Study
Whole-genome Sequencing Suggests Mechanisms for 22q11.2 deletion-associated Parkinson’s disease
Study ID | Alternative Stable ID | Type |
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EGAS00001002275 | Other |
Study Description
Objectives: To investigate disease risk mechanisms of early-onset Parkinson’s disease (PD) associated with the recurrent 22q11.2 deletion, a genetic risk factor for early-onset PD.
Methods: In a proof-of-principle study, we used whole-genome sequencing (WGS) to investigate sequence variants in nine adults with 22q11.2DS, three with neuropathologically confirmed early-onset PD and six without PD. Adopting an approach used recently to study schizophrenia in 22q11.2DS, here we tested candidate gene-sets relevant to PD.
Results: No mutations common to the cases with PD were found in the intact 22q11.2 region. While all were negative for rare mutations in a gene-set comprising PD disease-causing and risk genes, another candidate gene-set of 1000 genes functionally relevant to PD presented a nominally significant (P=0.03) enrichment of rare putatively damaging missense variants in the PD cases. Polygenic score results, based on common variants associated with PD risk, were non-significantly greater in those with PD.
Conclusions: The results of this first-ever pilot study of WGS in PD ... (Show More)
Study Datasets 1 dataset.
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Dataset ID | Description | Technology | Samples |
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EGAD00001003187 |
TBD
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Complete Genomics | 9 |
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