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The narrow-sense and common single nucleotide polymorphism heritability of early repolarization.

Bastiaenen, R; Nolte, IM; Munroe, PB; Riese, H; Nelson, C; O'Connor, H; Gang, Y; Warren, HR; Cabrera, C; Reinhard, W; et al. Bastiaenen, R; Nolte, IM; Munroe, PB; Riese, H; Nelson, C; O'Connor, H; Gang, Y; Warren, HR; Cabrera, C; Reinhard, W; Hengstenberg, C; Rijsdijk, FV; Spector, T; Snieder, H; Samani, NJ; Jamshidi, Y; Behr, ER (2019) The narrow-sense and common single nucleotide polymorphism heritability of early repolarization. Int J Cardiol, 279. pp. 135-140. ISSN 1874-1754 https://doi.org/10.1016/j.ijcard.2018.09.119
SGUL Authors: Bastiaenen, Rachel Marie Behr, Elijah Raphael

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Abstract

BACKGROUND: Early repolarization (ER) is a risk marker for sudden cardiac death. Higher risk is associated with horizontal/descending ST-segment ER in the inferior or inferolateral ECG leads. Studies in family cohorts have demonstrated substantial heritability for the ER pattern, but genome-wide association studies (GWAS) have failed to identify statistically significant and replicable genetic signals. METHODS AND RESULTS: We assessed the narrow-sense and common single nucleotide polymorphism (SNP) heritability of ER and ER subtypes using ECG data from 5829 individuals (TwinsUK, BRIGHT and GRAPHIC cohorts). ER prevalence was 8.3%. In 455 monozygous vs 808 dizygous twin pairs, concordances and twin correlations for ER subtypes (except horizontal/descending ST-segment ER) were higher and familial resemblance (except notched ER) was significant. Narrow-sense heritability estimates derived from 1263 female twin pairs using the structural equation program Mx ranged from 0.00-0.47 and common SNP heritability estimates derived from 4009 unrelated individuals of both sexes using Genome-wide Restricted Maximum Likelihood (GREML) ranged from 0.00-0.36, but none were statistically significant. CONCLUSION: From our data, ER shows limited genetic predisposition. There appears to be significant environmental influence and these modest narrow-sense and common SNP heritability estimates may explain why previous GWAS have been unsuccessful.

Item Type: Article
Additional Information: © 2018. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
Keywords: Common single nucleotide polymorphisms, Early repolarization, Heritability, Sudden cardiac death, Twins, 1102 Cardiovascular Medicine And Haematology, Cardiovascular System & Hematology
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Int J Cardiol
ISSN: 1874-1754
Language: eng
Dates:
DateEvent
15 March 2019Published
4 October 2018Published Online
28 September 2018Accepted
Publisher License: Creative Commons: Attribution 4.0
Projects:
Project IDFunderFunder ID
PG/12/38/29615British Heart Foundationhttp://dx.doi.org/10.13039/501100000274
PG/06/094British Heart Foundationhttp://dx.doi.org/10.13039/501100000274
G9521010DMedical Research Councilhttp://dx.doi.org/10.13039/501100000265
PG/02/128British Heart Foundationhttp://dx.doi.org/10.13039/501100000274
PubMed ID: 30297186
Go to PubMed abstract
URI: http://openaccess.sgul.ac.uk/id/eprint/110292
Publisher's version: https://doi.org/10.1016/j.ijcard.2018.09.119

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