSc(Hons)

Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia

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Maureen Rischmueller MBBS, MD,

Maureen Rischmueller MBBS, MD

Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia

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Catherine Hill MBBS, MD,

Catherine Hill MBBS, MD

Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia

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Leslie G. Cleland MBBS, MD,

Leslie G. Cleland MBBS, MD

Rheumatology Department, Royal Adelaide Hospital, North Terrace, Adelaide, South Australia, 5000 Australia

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Peter Blumbergs MBBS, FRCPA,

Peter Blumbergs MBBS, FRCPA

Tissue Pathology, South Australia Pathology, Adelaide, South Australia, Australia

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Michael Wiese BPharm, PhD,

Michael Wiese BPharm, PhD

School of Pharmacy and Medical Sciences and Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia

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Vidya Limaye MBBS, PhD,

Vidya Limaye MBBS, PhD

Rheumatology Department, Royal Adelaide Hospital, North Terrace, Adelaide, South Australia, 5000 Australia

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First published: 16 June 2016

https://doi.org/10.1002/mus.25222

Citations: 2

Correspondence to: A. Maundrell; e-mail: [email protected]

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ABSTRACT

Introduction

The aim of this study was to determine whether a single-nucleotide polymorphism (SNP; 1858CT, R620W) in the protein tyrosine phosphatase N22 (PTPN22) gene confers susceptibility to idiopathic inflammatory myopathy (IIM) in South Australian patients with IIM. Methods: Genotyping was performed on stored DNA from 199 patients with histologically confirmed polymyositis (PM), dermatomyositis (DM), and inclusion body myositis (IBM), and then compared with 455 matched controls. Associations with the 8.1 ancestral haplotype (AH), and myositis-specific (MSA) and myositis-associated (MAA) autoantibodies were investigated. Results: The PTPN22 R620W minor allele frequency was increased in IIM patients (50 of 398, 12.6%) compared with controls (75 of 910, 8.2%) (odds ratio 1.6, 95% confidence interval 1.1–2.3, P = 0.016). In IIM patients, there was no association between the R620W minor allele and detection of any MSA/MAA (P = 0.70), nor any evidence of epistasis with the 8.1 AH (P = 0.69). Conclusions: The PTPN22 R620W minor allele is associated with susceptibility to IIM in SA patients, independent of the 8.1 AH. Muscle Nerve, 2016 Muscle Nerve 55: 270–273, 2017

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Volume55, Issue2

February 2017

Pages 270-273

The PTPN22 gene is associated with idiopathic inflammatory myopathy

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The PTPN22 gene is associated with idiopathic inflammatory myopathy

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Introduction

REFERENCES

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