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Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis.
Ann Neurol 2004; 55(6):793-800AN

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.

Authors+Show Affiliations

Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143-0435, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

15174013

Citation

Barcellos, Lisa F., et al. "Linkage and Association With the NOS2A Locus On Chromosome 17q11 in Multiple Sclerosis." Annals of Neurology, vol. 55, no. 6, 2004, pp. 793-800.
Barcellos LF, Begovich AB, Reynolds RL, et al. Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis. Ann Neurol. 2004;55(6):793-800.
Barcellos, L. F., Begovich, A. B., Reynolds, R. L., Caillier, S. J., Brassat, D., Schmidt, S., ... Oksenberg, J. R. (2004). Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis. Annals of Neurology, 55(6), pp. 793-800.
Barcellos LF, et al. Linkage and Association With the NOS2A Locus On Chromosome 17q11 in Multiple Sclerosis. Ann Neurol. 2004;55(6):793-800. PubMed PMID: 15174013.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis. AU - Barcellos,Lisa F, AU - Begovich,Ann B, AU - Reynolds,Rebecca L, AU - Caillier,Stacy J, AU - Brassat,David, AU - Schmidt,Silke, AU - Grams,Sarah E, AU - Walker,Karen, AU - Steiner,Lori L, AU - Cree,Bruce A C, AU - Stillman,Althea, AU - Lincoln,Robin R, AU - Pericak-Vance,Margaret A, AU - Haines,Jonathan L, AU - Erlich,Henry A, AU - Hauser,Stephen L, AU - Oksenberg,Jorge R, PY - 2004/6/3/pubmed PY - 2004/7/13/medline PY - 2004/6/3/entrez SP - 793 EP - 800 JF - Annals of neurology JO - Ann. Neurol. VL - 55 IS - 6 N2 - 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. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/15174013/Linkage_and_association_with_the_NOS2A_locus_on_chromosome_17q11_in_multiple_sclerosis_ L2 - https://doi.org/10.1002/ana.20092 DB - PRIME DP - Unbound Medicine ER -