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

J Neuroimmunol. 2010 Aug 25;225(1-2):164-6. doi: 10.1016/j.jneuroim.2010.04.012. Epub 2010 May 15.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Immunoglobulin Heavy Chains / chemistry*
  • Immunoglobulin Heavy Chains / genetics
  • Immunoglobulin Variable Region / genetics*
  • Male
  • Multiple Sclerosis / genetics*
  • Polymorphism, Genetic / genetics*
  • Sequence Deletion / genetics*

Substances

  • Immunoglobulin Heavy Chains
  • Immunoglobulin Variable Region