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

Genes & Immunity volume 10, pages 624–630 (2009)Cite this article

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.

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Acknowledgements

This work was funded through NIH grants NS051695 and NS32830 and a post-doctoral fellowship (FG 1718-A-1) to JLM from the National Multiple Sclerosis Society (NMSS). This project was performed through the use of the Vanderbilt Center for Human Genetics Research Core (CHGR) facilities (DNA Resources Core and Bioinformatics Core), as well as the Duke Center for Human Genetics Molecular Genetics Core. We also recognize the International Multiple Sclerosis Genetics Consortium (IMSGC) for the use of data generated by the efforts and support of this broader collaboration. Most notably, we thank the patients and families that contributed to this study.

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Authors and Affiliations

  1. Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA

    J L McCauley, R L Zuvich, Y Bradford, S J Kenealy, N Schnetz-Boutaud, D P Mortlock & J L Haines

  2. Center for Human Genetics and Department of Medicine, Duke University Medical Center, Durham, NC, USA

    S G Gregory

  3. Department of Neurology, University of California San Francisco, San Francisco, CA, USA

    S L Hauser & J R Oksenberg

  4. Miami Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA

    M A Pericak-Vance

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Correspondence to J L Haines.

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McCauley, J., Zuvich, R., Bradford, Y. et al. Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. Genes Immun 10, 624–630 (2009). https://doi.org/10.1038/gene.2009.53

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