학술논문
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease
Document Type
Report
Author abstract
Author abstract
Author
Metzger, Silke; Bauer, Peter; Tomiuk, Juergen; Laccone, Franco; Didonato, Stefano; Gellera, Cinzia; Soliveri, Paola; Lange, Herwig W.; Weirich-Schwaiger, Helga; Wenning, Gregor K.; Melegh, Bela; Havasi, Victoria; Baliko, Lazlo; Wieczorek, Stefan; Arning, Larissa; Zaremba, Jacek; Sulek, Anna; Hoffman-Zacharska, Dorota; Basak, A. Nazli; Ersoy, Nagehan; Zidovska, Jana; Kebrdlova, Vera; Pandolfo, Massimo; Ribai, Pascale; Kadasi, Ludovit; Kvasnicova, Marta; Weber, Bernhard H. F.; Kreuz, Friedmar; Dose, Matthias; Stuhrmann, Manfred; Riess, Olaf
Source
neurogenetics. March, 2006, Vol. 7 Issue 1, p27, 4 p.
Subject
Language
English
ISSN
1364-6745
Abstract
An expanded polyglutamine stretch in the huntingtin protein has been identified as the pathogenetic cause of Huntington's disease (HD). Although the length of the expanded polyglutamine repeat is inversely correlated with the age-at-onset, additional genetic factors are thought to modify the variance in the disease onset. As linkage analysis suggested a modifier locus on chromosome 4p, we investigated the functional relevance of S18Y polymorphism of the ubiquitin carboxy-terminal hydrolase L1 in 946 Caucasian HD patients. In this group, the allelic variation on locus S18Y is responsible for 1.1% of the variance in the HD age-at-onset, and the rare Y allele is associated with younger-aged cases.