Association between Synapsin III gene promoter polymorphisms and multiple sclerosis.
J Neurol
; 251(2): 165-70, 2004 Feb.
Article
en En
| MEDLINE
| ID: mdl-14991350
Although multiple sclerosis (MS) is considered to be an inflammatory demyelinating disease, increasing evidence indicates that it is also an axonal pathology; indeed, studies of experimental allergic encephalitis showed that several neuronal proteins such as synapsins take part in the pathogenesis of the axonal dysfunction. Synapsins are a family of abundant neuron-specific phosphoproteins with crucial roles in synaptogenesis and neuronal plasticity. Distinct genes encode the three different isolated proteins (I, II and III); of interest, the gene of synapsin III (SYN3) is located in the chromosome 22q12-q13, a locus close to one of the candidate susceptibility regions (22q13.1) for MS. In the present study we selected two polymorphisms (g.-631C > G and g.-196A > G) within the SYN3 5'-promoter region because of the protein's role and genetic location; we analysed the allele and genotype distributions of these polymorphisms in a selected MS population of southern Italy. An inverse association between MS and the g-631C > G polymorphism was found; indeed, the two polymorphisms were in almost complete linkage disequilibrium and the haplotype analysis showed that the C631/A196 haplotype seemed to confer a significant protection against MS.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fosfoproteínas
/
Polimorfismo Genético
/
Neuropéptidos
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Regiones Promotoras Genéticas
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Esclerosis Múltiple
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Adolescent
/
Adult
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Aged
/
Child
/
Female
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Humans
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Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
J Neurol
Año:
2004
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Alemania