IGHV4-39 deletion polymorphism does not associate with risk or outcome of multiple sclerosis.

Journal article

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: Watson, C; Ramagopalan, S; Morrison, K; Ebers, G; Breden, F

• Publication status: Published
• Journal: Journal of neuroimmunology
• Volume: 225
• Issue: 1-2
• Pages: 164-166
• Publication date: 2010-08-01
• DOI: 10.1016/j.jneuroim.2010.04.012
• EISSN: 1872-8421
• ISSN: 0165-5728
• Language: English
• Keywords: Male; Multiple Sclerosis; Polymorphism, Genetic; Sequence Deletion; Immunoglobulin Variable Region; Genetic Predisposition to Disease; Immunoglobulin Heavy Chains; Female; Genotype; Humans