Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.

doi:10.1093/hmg/ddw348

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Article

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.

Human molecular genetics - 15 Dec 2016

Lubbe Steven J, Escott-Price Valentina, Gibbs J Raphael, Nalls Mike A, Bras Jose, Price T Ryan, Nicolas Aude, Jansen Iris E, Mok Kin Y, Pittman Alan M, Tomkins James E, Lewis Patrick A, Noyce Alastair J, Lesage Suzanne, Sharma Manu, Schiff Elena R, Levine Adam P, Brice Alexis, Gasser Thomas, Hardy John, Heutink Peter, Wood Nicholas W, Singleton Andrew B, Williams Nigel M, Morris Huw R

Abstract excerpt

Oligogenic inheritance implies a role for several genetic factors in disease etiology. We studied oligogenic inheritance in Parkinson's (PD) by assessing the potential burden of additional rare variants in established Mendelian genes and/or GBA, in individuals with and without a primary pathogenic genetic cause in two large independent cohorts totaling 7,900 PD cases and 6,166 controls. An excess (≥30%) of cases...

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PMID: 27798102
DOI: 10.1093/hmg/ddw348
PMCID: PMC5418836

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