MS susceptibility is not affected by single nucleotide polymorphisms in the MMP9 gene

•Large German case–control analysis with increased SNP coverage by imputation•No association of MMP9 region +/− 2 mega base pairs with MS•Nominal significance of rs3918242, controversial data in previous studies•Strongest nominal association of rs6073751 within WFDC2 gene with MS•Meta-analysis of our own and published data

Matrix metalloproteinase 9 (MMP9) plays an important role in the pathogenesis of multiple sclerosis (MS). However, the impact of genetic variants affecting MMP9 on MS susceptibility is still in debate.We could not detect an association of MMP9 SNPs with MS on a genome-wide significance level by SNP genotyping, followed by imputation of SNPs within a region stretching 2 Mbp up- and down-stream of MMP9. Rs6073751, located within WFDC2, was found associated with MS most strongly. Rs3918242, associated with MS according to previous reports, showed nominal significance only. Meta-analysis of our own and published data did not confirm this effect.