title: Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis.
abstract: The myelin-associated glycoprotein (MAG) gene is an appealing candidate in the 19q13 Multiple Sclerosis (MS) candidate region. Using denaturing high performance liquid chromatography (DHPLC), we identified 14 single nucleotide polymorphisms (SNPs) in MAG coding and regulatory regions, and we tested their possible association with MS in Italian patient and control DNA pools. Eight variations had a frequency <0.05, i.e. below the detection limit in the pools. Of these, Arg537Cys was further studied with individually genotyped individuals and was detected in 1/189 patients and 0/85 controls. The frequency of the six remaining SNPs were not significantly different in pools including a total of 1266 patient and 1612 control chromosomes. Considering the statistical power of the experimental design, these results exclude the MAG gene as an MS susceptibility factor with an odds ratio (OR) equal or higher than 1.3.
authors.affiliation: Laboratorio di Genetica Umana, Dipartimento Scienze Mediche, Univ. Piemonte Orientale, Via Solaroli 17, 28100 Novara, Italy. dalfonso@med.unipmn.it
authors.forename: Sandra
authors.initials: S
authors.lastname: D'Alfonso
authors.forename: Marta
authors.initials: M
authors.lastname: Mellai
authors.forename: Mara
authors.initials: M
authors.lastname: Giordano
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pastore
authors.forename: Giulia
authors.initials: G
authors.lastname: Malferrari
authors.forename: Paola
authors.initials: P
authors.lastname: Naldi
authors.forename: Anna
authors.initials: A
authors.lastname: Repice
authors.forename: Maria
authors.initials: M
authors.lastname: Liguori
authors.forename: Stefania
authors.initials: S
authors.lastname: Cannoni
authors.forename: Clara
authors.initials: C
authors.lastname: Milanese
authors.forename: Domenico
authors.initials: D
authors.lastname: Caputo
authors.forename: Giovanni
authors.initials: G
authors.lastname: Savettieri
authors.forename: Patricia
authors.initials: P
authors.lastname: Momigliano-Richiardi
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D000328:Adult; D002851:Chromatography, High Pressure Liquid; D002888:Chromosomes, Human, Pair 19; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology*; D018992:Myelin-Associated Glycoprotein / Q000032:analysis / Q000235:genetics* / Q000276:immunology*; D020641:Polymorphism, Single Nucleotide / Q000276:immunology*
chemical_list: D018992:Myelin-Associated Glycoprotein