Metzger, Silke and Bauer, Peter and Tomiuk, Juergen and Laccone, Franco and Didonato, Stefano and Gellera, Cinzia and Soliveri, Paola and Lange, Herwig W. and Weirich-Schwaiger, Helga and Wenning, Gregor K. and Melegh, Bela and Havasi, Victoria and Balikó, Lazlo and Wieczorek, Stefan and Arning, Larissa and Zaremba, Jacek and Sulek, Anna and Hoffman-Zacharska, Dorota and Basak, A. Nazli and Ersoy, Nagehan and Zidovska, Jana and Kebrdlova, Vera and Pandolfo, Massimo and Ribaï, Pascale and Kadasi, Ludovit and Kvasnicova, Marta and Weber, Bernhard H. F. and Kreuz, Friedmar and Dose, Matthias and Stuhrmann, Manfred and Riess, Olaf (2006) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 7 (1), pp. 27-30.
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Other URL: http://dx.doi.org/10.1007/s10048-005-0023-z
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.
|Institutions:||Medicine > Lehrstuhl für Humangenetik|
|Keywords:||Huntington's disease; Age-at-onset; Genetic modifiers; Ubiquitin carboxy-terminal hydrolase L1 (UCHL1); S18Y polymorphism|
|Subjects:||500 Science > 570 Life sciences|
600 Technology > 610 Medical sciences Medicine
|Refereed:||Yes, this version has been refereed|
|Created at the University of Regensburg:||Unknown|
|Deposited On:||18 Jan 2007|
|Last Modified:||20 Jul 2011 20:50|