A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke
Open accessAbstract
We expanded our genome-wide association study on atrial fibrillation (AF) in Iceland, which previously identified risk variants on 4q25, and tested the most significant associations in samples from Iceland, Norway and the United States. A variant in the ZFHX3 gene on chromosome 16q22, rs7193343-T, associated significantly with AF (odds ratio OR = 1.21, P = 1.4 x 10(-10)). This variant also associated with ischemic stroke (OR = 1.11, P = 0.00054) and cardioembolic stroke (OR = 1.22, P = 0.00021) in a combined analysis of five stroke samples.
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The 12 SNPs in the AF-GRS are all the SNPs that have been reported to be associated with AF at a genome-wide significance level (P<5×10−8).
“These are all the SNPs that have been reported to be associated with AF at a genome-wide significance level (P<5×10−8), including 4 SNPs at PITX2 locus.18-23”
From Twelve-single nucleotide polymorphism genetic risk score identifies individuals at increased risk for future atrial fibrillation and stroke (2014) · cites this paper as [21]
The AF-GRS comprises 12 SNPs that had been previously shown to be associated with AF at genome-wide significance.
“The AF-GRS comprised 12 SNPs that had been previously shown to be associated with AF at genome-wide significance.”
From Twelve-single nucleotide polymorphism genetic risk score identifies individuals at increased risk for future atrial fibrillation and stroke (2014) · cites this paper as [21]
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“Background Recent genome-wide association studies have identified 3 loci, on chromosomes 4q25 (near PITX2), 16q22 (in ZFHX3), and 1q21 (in KCNN3), that associate with either typical or lone AF.”
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“Additionally, a locus on chromosome 16q22 involving ZFHX3 (the zinc finger homeobox protein 3) has been associated with both atrial fibrillation and cardioembolic stroke.(53) Similarly, a pooled analysis demonstrated that 6 SNPs in the chromosome 9p21 locus, first identified through a heart disease GWAS,(26) are assoc…”
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BackgroundStroke in Women: Risk Factors and Clinical Biomarkers
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“This approach has identified common variants on the chromosome 4q25 locus and more recently common SNPs on chromosomes 16q22 (26) and q21 (27) that confer an increased risk (OR: 1.”
BackgroundSelf-citationChallenges and opportunities in stroke genetics
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“Indeed, all validated GWAS SNPs for ischaemic stroke to date have been stroke subtypespecific [1,2,3,4,5], indicating the importance of subtyping of cases.”
BackgroundSelf-citationEpidemiology of Ischemic Stroke
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Aberrant sodium influx causes cardiomyopathy and atrial fibrillation in mice
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“a locus specifically associated with atrial fibrillation and cardioembolic stroke.(108,109) Another study identified risk variation”
BackgroundPitx2 impairs calcium handling in a dose-dependent manner by modulating Wnt signalling
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“Details on the outcome ascertainment in the four studies have been published.(9-12) Stroke events were classified as ischemic, hemorrhagic, or unknown based on clinical and imaging criteria.”
BackgroundSelf-citationA Missense Variant in PLEC Increases Risk of Atrial Fibrillation
Þórólfsdóttir, R. B., Sveinbjörnsson, G., Sulem, P., Helgadóttir, A., Grétarsdóttir, S., Benónísdóttir, S., Magnusdottir, A., Davidsson, O. B., Rajamani, S., Roden, D. M., et al. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2017.09.005 · Cited by 80 · see citing works
Self-citationGenome-wide association studies of atrial fibrillation: past, present, and future
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“ZFHX3 is expressed in mouse hearts,(61) and in several human tissues, including the heart, liver, lung, kidney, pituitary gland, and brain; in the recent Icelandic AF GWAS, however, an association between expression levels and the top SNP rs7193343 was not established.(29)”
BackgroundResultInfluentialGenomewide Association Studies in Cardiovascular Disease—An Update 2011
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“There was no significant allelic or genotypic association between SNP rs7193343 and AF (Tables 2, 3), which is consistent with the result in the Hong Kong AF cohort reported by Gudbjartsson et al. (2009).”
InfluentialAdvances in Genomic Analysis of Stroke
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“The TOAST classification was divided in 5 categories: (1) largeartery occlusive disease (large vessel disease); (2) cardioembolism, (3) lacunar stroke (small vessel disease); (4) other determined causative factor; and (5) undetermined: causative agent unknown despite diagnostic efforts or 1 cause or incomplete evaluat…”
MethodGenetics of Atrial Fibrillation
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Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?
