Association between DPP6 polymorphism and the risk of progressive multiple sclerosis in Northern and Southern Europeans

Paola Brambilla, Federica Esposito, Eva Lindstrom, Melissa Sorosina, Giacomo Giacalone, Ferdinando Clarelli, Mariaemma Rodegher, Bruno Colombo, Lucia Moiola, Angelo Ghezzi, Ruggero Capra, Laura Collimedaglia, Gabriella Coniglio, Elisabeth G. Celius, Daniela Galimberti, Per Soelberg Sørensen, Vittorio Martinelli, Annette B. Oturai, Hanne F. Harbo, Jan HillertGiancarlo Comi, Filippo Martinelli-Boneschi

Research output: Contribution to journalArticlepeer-review


Background: In this study, we investigated the role of the dipeptidyl-peptidase-6 (DPP6) gene in the etiopathogenesis of progressive forms of multiple sclerosis (PrMS).This gene emerged as a candidate gene in a genome-wide association study (GWAS) performed in an Italian sample of PrMS and controls in which two SNPs located in the gene (rs6956703 and rs11767658) showed evidence of association (nominal p-value-4) (Martinelli-Boneschi et al.) [18]. Moreover, the gene is highly expressed in the central nervous system, and it has been found to be associated with sporadic cases of amyotrophic lateral sclerosis which shares some feature with PrMS. Methods: We genotyped 19 SNPs selected using a direct and tagging approach in 244 Italian PrMS and 225 controls, and we measured the expression levels of the gene in 13 PrMS cases and 25 controls. Results: Five out of 19 SNPs were found to be associated with the disease (adjusted p-3,OR=1.82, 95%CI=1.24-2.69). Conclusions: These results, inflated by the limited sample size determined by the rarity of this condition, suggest a possible role of this gene in the susceptibility to PrMS, at least in Southern Europeans. Moreover, DPP6 was over-expressed in PrMS patients compared to controls.

Original languageEnglish
Pages (from-to)155-160
Number of pages6
JournalNeuroscience Letters
Issue number2
Publication statusPublished - Nov 21 2012


  • Association
  • DPP6
  • Genetics
  • Multiple sclerosis
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Neuroscience(all)

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