Rheumatoid arthritis

Association of rare single-nucleotide variant MUC5B rs35705950 with interstitial lung disease in Japanese rheumatoid arthritis

Rheumatology (Oxford)Published Genetic association study

Authors' conclusion

MUC5B rs35705950 is associated with, and might be involved in the pathogenesis of ILD, especially UIP, in Japanese RA.

Study context

Population
Japanese RA patients
Comparison
Carriers of candidate single-nucleotide variant (SNV) alleles vs non-carriers, for interstitial lung disease (ILD) in RA
Outcome
Association of candidate SNVs, including MUC5B rs35705950, with ILD in RA
Methodological detailscandidate SNV genotyping, allele model, haplotype analyses
  • Candidate SNV genotyping
  • Allele model
  • Haplotype analyses

Main finding

As reported in the abstract

Allele model
Odds ratio (95% CI)P value
MUC5B rs35705950 (UIP)
10.66(2.05–55.37)
P = 0.0039, Pc = 0.0156
MUC5B rs35705950 (ILD)
7.33(1.52–35.44)
P = 0.0071, Pc = 0.0284

Further findings

Association of MUC2 rs7934606 with usual interstitial pneumonia (UIP) and ILD in RA

OR (95% CI)P value
MUC2 rs7934606 (UIP)29.55 (1.52–574.57)P = 0.0072, Pc = 0.0288
MUC2 rs7934606 (ILD)22.95 (1.27–416.13)P = 0.0037, Pc = 0.0148

MAD1L1 rs12699415 and PPFIBP2 rs6578890 with UIP, nonspecific interstitial pneumonia or ILD

No significant association

Original publication

Association of rare single-nucleotide variant MUC5B rs35705950 with interstitial lung disease in Japanese rheumatoid arthritis. Rheumatology (Oxford). Published 7 August 2024. doi:10.1093/rheumatology/keae422

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