Analysis of association of DNASE2 promoter variation with rheumatoid arthritis in European Caucasians

2 Association has been reported between three single nucleotide polymorphisms (SNPs; rs11085823, rs12609744 and rs249143) in tight linkage disequilibrium within the DNASE2 promoter and RA in German Caucasian samples, with differential association according to RF status. 3 With the aim of replicating the previous findings, 3 rs12609744, chosen because HapMap data were available for imputation, was genotyped using a TaqMan assay (Applied Biosystems, Foster City, California, USA) in New Zealand and UK Caucasian case-control samples, 4 5 and imputed genotype data retrieved from a genome-wide scan ( table 1 ). Given the findings from DNASE2-deficient mice 2 we tested for possible epistatic interaction with RA-associated SNPs within genes implicated in tumour necrosis factor (TNF)α-driven pathogenic pathways (IRF5, TNFAIP3, TRAF1) in the New Zealand and publically available Wellcome Trust Case Control Consortium 7 sample sets.