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.

Lack of evidence for a role of the myelin basic protein gene in multiple sclerosis susceptibility in Sardinian patients

COCCO, ELEONORA;MANCOSU, CRISTINA;MURRU, RAFFAELE;MARROSU, MARIA GIOVANNA
2002

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.
Genetic susceptibility; MBP gene; Multiple sclerosis; Adolescent; Adult; Aged; Child; DNA Mutational Analysis; Female; Gene Frequency; Genetic Predisposition to Disease; Genetic Testing; Genotype; Haplotypes; Humans; Italy; Male; Middle Aged; Multiple Sclerosis; Mutation; Myelin Basic Protein; Polymorphism, Genetic; Trinucleotide Repeat Expansion; Neurology (clinical); Neurology
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/110112
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