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Osteopontin polymorphisms and disease course in multiple sclerosis.

S Caillier1, L F Barcellos, S E Baranzini

  • 1Department of Neurology, University of California, San Francisco, CA 43143-0435, USA.

Genes and Immunity
|May 23, 2003
PubMed
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Genetic variations in osteopontin (OPN) were not linked to multiple sclerosis (MS) susceptibility. However, a specific OPN gene variant showed a trend towards influencing MS disease progression and severity.

Area of Science:

  • Immunogenetics
  • Neuroimmunology

Background:

  • Osteopontin (OPN), also known as early T-cell activating gene (Eta-1), plays a role in experimental autoimmune encephalomyelitis.
  • Multiple Sclerosis (MS) is a chronic neurological disease with complex genetic and environmental factors.

Purpose of the Study:

  • To investigate the association between single-nucleotide polymorphisms (SNPs) in the OPN gene and MS susceptibility.
  • To evaluate the correlation of OPN gene polymorphisms with clinical endpoints in MS patients.

Main Methods:

  • Genotyping of four OPN SNPs (327T/C, 795C/T, 1128A/G, 1284A/C) in 821 MS patients.
  • Statistical analysis to assess genetic association with MS susceptibility and clinical parameters.

Main Results:

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  • No significant genetic association was found between the studied OPN polymorphisms and MS susceptibility.
  • A non-significant trend suggested that the wild-type 1284A allele of OPN might influence disease course.
  • Patients with the 1284A allele showed a tendency towards less mild disease and increased risk of secondary-progressive MS.

    • Conclusions:

    • The investigated OPN gene polymorphisms are unlikely to be major determinants of MS susceptibility.
    • The 1284A allele of OPN warrants further investigation for its potential role in modulating MS disease progression.