| Literature DB >> 15174013 |
Lisa F Barcellos1, 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.Entities:
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Year: 2004 PMID： 15174013 DOI： 10.1002/ana.20092
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422