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See Latest ArticlesBANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4
Arthritis & Rheumatism, 11/09/09
Dieudé P I et al. – Results of this study establish BANK1 as a new SSc genetic susceptibility factor and show that BANK1, IRF5, and STAT4 act with additive effects.
Methods- BANK1 single-nucleotide polymorphisms were genotyped in total population of 2,432 individuals
- French cohort consisted of 874 SSc patients and 955 controls (previously genotyped for both IRF5 rs2004640 and STAT4 rs7574865)
- German cohort consisted of 421 SSc patients and 182 controls
- BANK1 variants found to be associated with diffuse cutaneous SSc (dcSSc) in both cohorts, providing an odds ratio (OR) of 0.77 for rs10516487 T rare allele in combined populations of dcSSc patients compared with combined populations of controls (95% confidence interval [95% CI] 0.64-0.93) and an OR of 0.73 (95% CI 0.61-0.87) for the rs3733197 A rare allele
- BANK1 haplotype analysis found A-T haplotype to be protective in dcSSc patients (OR 0.70 [95% CI 0.57-0.86] and the G-C haplotype to be a risk factor (OR 1.25 [95% CI 1.06-1.47])
- Significant differences also observed when limited cutaneous subset of SSc compared with dcSSc subset, both for rare alleles and for haplotypes
- BANK1, IRF5, and STAT4 risk alleles displayed multiplicatively increased risk of dcSSc of 1.43-fold
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