A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

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Μικρογραφία εικόνας

Ημερομηνία

Συγγραφείς

Kruger, R.
Sharma, M.
Riess, O.
Gasser, T.
Van Broeckhoven, C.
Theuns, J.
Aasly, J. O.
Annesi, G.
Bentivoglio, A. R.
Brice, A.

Τίτλος Εφημερίδας

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Τίτλος τόμου

Εκδότης

Περίληψη

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Είδος δημοσίευσης σε συνέδριο

Είδος περιοδικού

peer-reviewed

Είδος εκπαιδευτικού υλικού

Όνομα συνεδρίου

Όνομα περιοδικού

Neurobiol Aging

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Έκδοση βιβλίου

Συμπληρωματικός/δευτερεύων τίτλος

Περιγραφή

High-profile studies have provided conflicting results regarding the involvement of the Omi/HtrA2 gene in Parkinson's disease (PD) susceptibility. Therefore, we performed a large-scale analysis of the association of common Omi/HtrA2 variants in the Genetic Epidemiology of Parkinson's disease (GEO-PD) consortium. GEO-PD sites provided clinical and genetic data including affection status, gender, ethnicity, age at study, age at examination (all subjects); age at onset and family history of PD (patients). Genotyping was performed for the five most informative SNPs spanning the Omi/HtrA2 gene in approximately 2-3 kb intervals (rs10779958, rs2231250, rs72470544, rs1183739, rs2241028). Fixed as well as random effect models were used to provide summary risk estimates of Omi/HtrA2 variants. The 20 GEO-PD sites provided data for 6378 cases and 8880 controls. No overall significant associations for the five Omi/HtrA2 SNPs and PD were observed using either fixed effect or random effect models. The summary odds ratios ranged between 0.98 and 1.08 and the estimates of between-study heterogeneity were not large (non-significant Q statistics for all 5 SNPs; I(2) estimates 0-28%). Trends for association were seen for participants of Scandinavian descent for rs2241028 (OR 1.41, p=0.04) and for rs1183739 for age at examination (cut-off 65 years; OR 1.17, p=0.02), but these would not be significant after adjusting for multiple comparisons and their Bayes factors were only modest. This largest association study performed to define the role of any gene in the pathogenesis of Parkinson's disease revealed no overall strong association of Omi/HtrA2 variants with PD in populations worldwide.

Περιγραφή

Λέξεις-κλειδιά

Aged, Chi-Square Distribution, Cohort Studies, European Continental Ancestry Group/ethnology, Female, Gene Frequency, *Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, International Cooperation, Male, Meta-Analysis as Topic, Middle Aged, Mitochondrial Proteins/*genetics, Parkinson Disease/epidemiology/*ethnology/*genetics, Polymorphism, Single Nucleotide/*genetics, Serine Endopeptidases/*genetics

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Σύνδεσμος

http://www.ncbi.nlm.nih.gov/pubmed/20036034
http://ac.els-cdn.com/S0197458009003911/1-s2.0-S0197458009003911-main.pdf?_tid=6f5de4ef9470af781943452355915e0c&acdnat=1333363579_1334f94a17a7af976eabf0bf6e561944

Γλώσσα

en

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Γενική Περιγραφή / Σχόλια

Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος

Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής

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