Abstract | OBJECTIVE: The complication of interstitial lung disease (ILD) in polymyositis/dermatomyositis (PM/DM) is associated with anti- aminoacyl-transfer RNA synthetase (anti-aaRS) antibody or anti- melanoma differentiation-associated gene 5 (anti-MDA-5) antibody positivity. Anti-MDA-5 antibody is associated with clinically amyopathic DM and fatal outcome due to rapidly progressive ILD in Asian populations. The association between genetic factors and anti-MDA-5 antibody-positive DM is unclear. This study was undertaken to investigate the HLA-DRB1 genotype in patients with anti-MDA-5 antibody-positive DM. METHODS: We examined genetic differences among 17 patients with anti-MDA-5 antibody-positive DM, 33 patients with anti-aaRS antibody-positive PM/DM, 33 patients with PM/DM without anti-aaRS antibody or ILD, and 265 healthy controls. RESULTS: The frequencies of HLA-DRB1*0101 and DRB1*0405 were 29% and 71%, respectively, in patients with anti-MDA-5 antibody-positive DM, which were higher than the frequencies in healthy controls (10% and 25%, respectively). Among the 17 patients with anti-MDA-5 antibody-positive DM, 16 (94%) harbored either the DRB1*0101 or DRB1*0405 allele. The combined frequency of the DRB1*0101 allele and the DRB1*0405 allele was significantly higher in patients with anti-MDA-5 antibody-positive DM than in patients with PM/DM without anti-aaRS antibody or ILD, with an odds ratio (OR) of 42.7 (95% confidence interval [95% CI] 4.9-370.2) (P = 1.1 × 10(-5)), or in patients with anti-aaRS antibody-positive PM/DM (OR 13.3 [95% CI 1.6-112.6], P = 4.5 × 10(-3)). CONCLUSION: Our findings indicate that HLA-DRB1*0101/*0405 is associated with susceptibility to anti-MDA-5 antibody-positive DM in the Japanese population.
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Authors | Takahisa Gono, Yasushi Kawaguchi, Masataka Kuwana, Tomoko Sugiura, Takefumi Furuya, Kae Takagi, Hisae Ichida, Yasuhiro Katsumata, Masanori Hanaoka, Yuko Ota, Hisashi Yamanaka |
Journal | Arthritis and rheumatism
(Arthritis Rheum)
Vol. 64
Issue 11
Pg. 3736-40
(Nov 2012)
ISSN: 1529-0131 [Electronic] United States |
PMID | 22886382
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2012 by the American College of Rheumatology. |
Chemical References |
- Autoantibodies
- HLA-DRB1 Chains
- HLA-DRB1*01:01 antigen
- IFIH1 protein, human
- DEAD-box RNA Helicases
- Interferon-Induced Helicase, IFIH1
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Topics |
- Adolescent
- Adult
- Aged
- Asian People
(genetics, statistics & numerical data)
- Autoantibodies
(immunology)
- DEAD-box RNA Helicases
(genetics, immunology)
- Dermatomyositis
(ethnology, genetics, immunology)
- Female
- Genetic Predisposition to Disease
(ethnology, genetics)
- Genotype
- HLA-DRB1 Chains
(genetics)
- Humans
- Interferon-Induced Helicase, IFIH1
- Male
- Middle Aged
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