Association of protein kinase C alpha (PRKCA) gene with multiple sclerosis in a UK population

A. Barton, J. A. Woolmore, D. Ward, S. Eyre, A. Hinks, W. E R Ollier, R. C. Strange, A. A. Fryer, S. John, C. P. Hawkins, J. Worthington

    Research output: Contribution to journalArticlepeer-review


    Twin, family and adoption studies suggest that susceptibility to multiple sclerosis is substantially mediated by genetic factors. Linkage to human chromosome 17q, homologous to a locus linked to experimental animal models of multiple sclerosis, has been widely replicated and the region likely to harbour a multiple sclerosis susceptibility gene has recently been refined to a 2.5 Mb region of 17q22-24. The candidate multiple sclerosis susceptibility gene, protein kinase C alpha (PRKCA), maps within this interval and association with 35 single-nucleotide polymorphism (SNP) markers, spanning the gene with a median spacing of 7.8 kb, was tested using a case-control approach. Single-marker genotype and estimated haplotype frequencies were compared in UK unrelated cases with multiple sclerosis (n = 184) and healthy controls (n = 340) in order to investigate association with susceptibility to disease. A haplotype of two SNPs mapping to the proximal region of the gene showed evidence for association with susceptibility (Bonferroni-corrected P value = 1.1 × 10-5). These findings suggest that further investigation of the PRKCA gene is warranted, particularly in cohorts with evidence of linkage to 17q22. Most of the SNPs investigated in this study were intronic and screening to identify disease-associated functional mutations is now required. Our results suggest that the promoter and proximal gene region should be not only included but prioritized in any screening strategy.
    Original languageEnglish
    Pages (from-to)1717-1722
    Number of pages5
    Issue number8
    Publication statusPublished - Aug 2004


    • Multiple sclerosis
    • PRKCA gene
    • Susceptibility


    Dive into the research topics of 'Association of protein kinase C alpha (PRKCA) gene with multiple sclerosis in a UK population'. Together they form a unique fingerprint.

    Cite this