title: PADI4 gene in multiple sclerosis: a family-based association study.
abstract: In multiple sclerosis (MS) MBP is heavily citrullinated by peptidylarginine deiminase (PAD). This post-translational modification may be crucial for its pathogenesis. PADI4 is the isoform expressed in inflammatory infiltrates. The aim of this study was to analyse the role of PADI4 gene in conferring susceptibility to MS, by means of a family-based association study, testing three SNPs by RFLP. No association was found either with single SNPs or haplotypes. Similarly no significant association was detected partitioning the patients according to DRB1*15 positivity or disease severity. These results do not support a major role of the PADI4 gene, but further studies may contribute to clarify the genetic factors that regulate deimination.
authors.affiliation: Clinical Immunology Unit, Department of Internal Medicine, University of Pisa, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Tommasi
authors.forename: E
authors.initials: E
authors.lastname: Petit-Teixeira
authors.forename: I
authors.initials: I
authors.lastname: Cournu-Rebeix
authors.forename: L
authors.initials: L
authors.lastname: Caponi
authors.forename: C
authors.initials: C
authors.lastname: Pierlot
authors.forename: B
authors.initials: B
authors.lastname: Fontaine
authors.forename: F
authors.initials: F
authors.lastname: Cornelis
authors.forename: P
authors.initials: P
authors.lastname: Migliorini
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000032:analysis / Q000378:metabolism; D002490:Central Nervous System / Q000276:immunology* / Q000378:metabolism / Q000503:physiopathology; D002874:Chromosome Mapping; D002956:Citrulline / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005602:France; D005819:Genetic Markers / Q000235:genetics / Q000276:immunology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes / Q000235:genetics / Q000276:immunology; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D008297:Male; D009103:Multiple Sclerosis / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D004676:Myelin Basic Protein / Q000276:immunology / Q000378:metabolism*; D009186:Myelin Sheath / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics / Q000276:immunology; D011499:Protein Processing, Post-Translational / Q000235:genetics / Q000276:immunology; D000080002:Protein-Arginine Deiminase Type 4; D000076342:Protein-Arginine Deiminases; D044465:White People / Q000235:genetics
chemical_list: D015415:Biomarkers; D005819:Genetic Markers; D004676:Myelin Basic Protein; D002956:Citrulline; D006867:Hydrolases; C000629235:PADI4 protein, human; D000080002:Protein-Arginine Deiminase Type 4; D000076342:Protein-Arginine Deiminases