Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.

doi:10.1038/ejhg.2017.87

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Article

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.

European journal of human genetics : EJHG - 1 Aug 2017

Holstege Henne, van der Lee Sven J, Hulsman Marc, Wong Tsz Hang, van Rooij Jeroen Gj, Weiss Marjan, Louwersheimer Eva, Wolters Frank J, Amin Najaf, Uitterlinden André G, Hofman Albert, Ikram M Arfan, van Swieten John C, Meijers-Heijboer Hanne, van der Flier Wiesje M, Reinders Marcel Jt, van Duijn Cornelia M, Scheltens Philip

Abstract excerpt

Accumulating evidence suggests that genetic variants in the SORL1 gene are associated with Alzheimer disease (AD), but a strategy to identify which variants are pathogenic is lacking. In a discovery sample of 115 SORL1 variants detected in 1908 Dutch AD cases and controls, we identified the variant characteristics associated with SORL1 variant pathogenicity. Findings were replicated in an independent sample of...

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Identifiers

PMID: 28537274
DOI: 10.1038/ejhg.2017.87
PMCID: PMC5567154

Genes

SORL1
MAF
APOE
APP
PSEN1
PSEN2

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