CD1A and CD1E gene polymorphisms are associated with susceptibility to multiple sclerosis
C M Caporale1, F Notturno, M Pace
1Neurocenter of Southern Switzerland, Ospedale Civico, Lugano, Switzerland.
International Journal of Immunopathology and Pharmacology
|April 19, 2011
Summary
Genetic variations in CD1A and CD1E influence susceptibility to multiple sclerosis (MS). Specific CD1 gene variants are linked to increased or decreased MS risk, highlighting their role in this autoimmune disease.
Area of Science:
- Immunology
- Genetics
- Neuroscience
Background:
- Multiple sclerosis (MS) is an autoimmune T-cell-mediated disease targeting central nervous system myelin.
- Lipid components of the central nervous system, in addition to myelin proteins, are implicated as antigens in MS.
- CD1 molecules present microbial and self lipids/glycolipids to T cells, and CD1-restricted T cells targeting gangliosides and sulfatides are found in MS patients.
Purpose of the Study:
- To investigate the association between CD1A and CD1E gene polymorphisms and multiple sclerosis (MS).
- To determine if specific CD1 genotypes correlate with the presence of anti-ganglioside and anti-sulfatide antibodies in MS patients.
Main Methods:
- Genotyping of exon 2 of CD1A and CD1E genes in 205 MS patients and 223 healthy controls.
- Analysis of the association between identified genotypes and anti-ganglioside/anti-sulfatide antibody status.
Main Results:
- The CD1E 01-01 genotype showed a reduced risk of MS (OR 0.54, p=0.001).
- CD1A 02-02 (OR 1.99, p=0.012) and CD1E 02-02 (OR 2.45, p=0.000) genotypes were associated with increased MS risk.
- A strong association was found between the combined CD1A 02-02 and CD1E 02-02 genotypes and MS (OR 94.16, p=0.000), present in 90.7% of patients vs. 9.4% of controls.
Conclusions:
- CD1A and CD1E polymorphisms are significant contributors to the polygenic susceptibility to multiple sclerosis.
- These genetic variations may alter immunological functions, although the precise functional effects of these CD1 polymorphisms remain to be elucidated.
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