title: Analyses of a MS-associated haplotype encompassing the CCL3 gene.
abstract: Our previous studies showed the association of multiple sclerosis with the same marker haplotype encompassing the CCL3 gene in two independent sets of families. Here we present that sequencing of this haplotype and its flanking regions detected no new mutation, but 16 single nucleotide polymorphisms (SNP) and 1 insertion/deletion variant in both affected and unaffected individuals. Transmission distortion analyses of the newly identified variants in the second set of families revealed no individual marker association. In the absence of a single disease relevant variant within the MS associated haplotype and the surrounding linkage disequilibrium block, the highlighted haplotype may itself indicate a functionally relevant allelic combination or interaction.
authors.affiliation: Department of Neurology, Saint Luke's Roosevelt Hospital Center, Columbia University, 432W 58th Street, Room 226, New York, NY 10019, United States.
authors.forename: Tamara
authors.initials: T
authors.lastname: Vyshkina
authors.forename: Bernadette
authors.initials: B
authors.lastname: Kalman
mesh_terms: D054405:Chemokine CCL3; D054407:Chemokine CCL4; D019742:Chemokines, CC / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D019402:Macrophage Inflammatory Proteins / Q000235:genetics*; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D054405:Chemokine CCL3; D054407:Chemokine CCL4; D019742:Chemokines, CC; D019402:Macrophage Inflammatory Proteins