No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

Eur J Neurol. 2016 Jun;23(6):1134-6. doi: 10.1111/ene.13001.

Abstract

Background and purpose: Disease severity varies considerably among patients with Spinal and Bulbar Muscular Atrophy (SBMA). Our aim was to investigate the role of androgen receptor (AR) polymorphic repeats in SBMA phenotype.

Methods: We analyzed the length of AR polyQ and polyG tracts in 159 SBMA patients.

Results: No relationship between polyG size or polyG/polyQ haplotypes and clinical phenotype was found. An independent negative correlation between polyQ-length and onset of weakness was confirmed (P < 0.001).

Conclusions: The negative results of our study prompt to continue the search for potential disease modifiers in SBMA outside the AR gene.

Keywords: genotype; phenotype; polyG; polyQ; spinal and bulbar muscular atrophy.

MeSH terms

  • Alleles
  • Haplotypes
  • Humans
  • Muscular Atrophy, Spinal / genetics*
  • Peptides / genetics
  • Phenotype
  • Poly G / genetics
  • Polymorphism, Single Nucleotide*
  • Receptors, Androgen / genetics*

Substances

  • AR protein, human
  • Peptides
  • Receptors, Androgen
  • Poly G
  • polyglutamine