title: IGHV4-39 deletion polymorphism does not associate with risk or outcome of multiple sclerosis.
abstract: The restricted use of immunoglobulin heavy chain variable (IGHV) family 4 gene segments by clonally expanded B cells in brain lesions and cerebrospinal fluid (CSF) of multiple sclerosis (MS) patients is well documented. Specifically, the overrepresentation of gene IGHV4-39 has been highlighted in multiple studies. To investigate the role of IGHV4-39 in MS, we screened 193 MS cases, representing the extremes of clinical outcome (benign and malignant), and 187 controls for a previously reported germline deletion polymorphism containing IGHV4-39. We did not reveal a genetic association linking this polymorphism to MS risk or progression.
authors.affiliation: Department of Biological Sciences, Simon Fraser University, Burnaby, BC, Canada.
authors.forename: Corey T
authors.initials: CT
authors.lastname: Watson
authors.forename: Sreeram V
authors.initials: SV
authors.lastname: Ramagopalan
authors.forename: Katie M
authors.initials: KM
authors.lastname: Morrison
authors.forename: George C
authors.initials: GC
authors.lastname: Ebers
authors.forename: Felix
authors.initials: F
authors.lastname: Breden
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000737:chemistry* / Q000235:genetics; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region