Are SMAD2/4/7 genetic variants associated with rheumatoid arthritis susceptibility and severity?
Authors' conclusion
Our results suggested that rs12456284 and rs10502913 in SMAD4 may have a potential protective effect against RA.
Study context
- Population
- Caucasian population: patients with established RA and unrelated healthy controls
- Participants
- 647 vs 496
- Comparison
- RA patients vs unrelated healthy controls
- RAn = 647
- Healthy controls (HCs)n = 496reference
- Outcome
- Association of selected SNPs in SMAD2/4/7 with RA risk
Methodological detailsTaqMan genotyping, bioinformatic prediction (TraP-score, PredictSNP.2)
- TaqMan genotyping
- Bioinformatic prediction (TraP-score, PredictSNP.2)
Main finding
As reported in the abstract
SMAD4 genotype frequency, HCs vs RA (higher in healthy subjects)
- AG rs12456284, codominant model
- OR 0.62; P = 0.027
- AG rs12456284, overdominant model
- OR 0.59; P = 0.016
- GA rs10502913, codominant model
- OR 0.65; P = 0.050
- GA rs10502913, overdominant model
- OR 0.64; P = 0.033
Observational data: associations, not effects.
Further findings
Linkage disequilibrium between rs12456284 and rs10502913
- D'
- 0.95
- r2
- 0.90
- Very strong LD
Bioinformatic classification of rs12456284
- Deleterious change, prediction accuracy
- 94%
Disease course in RA
- SMAD2 rs1792666 and SMAD7 rs3736242 showed the highest association with disease course
Creatinine concentration
- SMAD4 rs10502913, SMAD7 rs3736242 and SMAD7 rs4464148 associated with creatinine concentration
Original publication
Are SMAD2/4/7 genetic variants associated with rheumatoid arthritis susceptibility and severity? Clin Exp Rheumatol. Published 31 May 2022. doi:10.
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