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“Two genes (PITX2 and ZFHX3), located in chromosomes 4q25 and 16q22 were identified to be significant risk factors of AF and CE stroke [48,49].”
BackgroundShared genetic contribution to ischemic stroke and Alzheimer's disease
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BackgroundGenome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases
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Self-citationCommon variation in atrial fibrillation: navigating the path from genetic association to mechanism
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“This window is centred on the lead rs2200733 SNP [11] that has repeatedly been identified as the most significant variant associated with AF [10-12,24-26], and spans a region that includes other distal SNPs (rs2634073 and rs17570669) that lie in the proximity of sequences highly conserved between human and mouse (Figu…”
Genetic insight into sick sinus syndrome
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“through AF since these have consistently been the strongest AF loci in GWAS.(42,50,51) Conversely, p.”
BackgroundSelf-citationKorean Atrial Fibrillation (AF) Network: Genetic Variants for AF Do Not Predict Ablation Success
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Self-citationDifferential impact of race and risk factors on incidence of atrial fibrillation
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Self-citationProteomic plasma profile of psoriatic patients
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Self-citation
- Authors
- Gudbjartsson, D. F., Holm, H., Gretarsdottir, S., Thorleifsson, G., Walters, G. B., Thorgeirsson, G., Gulcher, J., Mathiesen, E. B., Njølstad, I., Nyrnes, A., Wilsgaard, T., Hald, E. M., Hveem, K., Stoltenberg, C., Kucera, G., Stubblefield, T., Carter, S., Roden, D., Ng, M. C. Y., Baum, L., So, W. Y., Wong, K. S., Chan, J. C. N., Gieger, C., Wichmann, H.-E., Gschwendtner, A., Dichgans, M., Kuhlenbäumer, G., Berger, K., Ringelstein, E. B., Bevan, S., Markus, H. S., Kostulas, K., Hillert, J., Sveinbjörnsdóttir, S., Valdimarsson, E. M., Løchen, M.-L., Ma, R. C. W., Darbar, D., Kong, A., Arnar, D. O., Thorsteinsdottir, U., & Stefansson, K.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- University Hospital of North Norway (NO)
- UiT The Arctic University of Norway (NO)
- Norwegian University of Science and Technology (NO)
- Norwegian Institute of Public Health (NO)
- Vanderbilt University Medical Center (US)
- Chinese University of Hong Kong (HK)
- Helmholtz Munich (DE)
- Ludwig-Maximilians-Universität München (DE)
- Christian-Albrechts-Universität zu Kiel (DE)
- University of Münster (DE)
- St George's, University of London (GB)
- Karolinska University Hospital (SE)
- National University Hospital of Iceland (IS)
- Corresponding author
- Gudbjartsson, Daniel F
- ORCID
- Gudbjartsson, Daniel F
- Walters, G Bragi
- Mathiesen, Ellisiv B
- Njølstad, Inger
- Wilsgaard, Tom
- Hald, Erin M
- Hveem, Kristian
- Stoltenberg, Camilla
- Roden, Dan
- Ng, Maggie C Y
- Baum, Larry
- So, Wing Yee
- Wong, Ka Sing
- Chan, Juliana C N
- Gieger, Christian
- Wichmann, H-Erich
- Dichgans, Martin
- Kuhlenbäumer, Gregor
- Bevan, Steve
- Markus, Hugh S
- Hillert, Jan
- Løchen, Maja-Lisa
- Darbar, Dawood
- Kong, Augustine
- Venue
- Nature Genetics
- Published
- 2009-07-13
- Volume
- 41
- Issue
- 8
- Pages
- 876-878
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2740741
- OpenAlex
- W2001473080
- Cited by
- 489
- References
- 12
- Citations by year
- 2026: 8 · 2025: 14 · 2024: 19 · 2023: 15 · 2022: 12 · 2021: 17 · 2020: 17 · 2019: 22 · 2018: 25 · 2017: 44 · 2016: 39 · 2015: 38 · 2014: 53 · 2013: 37 · 2012: 40
- FWCI
- 27.60
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Site cant be reached (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- National Heart, Lung, and Blood Institute (U01 HL-65962, HL075266, K23HL075266, U01HL065962)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Atrial Fibrillation Management and Outcomes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- atrial fibrillation, ischemic stroke, cardioembolic stroke, ZFHX3, chromosome 16q22, genetic susceptibility, genome-wide association study, Icelandic population
- MeSH terms
- Atrial Fibrillation, Base Sequence, Brain Ischemia, Chromosomes, Human, Pair 16, Humans, Mutation, Homeodomain Proteins, Genetic Predisposition to Disease, Stroke
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