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.
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.
D'Alfonso
Sandra
S
Laboratorio di Genetica Umana, Dipartimento Scienze Mediche, Univ. Piemonte Orientale, Via Solaroli 17, 28100 Novara, Italy. dalfonso@med.unipmn.it
Mellai
Marta
M
Giordano
Mara
M
Pastore
Alessandro
A
Malferrari
Giulia
G
Naldi
Paola
P
Repice
Anna
A
Liguori
Maria
M
Cannoni
Stefania
S
Milanese
Clara
C
Caputo
Domenico
D
Savettieri
Giovanni
G
Momigliano-Richiardi
Patricia
P
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*
D018992:Myelin-Associated Glycoprotein