WDFY4 polymorphisms in Chinese patients with anti-MDA5 dermatomyositis is associated with rapid progressive interstitial lung disease
Authors' conclusion
We found that the WDFY4 variant was associated with an increased risk of RPILD, not with disease susceptibility in Chinese MDA5+DM.
Study context
- Population
- Chinese patients with MDA5+DM, MDA5-DM, anti-synthetases syndrome (ASyS) and healthy controls
- Participants
- 254 / 53 / 72 / 192
- Comparison
- WDFY4 rs7919656 variant (GA+AA genotype) vs non-variant in MDA5+DM; MDA5+DM, clinically amyopathic dermatomyositis (CADM) vs healthy controls
- MDA5+DMn = 254
- MDA5-DMn = 53
- ASySn = 72
- Healthy controlsn = 192reference
- Outcome
- Minor allele A frequency of WDFY4 rs7919656 and its association with clinical phenotype (RPILD)
Methodological detailscase-control, logistic regression
- Case-control
- Logistic regression
Main finding
As reported in the abstract
RPILD in MDA5+DM, WDFY4 variant (GA+AA genotype)
WDFY4 variant (GA+AA)Odds ratio (95% CI)P value
RPILD in MDA5+DM, WDFY4 variant (GA+AA genotype)
2.11(1.21–3.69)
P = 0.007Multivariate analysis; independent risk factor along with FVC % predicted, DLCO % predicted, serum ferritin and prednisolone exposure
4.98(1.59–17.19)
P = 0.008Observational data: associations, not effects.
Further findings
Minor allele A frequency of WDFY4 rs7919656
- Frequencies in MDA5+DM and CADM comparable to healthy controls
WDFY4 expression
- Variant associated with higher WDFY4 expression in PBMCs of MDA5+DM, especially with rapidly progressive interstitial lung disease (RPILD)
- WDFY4 overexpression in lung biopsy of MDA5+DM-RPILD bearing the variant genotype
Original publication
WDFY4 polymorphisms in Chinese patients with anti-MDA5 dermatomyositis is associated with rapid progressive interstitial lung disease. Rheumatology (Oxford). Published 13 January 2023. doi:10.
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