Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.

Journal Article (Journal Article)

Multiple sclerosis (MS) is a debilitating neuroimmunological and neurodegenerative disease affecting >4,00,000 individuals in the United States. Population and family-based studies have suggested that there is a strong genetic component. Numerous genomic linkage screens have identified regions of interest for MS loci. Our own second-generation genome-wide linkage study identified a handful of non-major histocompatibility complex regions with suggestive linkage. Several of these regions were further examined using single-nucleotide polymorphisms (SNPs) with average spacing between SNPs of approximately 1.0 Mb in a dataset of 173 multiplex families. The results of that study provided further evidence for the involvement of the chromosome 1q43 region. This region is of particular interest given linkage evidence in studies of other autoimmune and inflammatory diseases including rheumatoid arthritis and systemic lupus erythematosus. In this follow-up study, we saturated the region with approximately 700 SNPs (average spacing of 10 kb per SNP) in search of disease-associated variation within this region. We found preliminary evidence to suggest that common variation within the RGS7 locus may be involved in disease susceptibility.

Full Text

Duke Authors

Cited Authors

  • McCauley, JL; Zuvich, RL; Bradford, Y; Kenealy, SJ; Schnetz-Boutaud, N; Gregory, SG; Hauser, SL; Oksenberg, JR; Mortlock, DP; Pericak-Vance, MA; Haines, JL

Published Date

  • October 2009

Published In

Volume / Issue

  • 10 / 7

Start / End Page

  • 624 - 630

PubMed ID

  • 19626040

Pubmed Central ID

  • PMC2765552

Electronic International Standard Serial Number (EISSN)

  • 1476-5470

Digital Object Identifier (DOI)

  • 10.1038/gene.2009.53


  • eng

Conference Location

  • England