Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation

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Standard

Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation. / Clausen, Alexander Guldmann; Vad, Oliver Bundgaard; Andersen, Julie Husted; Olesen, Morten Salling.

I: Frontiers in Cardiovascular Medicine, Bind 8, 650667, 2021.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Clausen, AG, Vad, OB, Andersen, JH & Olesen, MS 2021, 'Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation', Frontiers in Cardiovascular Medicine, bind 8, 650667. https://doi.org/10.3389/fcvm.2021.650667

APA

Clausen, A. G., Vad, O. B., Andersen, J. H., & Olesen, M. S. (2021). Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation. Frontiers in Cardiovascular Medicine, 8, [650667]. https://doi.org/10.3389/fcvm.2021.650667

Vancouver

Clausen AG, Vad OB, Andersen JH, Olesen MS. Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation. Frontiers in Cardiovascular Medicine. 2021;8. 650667. https://doi.org/10.3389/fcvm.2021.650667

Author

Clausen, Alexander Guldmann ; Vad, Oliver Bundgaard ; Andersen, Julie Husted ; Olesen, Morten Salling. / Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation. I: Frontiers in Cardiovascular Medicine. 2021 ; Bind 8.

Bibtex

@article{50f0b3bfc8964f60928368f606278b42,

title = "Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation",

abstract = "Multiple genome-wide association studies (GWAS) have identified numerous loci associated with atrial fibrillation (AF). However, the genes driving these associations and how they contribute to the AF pathogenesis remains poorly understood. To identify genes likely to be driving the observed association, we searched the FinnGen study consisting of 12,859 AF cases and 73,341 controls for rare genetic variants predicted to cause loss-of-function. A specific splice site variant was found in the SYNPO2L gene, located in an AF associated locus on chromosome 10. This variant was associated with an increased risk of AF with a relatively high odds ratio of 3.5 (p = 9.9 x 10(-8)). SYNPO2L is an important gene involved in the structural development and function of the cardiac myocyte and our findings thus support the recent suggestions that AF can present as atrial cardiomyopathy.",

keywords = "atrial fibrillation, genetics, arrhythmia, splice site variant, cardiomyopathy, cardiology",

author = "Clausen, {Alexander Guldmann} and Vad, {Oliver Bundgaard} and Andersen, {Julie Husted} and Olesen, {Morten Salling}",

year = "2021",

doi = "10.3389/fcvm.2021.650667",

language = "English",

volume = "8",

journal = "Frontiers in Cardiovascular Medicine",

issn = "2297-055X",

publisher = "Frontiers Media",

}

RIS

TY - JOUR

T1 - Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation

AU - Clausen, Alexander Guldmann

AU - Vad, Oliver Bundgaard

AU - Andersen, Julie Husted

AU - Olesen, Morten Salling

PY - 2021

Y1 - 2021

N2 - Multiple genome-wide association studies (GWAS) have identified numerous loci associated with atrial fibrillation (AF). However, the genes driving these associations and how they contribute to the AF pathogenesis remains poorly understood. To identify genes likely to be driving the observed association, we searched the FinnGen study consisting of 12,859 AF cases and 73,341 controls for rare genetic variants predicted to cause loss-of-function. A specific splice site variant was found in the SYNPO2L gene, located in an AF associated locus on chromosome 10. This variant was associated with an increased risk of AF with a relatively high odds ratio of 3.5 (p = 9.9 x 10(-8)). SYNPO2L is an important gene involved in the structural development and function of the cardiac myocyte and our findings thus support the recent suggestions that AF can present as atrial cardiomyopathy.

AB - Multiple genome-wide association studies (GWAS) have identified numerous loci associated with atrial fibrillation (AF). However, the genes driving these associations and how they contribute to the AF pathogenesis remains poorly understood. To identify genes likely to be driving the observed association, we searched the FinnGen study consisting of 12,859 AF cases and 73,341 controls for rare genetic variants predicted to cause loss-of-function. A specific splice site variant was found in the SYNPO2L gene, located in an AF associated locus on chromosome 10. This variant was associated with an increased risk of AF with a relatively high odds ratio of 3.5 (p = 9.9 x 10(-8)). SYNPO2L is an important gene involved in the structural development and function of the cardiac myocyte and our findings thus support the recent suggestions that AF can present as atrial cardiomyopathy.

KW - atrial fibrillation

KW - genetics

KW - arrhythmia

KW - splice site variant

KW - cardiomyopathy

KW - cardiology

U2 - 10.3389/fcvm.2021.650667

DO - 10.3389/fcvm.2021.650667

M3 - Journal article

C2 - 33768119

VL - 8

JO - Frontiers in Cardiovascular Medicine

JF - Frontiers in Cardiovascular Medicine

SN - 2297-055X

M1 - 650667

ER -

ID: 291677232