Intronic rs2147363 variant in ATP7B transcription factor-binding site associated with Alzheimer's disease.

doi:10.3233/JAD-130431

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Article

Intronic rs2147363 variant in ATP7B transcription factor-binding site associated with Alzheimer's disease.

Journal of Alzheimer's disease : JAD - 1 Jan 2013

Bucossi Serena, Polimanti Renato, Ventriglia Mariacarla, Mariani Stefania, Siotto Mariacristina, Ursini Francesca, Trotta Laura, Scrascia Federica, Callea Antonio, Vernieri Fabrizio, Squitti Rosanna

Abstract excerpt

Copper homeostasis abnormalities have been shown to be associated with Alzheimer's disease (AD), possibly by accelerating amyloid-β toxicity and plaque formation. The ATP7B gene plays a key role in controlling body copper balance. Our previous studies showed an association between ATP7B variants and AD risk. Among these variants, an intronic single nucleotide polymorphism, rs2147363, was associated with AD risk....

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PMID: 23948886
DOI: 10.3233/JAD-130431

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