The genetic contribution to a number of neurological disorders is thought to be complex in nature, disease risk being driven by a combination of risk alleles commonly present in the human genome. Recently the completion of stages I and II of the international Haplotype Map project and the availability of high-plex SNP assays has made genome wide assay of common genetic variability a realistic endeavor. We have applied genome wide association analysis using 500,000SNPs to a Parkinsons disease cohort from the NIH funded neurogenetics repository. We have combined the data from this work with collaborators from Germany, the US, the UK and Japan. This work has lead to the identification of common variability in SNCA and MAPT as unequivocal risk factors for Parkinson's disease. Further this work has identified a novel locus on chromosome 1 as a risk factor for PD. Over the next period we will extend this work and combine results with other large genotyping projects in PD and related diseases to identify additional risk loci for this disease and perform replication genotyping a resequencing to nominate common and rare risk variants in these diseases.
| Burciu, Roxana G; Seidler, Rachael D; Shukla, Priyank et al. (2018) Multimodal neuroimaging and behavioral assessment of ?-synuclein polymorphism rs356219 in older adults. Neurobiol Aging 66:32-39 |
| Billingsley, K J; Bandres-Ciga, S; Saez-Atienzar, S et al. (2018) Genetic risk factors in Parkinson's disease. Cell Tissue Res 373:9-20 |
| Blauwendraat, Cornelis; Kia, Demis A; Pihlstrøm, Lasse et al. (2018) Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiol Aging 64:159.e5-159.e8 |
| Marioni, Riccardo E; McRae, Allan F; Bressler, Jan et al. (2018) Meta-analysis of epigenome-wide association studies of cognitive abilities. Mol Psychiatry 23:2133-2144 |
| Bonet-Ponce, Luis; Singleton, Andrew B (2017) Make dopamine neurons great again: An exciting new therapeutic option in parkinson's disease. Mov Disord 32:1164 |
| Siitonen, Ari; Nalls, Michael A; Hernández, Dena et al. (2017) Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study. Neurobiol Aging 53:195.e7-195.e10 |
| Mollenhauer, Brit; Caspell-Garcia, Chelsea J; Coffey, Christopher S et al. (2017) Longitudinal CSF biomarkers in patients with early Parkinson disease and healthy controls. Neurology 89:1959-1969 |
| Capozzo, Rosa; Sassi, Celeste; Hammer, Monia B et al. (2017) Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. Alzheimers Dement 13:858-869 |
| Noyce, Alastair J; Kia, Demis A; Hemani, Gibran et al. (2017) Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. PLoS Med 14:e1002314 |
| Hammer, Monia B; Ding, Jinhui; Mochel, Fanny et al. (2017) SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neurodegener Dis 17:208-212 |
Showing the most recent 10 out of 83 publications
