Highlights
- •We studied EAAT2 genetic variations in patients presenting with Devic's disease.
- •Whole coding region and consensus sequences flanking each exon were sequenced.
- •No novel mutations or polymorphisms were found in EAAT2 gene.
- •No association was found between EAAT2 gene and Devic's disease.
Abstract
Devic's neuromyelitis optica (NMO) is a severe inflammatory and autoimmune disease
producing demyelinating lesions. Recent data suggest that a complex genetic component
could be involved. While impairment of glutamate homeostasis has emerged as a contributing
etiological factor in NMO, a genetic alteration of Excitatory Amino Acid Transporter
2 (EAAT2/SLC1A2), the major glutamate transporter in the Central Nervous System (CNS), could contribute
to glutamate excitotoxicity and then must be considered.
We evaluated whether mutations and/or single nucleotide polymorphisms (SNPs) in EAAT2 gene, are associated with susceptibility to NMO. We studied a cohort of NMO sporadic
cases including afro-caribbean patients (n=81; French cohort of Devic's neuromyelitis optica—NOMADMUS cohort) and compared to
control subjects (n=56). We sequenced the whole coding region of EAAT2 gene and splicing consensus sequences flanking each exon. The results obtained from
all NMO samples did not show any novel mutations and/or SNPs both in the coding region
and splicing sites of EAAT2 gene compared to controls subjects. We reported three synonymous SNPs (rs752949,
rs1042113 and rs7102949) but only rs7102949 was found in afro-caribbean. Genotype
frequencies did not differ between patients and controls for the three SNPs in caucasians
and afro-caribbeans (rs752949: p=0.71 and p=0.37, respectively; rs1042113: p=0.73 and p=0.35, respectively; rs7102949: p=0.08 in afro-caribbeans). Our data showed no evidence for a genetic association between
EAAT2 gene and Devic's neuromyelitis optica.
Keywords
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Article info
Publication history
Published online: July 22, 2013
Accepted:
June 21,
2013
Received in revised form:
May 20,
2013
Received:
November 6,
2012
Identification
Copyright
© 2013 Elsevier B.V. Published by Elsevier Inc. All rights reserved.