Abstract:
OBJECTIVE:Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown. METHODS:Investigators from the Genetic Epidemiology of Parkinson's Disease Consortium were invited to participate in the study. A total of 11 SNPs were genotyped in 8,750 cases and 8,955 controls. Fixed as well as random effects models were used to provide the summary risk estimates for these variants. We evaluated between-study heterogeneity and heterogeneity between populations of different ancestry. RESULTS:In the overall analysis, single nucleotide polymorphisms (SNPs) in 9 loci showed significant associations with protective per-allele odds ratios of 0.78-0.87 (LAMP3, BST1, and MAPT) and susceptibility per-allele odds ratios of 1.14-1.43 (STK39, GAK, SNCA, LRRK2, SYT11, and HIP1R). For 5 of the 9 replicated SNPs there was nominally significant between-site heterogeneity in the effect sizes (I(2) estimates ranged from 39% to 48%). Subgroup analysis by ethnicity showed significantly stronger effects for the BST1 (rs11724635) in Asian vs Caucasian populations and similar effects for SNCA, LRRK2, LAMP3, HIP1R, and STK39 in Asian and Caucasian populations, while MAPT rs2942168 and SYT11 rs34372695 were monomorphic in the Asian population, highlighting the role of population-specific heterogeneity in PD. CONCLUSION:Our study allows insight to understand the distribution of newly identified genetic factors contributing to PD and shows that large-scale evaluation in diverse populations is important to understand the role of population-specific heterogeneity.
journal_name
Neurologyjournal_title
Neurologyauthors
Sharma M,Ioannidis JP,Aasly JO,Annesi G,Brice A,Van Broeckhoven C,Bertram L,Bozi M,Crosiers D,Clarke C,Facheris M,Farrer M,Garraux G,Gispert S,Auburger G,Vilariño-Güell C,Hadjigeorgiou GM,Hicks AA,Hattori N,Jeon B,doi
10.1212/WNL.0b013e318264e353subject
Has Abstractpub_date
2012-08-14 00:00:00pages
659-67issue
7eissn
0028-3878issn
1526-632Xpii
WNL.0b013e318264e353journal_volume
79pub_type
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