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Published on: July 16, 2021
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype
C Bertolin1, G Querin1, E Da Re1
1Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
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.
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