Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality

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Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality. / Ghouse, Jonas; Have, Christian T; Skov, Morten W; Andreasen, Laura; Ahlberg, Gustav; Nielsen, Jonas B; Skaaby, Tea; Olesen, Søren-Peter; Grarup, Niels; Linneberg, Allan; Pedersen, Oluf; Vestergaard, Henrik; Haunsø, Stig; Svendsen, Jesper H; Hansen, Torben; Kanters, Jørgen K; Olesen, Morten S.

I: Genetics In Medicine, Bind 19, Nr. 5, 05.2017, s. 521-528.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › fagfællebedømt

Harvard

Ghouse, J, Have, CT, Skov, MW, Andreasen, L, Ahlberg, G, Nielsen, JB, Skaaby, T, Olesen, S-P, Grarup, N, Linneberg, A, Pedersen, O, Vestergaard, H, Haunsø, S, Svendsen, JH, Hansen, T, Kanters, JK & Olesen, MS 2017, 'Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality', Genetics In Medicine, bind 19, nr. 5, s. 521-528. https://doi.org/10.1038/gim.2016.151

APA

Ghouse, J., Have, C. T., Skov, M. W., Andreasen, L., Ahlberg, G., Nielsen, J. B., Skaaby, T., Olesen, S-P., Grarup, N., Linneberg, A., Pedersen, O., Vestergaard, H., Haunsø, S., Svendsen, J. H., Hansen, T., Kanters, J. K., & Olesen, M. S. (2017). Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality. Genetics In Medicine, 19(5), 521-528. https://doi.org/10.1038/gim.2016.151

Vancouver

Ghouse J, Have CT, Skov MW, Andreasen L, Ahlberg G, Nielsen JB o.a. Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality. Genetics In Medicine. 2017 maj;19(5):521-528. https://doi.org/10.1038/gim.2016.151

Author

Ghouse, Jonas ; Have, Christian T ; Skov, Morten W ; Andreasen, Laura ; Ahlberg, Gustav ; Nielsen, Jonas B ; Skaaby, Tea ; Olesen, Søren-Peter ; Grarup, Niels ; Linneberg, Allan ; Pedersen, Oluf ; Vestergaard, Henrik ; Haunsø, Stig ; Svendsen, Jesper H ; Hansen, Torben ; Kanters, Jørgen K ; Olesen, Morten S. / Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality. I: Genetics In Medicine. 2017 ; Bind 19, Nr. 5. s. 521-528.

Bibtex

@article{9ce6515498f844819f716ba3e34c57ee,
title = "Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality",
abstract = "PURPOSE: We investigated whether Brugada syndrome (BrS)-associated variants identified in the general population have an effect on J-point elevation as well as whether carriers of BrS variants were more prone to experience syncope and malignant ventricular arrhythmia and had increased mortality compared with noncarriers.METHODS: All BrS-associated variants were identified using the Human Gene Mutation Database (HGMD). Individuals were randomly selected from a general population study using whole-exome sequencing data (n = 870) and genotype array data (n = 6,161) and screened for BrS-associated variants. Electrocardiograms (ECG) were analyzed electronically, and data on syncope, ventricular arrhythmias, and mortality were obtained from administrative health-care registries.RESULTS: In HGMD, 382 BrS-associated genetic variants were identified. Of these, 28 variants were identified in the study cohort. None of the carriers presented with type 1 BrS ECG pattern. Mean J-point elevation in V1 and V2 were within normal guideline limits for carriers and noncarriers. There was no difference in syncope susceptibility (carriers 8/624; noncarriers 98/5,562; P = 0.51), ventricular arrhythmia (carriers 4/620; noncarriers 9/5,524; P = 0.24), or overall mortality (hazard ratio 0.93, 95% CI 0.63-1.4).CONCLUSIONS: Our data indicate that a significant number of BrS-associated variants are not the monogenic cause of BrS.Genet Med advance online publication 06 October 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.151.",
author = "Jonas Ghouse and Have, {Christian T} and Skov, {Morten W} and Laura Andreasen and Gustav Ahlberg and Nielsen, {Jonas B} and Tea Skaaby and S{\o}ren-Peter Olesen and Niels Grarup and Allan Linneberg and Oluf Pedersen and Henrik Vestergaard and Stig Hauns{\o} and Svendsen, {Jesper H} and Torben Hansen and Kanters, {J{\o}rgen K} and Olesen, {Morten S}",
year = "2017",
month = may,
doi = "10.1038/gim.2016.151",
language = "English",
volume = "19",
pages = "521--528",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "nature publishing group",
number = "5",

