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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.

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.[1]

References

  1. The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Metzger, S., Bauer, P., Tomiuk, J., Laccone, F., Didonato, S., Gellera, C., Soliveri, P., Lange, H.W., Weirich-Schwaiger, H., Wenning, G.K., Melegh, B., Havasi, V., Balikó, L., Wieczorek, S., Arning, L., Zaremba, J., Sulek, A., Hoffman-Zacharska, D., Basak, A.N., Ersoy, N., Zidovska, J., Kebrdlova, V., Pandolfo, M., Ribaï, P., Kadasi, L., Kvasnicova, M., Weber, B.H., Kreuz, F., Dose, M., Stuhrmann, M., Riess, O. Neurogenetics (2006) [Pubmed]
 
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