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CXCL10 haplotypes and multiple sclerosis: association and correlation with clinical course
D Galimberti1, D Scalabrini, C Fenoglio
1Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. daniela.galimberti@unimi.it
European Journal of Neurology
|January 26, 2007
Summary
The CXCL10 gene
Area of Science:
- Neuroimmunology
- Genetics
- Molecular Biology
Background:
- Elevated CXCL10 (interferon-gamma-inducible protein-10) levels in cerebrospinal fluid are linked to active multiple sclerosis (MS) inflammatory attacks.
- CXCL10's role in MS pathogenesis is suggested by its increased presence during symptomatic episodes.
Purpose of the Study:
- To investigate the association between CXCL10 gene single nucleotide polymorphisms (SNPs) and multiple sclerosis (MS).
- To determine if specific CXCL10 haplotypes influence MS susceptibility or disease progression.
Main Methods:
- Genotyping of G --> C and T --> C single nucleotide polymorphisms (SNPs) in exon 4 of the CXCL10 gene in 226 MS patients and 235 controls.
- Haplotype analysis to test for association with MS and correlation with clinical variables, including progression index and disease course (relapsing-remitting and secondary progressive).
Main Results:
- No significant association was found between determined CXCL10 haplotypes and MS susceptibility.
- Carriers of the GGTT haplotype exhibited a significantly lower MS progression index (P = 0.016).
- GGTT haplotype carriers with an initial relapsing-remitting course had a longer time to the second episode (P = 0.021) and a longer duration before worsening to secondary progressive MS (P = 0.08).
Conclusions:
- The GGTT haplotype of the CXCL10 gene is not a risk factor for developing MS.
- The GGTT haplotype likely influences MS disease course, potentially slowing disease progression.
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