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Article

A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a.

American journal of human genetics - 1 Dec 2016

Ye Jiangchuan, Tucker Nathan R, Weng Lu-Chen, Clauss Sebastian, Lubitz Steven A, Ellinor Patrick T

Abstract excerpt

The most significantly associated genetic locus for atrial fibrillation (AF) is in chromosomal region 4q25, where four independent association signals have been identified. Although model-system studies suggest that altered PITX2c expression might underlie the association, the link between specific variants and the direction of effect on gene expression remains unknown for all four signals. In the present study,...

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Topics

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Share to Atrial Fibrillation
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deoxyribonucleases

Share to Enhancer Elements, Genetic

Share to Homeobox Protein PITX2

Share to Mammals

Share to Myocytes, Cardiac

Share to Transcription Factor AP-2

Source

Open in PubMed Open full text

Identifiers

PMID: 27866707
DOI: 10.1016/j.ajhg.2016.10.001
PMCID: PMC5142106

Genes

PITX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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