No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype
- Bertolin, Cinzia
- Querin, Giorgia
- Da Re, E.
- Sagnelli, A.
- Bello, Luca
- Cao, Michelangelo
- Muscas, M.
- Pennuto, M.
- Ermani, Mario
- Pegoraro, Elena
- Mariotti, C.
- Gellera, C.
- Hanna, M. G.
- Pareyson, D.
- Fratta, P.
- Soraru', Gianni
- Pennuto, Maria
Publication date
January 2016
DOI Publisher
Wiley ISSN
1351-5101 Citation count (estimate)
3Abstract
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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