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Multiple Sclerosis
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case-report

Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients

D Otaegui

Unidad Experimental, Hospital Donosita, San Sebastian, Spain; Departamento de Neurología. Hospital Donosita. San Sebastian, Spain; Fundacion Ilundain, San Sebastian, Spain david.otaegibichot{at}osakidetza.net

O Zuriarrain

Unidad Experimental, Hospital Donosita, San Sebastian, Spain; Departamento de Neurología. Hospital Donosita. San Sebastian, Spain; Fundacion Ilundain, San Sebastian, Spain

T Castillo-Triviño

Departamento de Neurología. Hospital Donosita. San Sebastian, Spain

AM Aransay

Functional Genomics Department, CIC-BIOGUNE, Derio, Spain

J Ruíz-Martinez

Departamento de Neurología. Hospital Donosita. San Sebastian, Spain

J Olaskoaga

Departamento de Neurología. Hospital Donosita. San Sebastian, Spain

JF Marti-Masso

Departamento de Neurología. Hospital Donosita. San Sebastian, Spain

A Lopez de Munain

Departamento de Neurología. Hospital Donosita. San Sebastian, Spain

Background

Synapsins are a family of neuron-specific phosphoproteins, one of whose subunits is encoded by the SYN3 gene. This gene is located close to one of the multiple sclerosis susceptibility regions (in 22q13.1). Two single-nucleotide polymorphisms (SNPs) (rs133945 and rs133946) in the promoter region of this gene have been proposed as factors protecting against MS. This relationship is not clear because another report failed to found such association.

Objectives

In an attempt to clarify this association, the frequency of these SNPs was analyzed in a population of 221 Spanish MS patients with a cluster of 72 Basque patients and in 373 controls with a cluster of 138 controls of a Basque origin.

Methods

The SNis analysis was performed by 9 PCR.

Results

According to our findings, these SNPs are differently distributed in the two populations. This significant bias should therefore be taken into account in association studies. Our data suggest that the C/C genotype in rs133946 and the G/G genotype in rs133945 could be protecting factors against MS in the Basque population.

Key Words: Basque • multiple sclerosis • rs133945 • rs133946 • syn III

This version was published on January 1, 2009

Multiple Sclerosis, Vol. 15, No. 1, 124-128 (2009)
DOI: 10.1177/1352458508096682
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