A non-coding genetic variant maximally associated with serum urate levels is functionally linked to HNF4A-dependent PDZK1 expression.

doi:10.1093/hmg/ddy295

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Article

A non-coding genetic variant maximally associated with serum urate levels is functionally linked to HNF4A-dependent PDZK1 expression.

Human molecular genetics - 15 Nov 2018

Ketharnathan Sarada, Leask Megan, Boocock James, Phipps-Green Amanda J, Antony Jisha, O'Sullivan Justin M, Merriman Tony R, Horsfield Julia A

Abstract excerpt

The precise molecular mechanisms by which urate-associated genetic variants affect urate levels are unknown. Here, we tested for functional linkage of the maximally associated genetic variant rs1967017 at the PDZK1 locus to elevated PDZK1 expression. We performed expression quantitative trait loci (eQTL) and likelihood analyses and gene expression assays. Zebrafish were used to evaluate tissue-specific gene...

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PMID: 30124855
DOI: 10.1093/hmg/ddy295

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PDZK1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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