Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis

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 repres...

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Published inAnnals of neurology Vol. 55; no. 6; pp. 793 - 800
Main Authors Barcellos, Lisa F., Begovich, Ann B., Reynolds, Rebecca L., Caillier, Stacy J., Brassat, David, Schmidt, Silke, Grams, Sarah E., Walker, Karen, Steiner, Lori L., Cree, Bruce A. C., Stillman, Althea, Lincoln, Robin R., Pericak-Vance, Margaret A., Haines, Jonathan L., Erlich, Henry A., Hauser, Stephen L., Oksenberg, Jorge R.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.06.2004
Willey-Liss
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Summary: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
Bibliography:istex:F17AB8E3CB4572BC7F908C406B4E991A0D0C30AF
ark:/67375/WNG-HZ3D20RQ-P
NIH (National Institute of Neurological Disorders and Stroke) - No. NS 46297
NMSS (National Multiple Sclerosis Society) - No. RG3060
Nancy Davis Foundation
ArticleID:ANA20092
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.20092