}

RIS

TY - JOUR

T1 - Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality

AU - Ghouse, Jonas

AU - Have, Christian T

AU - Skov, Morten W

AU - Andreasen, Laura

AU - Ahlberg, Gustav

AU - Nielsen, Jonas B

AU - Skaaby, Tea

AU - Olesen, Søren-Peter

AU - Grarup, Niels

AU - Linneberg, Allan

AU - Pedersen, Oluf

AU - Vestergaard, Henrik

AU - Haunsø, Stig

AU - Svendsen, Jesper H

AU - Hansen, Torben

AU - Kanters, Jørgen K

AU - Olesen, Morten S

PY - 2017/5

Y1 - 2017/5

N2 - PURPOSE: We investigated whether Brugada syndrome (BrS)-associated variants identified in the general population have an effect on J-point elevation as well as whether carriers of BrS variants were more prone to experience syncope and malignant ventricular arrhythmia and had increased mortality compared with noncarriers.METHODS: All BrS-associated variants were identified using the Human Gene Mutation Database (HGMD). Individuals were randomly selected from a general population study using whole-exome sequencing data (n = 870) and genotype array data (n = 6,161) and screened for BrS-associated variants. Electrocardiograms (ECG) were analyzed electronically, and data on syncope, ventricular arrhythmias, and mortality were obtained from administrative health-care registries.RESULTS: In HGMD, 382 BrS-associated genetic variants were identified. Of these, 28 variants were identified in the study cohort. None of the carriers presented with type 1 BrS ECG pattern. Mean J-point elevation in V1 and V2 were within normal guideline limits for carriers and noncarriers. There was no difference in syncope susceptibility (carriers 8/624; noncarriers 98/5,562; P = 0.51), ventricular arrhythmia (carriers 4/620; noncarriers 9/5,524; P = 0.24), or overall mortality (hazard ratio 0.93, 95% CI 0.63-1.4).CONCLUSIONS: Our data indicate that a significant number of BrS-associated variants are not the monogenic cause of BrS.Genet Med advance online publication 06 October 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.151.

AB - PURPOSE: We investigated whether Brugada syndrome (BrS)-associated variants identified in the general population have an effect on J-point elevation as well as whether carriers of BrS variants were more prone to experience syncope and malignant ventricular arrhythmia and had increased mortality compared with noncarriers.METHODS: All BrS-associated variants were identified using the Human Gene Mutation Database (HGMD). Individuals were randomly selected from a general population study using whole-exome sequencing data (n = 870) and genotype array data (n = 6,161) and screened for BrS-associated variants. Electrocardiograms (ECG) were analyzed electronically, and data on syncope, ventricular arrhythmias, and mortality were obtained from administrative health-care registries.RESULTS: In HGMD, 382 BrS-associated genetic variants were identified. Of these, 28 variants were identified in the study cohort. None of the carriers presented with type 1 BrS ECG pattern. Mean J-point elevation in V1 and V2 were within normal guideline limits for carriers and noncarriers. There was no difference in syncope susceptibility (carriers 8/624; noncarriers 98/5,562; P = 0.51), ventricular arrhythmia (carriers 4/620; noncarriers 9/5,524; P = 0.24), or overall mortality (hazard ratio 0.93, 95% CI 0.63-1.4).CONCLUSIONS: Our data indicate that a significant number of BrS-associated variants are not the monogenic cause of BrS.Genet Med advance online publication 06 October 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.151.

U2 - 10.1038/gim.2016.151

DO - 10.1038/gim.2016.151

M3 - Journal article

C2 - 27711072

VL - 19

SP - 521

EP - 528

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 5

ER -

ID: 167474416