The PTPN22 gene is associated with idiopathic inflammatory myopathy

Adam Maundrell; Sue Lester; Maureen Rischmueller; Catherine Hill; Leslie G Cleland; Peter Blumbergs; Michael Wiese; Vidya Limaye

doi:10.1002/mus.25222

The PTPN22 gene is associated with idiopathic inflammatory myopathy

Muscle Nerve. 2017 Feb;55(2):270-273. doi: 10.1002/mus.25222. Epub 2016 Nov 10.

Authors

Adam Maundrell¹, Sue Lester², Maureen Rischmueller², Catherine Hill², Leslie G Cleland¹, Peter Blumbergs³, Michael Wiese⁴, Vidya Limaye¹

Affiliations

¹ Rheumatology Department, Royal Adelaide Hospital, North Terrace, Adelaide, South Australia, 5000, Australia.
² Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia.
³ Tissue Pathology, South Australia Pathology, Adelaide, South Australia, Australia.
⁴ School of Pharmacy and Medical Sciences and Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia.

PMID: 27312665
DOI: 10.1002/mus.25222

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.

Keywords: PTPN22; dermatomyositis; inclusion body myositis; myositis; necrotizing myopathy; polymyositis.

MeSH terms

Adult
Australia
DNA Mutational Analysis
Female
Genetic Predisposition to Disease / genetics*
Humans
Male
Middle Aged
Myositis / genetics*
Polymorphism, Single Nucleotide / genetics*
Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*

Substances

PTPN22 protein, human
Protein Tyrosine Phosphatase, Non-Receptor Type 22