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BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
Annals of Rheumatic Diseases, 10/23/09

Rueda B et al. – Our results suggest that BANK1 gene confers susceptibility to SSc in general, and specifically to the dcSSc and anti-topoisomerase-I antibody subsets.

• Large multicenter case-control association study
• 2380 SSc patients and 3270 healthy controls from six independent case-control sets of Caucasian ancestry (American, Spanish, Dutch, German, Swedish and Italian)
• 3 putative functional BANK1 polymorphisms (rs17266594 T/C, rs10516487 G/A, rs3733197 G/A) selected as genetic markers and genotyped by Taqman 5'allelic discrimination assay

• Significant association of rs10516487 G and rs17266594 T alleles with SSc susceptibility observed whereas the rs3733197 genetic variant showed no statistically significant deviation
• Stratification for cutaneous SSc phenotype revealed BANK1 rs10516487 G, rs17266594 T, and rs3733197 G alleles were strongly associated with susceptibility to diffuse SSc (dcSSc)
• Stratification for specific SSc auto-antibodies showed association of BANK1 rs10516487, rs17266594, and rs3733197 polymorphisms was restricted to subgroup of patients carrying anti-topoisomerase I antibodies

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