Lack of association between ubiquitin carboxy-terminal hydrolase L1 gene polymorphism and PD.

Abstract

In 1998, an IL93Met mutation in the ubiquitin carboxy-terminal hydrolase L1 ( UCH-L1 ) gene was identified in a German family affected by PD.1 Recently, others2-4⇓⇓ found that the S18Y polymorphism in exon 3 of UCH-L1 is associated with a low risk of PD. To verify these interesting results, we decided to design a case-control study on the S18Y polymorphism of the UCH-L1 gene using sporadic PD cases. In the meantime, as we were analyzing our samples, a case-control study5 on 142 patients with PD and 142 age- and sex-matched control subjects did not confirm the protective effect found by Maraganore et al.2 In view of these conflicting findings, we reasoned that our contribution may have some weight in defining the role of the UCH-L1 gene in PD. Blood was collected from 169 patients with sporadic PD and 165 control subjects. Patients and control subjects were not matched for age and sex. Patients with PD were consecutively selected starting from January 1999 until September 2000 from among …