Pseudoexfoliation and Alzheimer's associated CLU risk variant, rs2279590, lies within an enhancer element and regulates CLU, EPHX2 and PTK2B gene expression.

doi:10.1093/hmg/ddx329

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Pseudoexfoliation and Alzheimer's associated CLU risk variant, rs2279590, lies within an enhancer element and regulates CLU, EPHX2 and PTK2B gene expression.

Human molecular genetics - 15 Nov 2017

Padhy Biswajit, Hayat Bushra, Nanda Gargi Gouranga, Mohanty Pranjya Paramita, Alone Debasmita Pankaj

Abstract excerpt

Genetic variants at PTK2B-CLU locus pose as high-risk factors for many age-related disorders. However, the role of these variants in disease progression is less characterized. In this study, we aimed to investigate the functional significance of a clusterin intronic SNP, rs2279590, that has been associated with pseudoexfoliation, Alzheimer's disease (AD) and diabetes. We have previously shown that the alleles at...

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Share to Alzheimer Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Enhancer Elements, Genetic

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Share to Focal Adhesion Kinase 2

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Identifiers

PMID: 28973302
DOI: 10.1093/hmg/ddx329

Genes

CLU
EPHX2
HSF1

Provenance

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