Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
Φόρτωση...
Ημερομηνία
Συγγραφείς
Elbaz, A.
Ross, O. A.
Ioannidis, J. P.
Soto-Ortolaza, A. I.
Moisan, F.
Aasly, J. O.
Annesi, G.
Bozi, M.
Brighina, L.
Chartier-Harlin, M. C.
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
OBJECTIVE: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual data from case-control studies participating in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium. METHODS: Participants of Caucasian ancestry were genotyped for a total of 4 SNCA (rs2583988, rs181489, rs356219, rs11931074) and 2 MAPT (rs1052553, rs242557) single nucleotide polymorphism (SNPs). Individual and joint effects of SNCA and MAPT SNPs were investigated using fixed- and random-effects logistic regression models. Interactions were studied on both a multiplicative and an additive scale, and using a case-control and case-only approach. RESULTS: Fifteen GEO-PD sites contributed a total of 5,302 cases and 4,161 controls. All 4 SNCA SNPs and the MAPT H1-haplotype-defining SNP (rs1052553) displayed a highly significant marginal association with PD at the significance level adjusted for multiple comparisons. For SNCA, the strongest associations were observed for SNPs located at the 3' end of the gene. There was no evidence of statistical interaction between any of the 4 SNCA SNPs and rs1052553 or rs242557, neither on the multiplicative nor on the additive scale. INTERPRETATION: This study confirms the association between PD and both SNCA SNPs and the H1 MAPT haplotype. It shows, based on a variety of approaches, that the joint action of variants in these 2 loci is consistent with independent effects of the genes without additional interacting effects.
Περιγραφή
Λέξεις-κλειδιά
Adult, Age of Onset, Aged, Aged, 80 and over, Case-Control Studies, Female, *Genetic Predisposition to Disease, Humans, Logistic Models, Male, Middle Aged, Odds Ratio, Parkinson Disease/*genetics, Polymorphism, Single Nucleotide/*genetics, Retrospective Studies, alpha-Synuclein/*genetics, tau Proteins/*genetics
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/21391235
http://onlinelibrary.wiley.com/store/10.1002/ana.22321/asset/22321_ftp.pdf?v=1&t=h0je1s7i&s=e655486443030c9791c940c9a36aa9987cf4acda
http://onlinelibrary.wiley.com/store/10.1002/ana.22321/asset/22321_ftp.pdf?v=1&t=h0je1s7i&s=e655486443030c9791c940c9a36aa9987cf4acda
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