More CLEC16A gene variants associated with multiple sclerosis. Acta Neurol Scand 2011 Jun;123(6):400-6
Date
09/21/2010Pubmed ID
20849399DOI
10.1111/j.1600-0404.2010.01421.xScopus ID
2-s2.0-79954567814 (requires institutional sign-in at Scopus site) 23 CitationsAbstract
OBJECTIVES: Recently, associations of several single-nucleotide polymorphisms (SNPs) within the CLEC16A gene with multiple sclerosis (MS), type-I diabetes, and primary adrenal insufficiency were reported.
METHODS: We performed linkage disequilibrium (LD) fine mapping with 31 SNPs from this gene, searching for the region of highest association with MS in a German sample consisting of 603 patients and 825 controls.
RESULTS: Four SNPs located in intron 19 of the CLEC16A gene were found associated. We could replicate the finding for SNP rs725613 and were able to show for the first time the association of rs2041670, rs2080272 and rs998592 with MS.
CONCLUSION: All described base polymorphisms are mapping to one LD block of approximately 50 kb within intron 19 of the CLEC16A gene, suggesting a pivotal role of this region for susceptibility of MS and possibly also for other autoimmune diseases.
Author List
Nischwitz S, Cepok S, Kroner A, Wolf C, Knop M, Müller-Sarnowski F, Pfister H, Rieckmann P, Hemmer B, Ising M, Uhr M, Bettecken T, Holsboer F, Müller-Myhsok B, Weber FAuthor
Antje Kroner-Milsch MD, PhD Associate Professor in the Neurosurgery department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged
Female
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Humans
Lectins, C-Type
Linkage Disequilibrium
Male
Middle Aged
Monosaccharide Transport Proteins
Multiple Sclerosis
Polymorphism, Single Nucleotide
Young Adult
