title: Lack of evidence for a role of the myelin basic protein gene in multiple sclerosis susceptibility in Sardinian patients.
abstract: A link between myelin basic protein (MBP) polymorphism and multiple sclerosis (MS) has been reported in some populations but not in others. We analysed two polymorphisms in the 5' flanking region of the MBP exon 1 gene in MS patients from the founder population of Sardinia. Using the transmission disequilibrium test (TDT), MBP polymorphisms were analysed in 363 singleton MS families. No distortion in transmission of the tetranucleotide repeat (ATGG)12 and of the 1116-1540 nt alleles was found. Moreover, we discovered no epistatic effect of the MBP gene on the HLA/MHC DRB1,DQB1, DPB1 loci or on alleles defined by D6S1683 marker found to be associated with MS in Sardinians. We concluded that the MBP gene does not play a role in MS susceptibility in Sardinians.
authors.affiliation: Department of Neuroscience, University of Cagliari, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126 Cagliari, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Cocco
authors.forename: Cristina
authors.initials: C
authors.lastname: Mancosu
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Fadda
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Murru
authors.forename: Gianna
authors.initials: G
authors.lastname: Costa
authors.forename: Raffaele
authors.initials: R
authors.lastname: Murru
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D004676:Myelin Basic Protein / Q000172:deficiency* / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D004676:Myelin Basic Protein