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- Title
Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis.
- Authors
Lisa F. Barcellos; Ann B. Begovich; Rebecca L. Reynolds; Stacy J. Caillier; David Brassat; Silke Schmidt; Sarah E. Grams; Karen Walker; Lori L. Steiner; Bruce A. C. Cree; Althea Stillman; Robin R. Lincoln; Margaret A. Pericak-Vance; Jonathan L. Haines; Henry A. Erlich; Stephen L. Hauser; Jorge R. Oksenberg
- Abstract
A large body of research supports a multifactorial cause in multiple sclerosis (MS), with an underlying genetic susceptibility likely acting in concert with undefined environmental exposures. Here, we used a highly efficient multilocus genotyping assay to study single nucleotide polymorphisms representing variation in 34 genes from inflammatory pathways in a well-characterized MS familial data set. Evidence of transmission distortion was present for several polymorphisms. Results for the NOS2A locus (exon 10 C/T, D346D) on chromosome 17q11 remained significant after correction for multiple testing and were reproduced in a second independent African American MS data set. In addition, linkage to a NOS2A promoter region polymorphism, (CCTTT)n, was present in a third data set of multicase MS families. Our results provide strong evidence for linkage and association to a new candidate disease gene on chromosome 17q11 in MS and suggest that variation within NOS2A or a nearby locus contributes to disease susceptibility. Ann Neurol 2004
- Publication
Annals of Neurology, 2004, Vol 55, Issue 6, p793
- ISSN
0364-5134
- Publication type
Article