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Whole Exome Sequencing in Familial Parkinson Disease

ABSTRACT:

We have an ongoing study that has recruited families having at least a sibling pair with Parkinson disease (PD). Families have been screened for mutations in known PD causative genes (LRRK2, parkin, etc). Following review of families without a causative mutation, we selected families for whole exome sequencing that had the strongest history of PD and with the most definitive diagnosis. All families have at least 3 affected family members who were evaluated as part of this study. Only affected family members were included for whole exome sequencing.

PROVIDER: phs000376.v1.p1 | EGA |

REPOSITORIES: EGA

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Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

Pankratz Nathan N Wilk Jemma B JB Latourelle Jeanne C JC DeStefano Anita L AL Halter Cheryl C Pugh Elizabeth W EW Doheny Kimberly F KF Gusella James F JF Nichols William C WC Foroud Tatiana T Myers Richard H RH

Human genetics 20081106 6

Five genes have been identified that contribute to Mendelian forms of Parkinson disease (PD); however, mutations have been found in fewer than 5% of patients, suggesting that additional genes contribute to disease risk. Unlike previous studies that focused primarily on sporadic PD, we have performed the first genomewide association study (GWAS) in familial PD. Genotyping was performed with the Illumina HumanCNV370Duo array in 857 familial PD cases and 867 controls. A logistic model was employed ...[more]

PMID: 18985386

Publication: 1/5

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Whole Exome Sequencing in Familial Parkinson Disease

Project description:<p>We have an ongoing study that has recruited families having at least a sibling pair with Parkinson disease (PD). Families have been screened for mutations in known PD causative genes (LRRK2, parkin, etc). Following review of families without a causative mutation, we selected families for whole exome sequencing that had the strongest history of PD and with the most definitive diagnosis. All families have at least 3 affected family members who were evaluated as part of this study. Only affected family members were included for whole exome sequencing.</p>

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