Systemic sclerosis & Raynaud's
FAM13A polymorphism is associated with a usual interstitial pneumonia pattern in patients with systemic sclerosis-associated interstitial lung disease
Authors' conclusion
We demonstrated a novel association between FAM13A and SSc-UIP. Contrary to IPF and RA-ILD, the MUC5B promoter polymorphism was not associated with a definite UIP pattern in SSc-ILD.
Study context
- Population
- SSc-ILD patients from four US Scleroderma Programs; 80% female, 75% White
- Participants
- 489 patients
- Exposure
- FAM13A rs2609255 minor allele homozygotes (two copies) vs others; MUC5B rs35705950 carriage, by HRCT pattern (definite UIP vs other patterns)
- Definite UIPn = 23
- Outcome
- Association of MUC5B rs35705950 and 12 additional idiopathic pulmonary fibrosis (IPF) susceptibility loci with definite UIP pattern on HRCT
Methodological detailsmulticentre (four US Scleroderma Programs), HRCT read by a thoracic radiologist blinded to participants' characteristics
- Multicentre (four US Scleroderma Programs)
- HRCT read by a thoracic radiologist blinded to participants' characteristics
Main finding
As reported in the abstract
Definite UIP pattern by IPF susceptibility loci
Definite UIP
4.7%
23
Odds ratio (95% CI)
FAM13A rs2609255 two minor alleles vs Other patternsodds of definite UIPvs the other patterns
3.40(1.19–9.70)
FAM13A rs2609255 two minor alleles vs Alternative diagnosisodds of definite UIPvs alternative diagnosis
3.65(1.25–10.65)
Observational data: associations, not effects.
Original publication
FAM13A polymorphism is associated with a usual interstitial pneumonia pattern in patients with systemic sclerosis-associated interstitial lung disease. Rheumatology (Oxford). Published 17 October 2024. doi:10.
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