title: Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients.
abstract: BACKGROUND
  Recent findings propose that Mycobacterium avium subsp. paratuberculosis (MAP) infection could act as risk factor in favoring multiple sclerosis (MS) progression. SLC11A1 is a gene associated with mycobacterial survival in the host and it may be involved in the induction and maintenance of autoimmune disease.
  
  
  METHODS
  In this preliminary study, 100 MS patients and 100 healthy controls (HCs) from Sardinia were enrolled. Eight single nucleotide polymorphisms (SNPs) in the SLC11A gene were searched by PCR RFLP-genotyping. IS900 specie specific PCR was undertaken to search for MAP presence. Indirect ELISA was performed to asses if MS patients displayed a stronger humoral response against MAP2694 protein compared to the HCs.
  
  
  RESULTS
  Only rs2276631 SNP was associated with MS. MAP DNA was detected in 23 out of 100 MS patients (23%) and in 7 out of 100 HCs (7%). A strong humoral response against MAP2694 protein was detected in 36% of MS patients and only in 3% of HCs. A correlation between ELISA sero-positivity and the rs2276631 SNP was also found.
  
  
  CONCLUSIONS
  Our preliminary results suggest that the Sardinian population might be prone to develop autoimmune disease due to polymorphisms in immunomodulating the SLC11A1 gene, which is important in the immune response against intracellular bacteria such as MAP.
authors.affiliation: Dipartimento di Scienze Biomediche, Sezione di Microbiologia Sperimentale e Clinica, Università di Sassari, Italy. davide.cossu@email.it
authors.forename: Davide
authors.initials: D
authors.lastname: Cossu
authors.forename: Speranza
authors.initials: S
authors.lastname: Masala
authors.forename: Eleonora
authors.initials: E
authors.lastname: Cocco
authors.forename: Daniela
authors.initials: D
authors.lastname: Paccagnini
authors.forename: Stefania
authors.initials: S
authors.lastname: Tranquilli
authors.forename: Jessica
authors.initials: J
authors.lastname: Frau
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
authors.forename: Leonardo Antonio
authors.initials: LA
authors.lastname: Sechi
mesh_terms: D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D016172:DNA Fingerprinting; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D016927:Mycobacterium avium subsp. paratuberculosis / Q000276:immunology*; D010283:Paratuberculosis / Q000453:epidemiology* / Q000235:genetics* / Q000276:immunology / Q000382:microbiology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1