Susceptibility to chronic inflammatory demyelinating polyradiculoneuropathy is associated to polymorphic GA repeat in the SH2D2A gene

J Neuroimmunol. 2008 Jul 15;197(2):124-7. doi: 10.1016/j.jneuroim.2008.04.003. Epub 2008 Jun 3.

Abstract

The SH2D2A gene encodes a T-cell-specific adapter protein involved in the negative control of T-cell activation. The genotype GA13-16 homozygote of the SH2D2A gene promoter has been associated with the susceptibility to develop multiple sclerosis. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated neuropathy sharing several pathogenetic mechanisms with multiple sclerosis. We genotyped the SH2D2A promoter region in 105 controls and 48 patients with CIDP. We found a significant association between CIDP and the genotype GA13-16 homozygote (OR 3.167; p 0.013). We hypothesize that this genotype is associated with the susceptibility to develop CIDP and may be implicated in the persistence of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Chi-Square Distribution
  • Child
  • Confidence Intervals
  • Dinucleotide Repeats / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Genetic / genetics*
  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / genetics*
  • Promoter Regions, Genetic / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • SH2D2A protein, human