Premium
The PTPN22 gene is associated with idiopathic inflammatory myopathy
Author(s) -
Maundrell Adam,
Lester Sue,
Rischmueller Maureen,
Hill Catherine,
Cleland Leslie G.,
Blumbergs Peter,
Wiese Michael,
Limaye Vidya
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25222
Subject(s) - ptpn22 , odds ratio , medicine , myositis , dermatomyositis , single nucleotide polymorphism , allele , myopathy , minor allele frequency , gastroenterology , genotype , immunology , biology , genetics , gene
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