The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.

doi:10.1038/s41467-021-26741-7

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Article

The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.

Nature communications - 8 Nov 2021

Hateley Shannon, Lopez-Izquierdo Angelica, Jou Chuanchau J, Cho Scott, Schraiber Joshua G, Song Shiya, Maguire Colin T, Torres Natalia, Riedel Michael, Bowles Neil E, Arrington Cammon B, Kennedy Brett J, Etheridge Susan P, Lai Shuping, Pribble Chase, Meyers Lindsay, Lundahl Derek, Byrnes Jake, Granka Julie M, Kauffman Christopher A, Lemmon Gordon, Boyden Steven, Scott Watkins W, Karren Mary Anne, Knight Stacey, Brent Muhlestein J, Carlquist John F, Anderson Jeffrey L, Chahine Kenneth G, Shah Khushi U, Ball Catherine A, Benjamin Ivor J, Yandell Mark, Tristani-Firouzi Martin

Abstract excerpt

The genetic architecture of atrial fibrillation (AF) encompasses low impact, common genetic variants and high impact, rare variants. Here, we characterize a high impact AF-susceptibility allele, KCNQ1 R231H, and describe its transcontinental geographic distribution and history. Induced pluripotent stem cell-derived cardiomyocytes procured from risk allele carriers exhibit abbreviated action potential duration,...

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Identifiers

PMID: 34750360
DOI: 10.1038/s41467-021-26741-7
PMCID: PMC8575962

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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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