UCHL1 is a Parkinson's disease susceptibility gene
Φόρτωση...
Ημερομηνία
Συγγραφείς
Maraganore, D. M.
Lesnick, T. G.
Elbaz, A.
Chartier-Harlin, M. C.
Gasser, T.
Kruger, R.
Hattori, N.
Mellick, G. D.
Quattrone, A.
Satoh, J.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Ann Neurol
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
The reported inverse association between the S18Y variant of the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene and Parkinson's disease (PD) has strong biological plausibility. If confirmed, genetic association of this variant with PD may support molecular targeting of the UCHL1 gene and its product as a therapeutic strategy for PD. In this light, we performed a collaborative pooled analysis of individual-level data from all 11 published studies of the UCHL1 S18Y gene variant and PD. There were 1,970 cases and 2,224 unrelated controls. We found a statistically significant inverse association of S18Y with PD. Carriers of the variant allele (Y/Y plus Y/S vs S/S) had an odds ratio (OR) of 0.84 (95% confidence interval [CI], 0.73-0.95) and homozygotes for the variant allele (Y/Y vs S/S plus Y/S) had an OR of 0.71 (95% CI, 0.57-0.88). There was a linear trend in the log OR consistent with a gene dose effect (p = 0.01). The inverse association was most apparent for young cases compared with young controls. There was no evidence for publication bias and the associations remained significant after excluding the first published, hypothesis-generating study. These findings confirm that UCHL1 is a susceptibility gene for PD and a potential target for disease-modifying therapies.
Περιγραφή
Λέξεις-κλειδιά
Adult, Aged, Aged, 80 and over, Antigens, CD45/genetics, Confidence Intervals, Female, Genetic Predisposition to Disease/*genetics, Genetic Variation/genetics, Genotype, Humans, Logistic Models, Male, Middle Aged, Odds Ratio, Parkinson Disease/enzymology/*genetics, Ubiquitin Thiolesterase/*genetics
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/15048890
http://onlinelibrary.wiley.com/store/10.1002/ana.20017/asset/20017_ftp.pdf?v=1&t=h0jenpx8&s=8ec12a0cac36f8782a3a2f9aabbc3a02fc45f2b0
http://onlinelibrary.wiley.com/store/10.1002/ana.20017/asset/20017_ftp.pdf?v=1&t=h0jenpx8&s=8ec12a0cac36f8782a3a2f9aabbc3a02fc45f2b0
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής