1. ¹Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA
2. ²Center for Human Genetics and Department of Medicine, Duke University Medical Center, Durham, NC, USA
3. ³Department of Neurology, University of California San Francisco, San Francisco, CA, USA
4. ⁴Miami Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA

Correspondence: Dr JL Haines, Center for Human Genetics Research, Vanderbilt University Medical Center, 519 Light Hall, Nashville, TN, 37232-0700, USA. E-mail: jonathan@chgr.mc.vanderbilt.edu

Received 21 November 2008; Revised 3 April 2009; Accepted 18 May 2009; Published online 23 July 2009.

Abstract

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 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 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.