The pathogenicity of genetic variants previously associated with left ventricular non-compaction

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The pathogenicity of genetic variants previously associated with left ventricular non-compaction. / Abbasi, Yeganeh; Jabbari, Javad; Jabbari, Reza; Yang, Ren-Qiang; Risgaard, Bjarke; Køber, Lars; Haunsø, Stig; Tfelt-Hansen, Jacob.

In: Molecular Genetics & Genomic Medicine, Vol. 4, No. 2, 03.2016, p. 135-42.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Abbasi, Y, Jabbari, J, Jabbari, R, Yang, R-Q, Risgaard, B, Køber, L, Haunsø, S & Tfelt-Hansen, J 2016, 'The pathogenicity of genetic variants previously associated with left ventricular non-compaction', Molecular Genetics & Genomic Medicine, vol. 4, no. 2, pp. 135-42. https://doi.org/10.1002/mgg3.182

APA

Abbasi, Y., Jabbari, J., Jabbari, R., Yang, R-Q., Risgaard, B., Køber, L., ... Tfelt-Hansen, J. (2016). The pathogenicity of genetic variants previously associated with left ventricular non-compaction. Molecular Genetics & Genomic Medicine, 4(2), 135-42. https://doi.org/10.1002/mgg3.182

Vancouver

Abbasi Y, Jabbari J, Jabbari R, Yang R-Q, Risgaard B, Køber L et al. The pathogenicity of genetic variants previously associated with left ventricular non-compaction. Molecular Genetics & Genomic Medicine. 2016 Mar;4(2):135-42. https://doi.org/10.1002/mgg3.182

Author

Abbasi, Yeganeh ; Jabbari, Javad ; Jabbari, Reza ; Yang, Ren-Qiang ; Risgaard, Bjarke ; Køber, Lars ; Haunsø, Stig ; Tfelt-Hansen, Jacob. / The pathogenicity of genetic variants previously associated with left ventricular non-compaction. In: Molecular Genetics & Genomic Medicine. 2016 ; Vol. 4, No. 2. pp. 135-42.

Bibtex

@article{13ad7e829c5141c8b56a4975d07bd4bb,
title = "The pathogenicity of genetic variants previously associated with left ventricular non-compaction",
abstract = "BACKGROUND: Left ventricular non-compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC-associated variants that are common in the background population remains unknown. The aim of this study was to provide an updated list of previously reported LVNC-associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false-positive LVNC-associated variants.METHODS AND RESULTS: The Human Gene Mutation Database and PubMed were systematically searched to identify all previously reported LVNC-associated variants. Thereafter, the Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC), that both represent the background population, was searched for all variants. Four in silico prediction tools were assessed to determine the functional effects of these variants. The prediction results of those identified in the ESP and ExAC and those not identified in the ESP and ExAC were compared. In 12 genes, 60 LVNC-associated missense/nonsense variants were identified. MYH7 was the predominant gene, encompassing 24 of the 60 LVNC-associated variants. The ESP only harbored nine and ExAC harbored 18 of the 60 LVNC-associated variants. In total, eight out of nine ESP-positive variants overlapped with the 18 variants identified in ExAC database.CONCLUSIONS: In this article, we identified 9 ESP-positive and 18 ExAC-positive variants of 60 previously reported LVNC-associated variants, suggesting that these variants are not necessarily the monogenic cause of LVNC.",
author = "Yeganeh Abbasi and Javad Jabbari and Reza Jabbari and Ren-Qiang Yang and Bjarke Risgaard and Lars K{\o}ber and Stig Hauns{\o} and Jacob Tfelt-Hansen",
year = "2016",
month = "3",
doi = "10.1002/mgg3.182",
language = "English",
volume = "4",
pages = "135--42",
journal = "Molecular Genetics & Genomic Medicine",
issn = "2324-9269",
publisher = "JohnWiley & Sons Ltd",
number = "2",

}

RIS

TY - JOUR

T1 - The pathogenicity of genetic variants previously associated with left ventricular non-compaction

AU - Abbasi, Yeganeh

AU - Jabbari, Javad

AU - Jabbari, Reza

AU - Yang, Ren-Qiang

AU - Risgaard, Bjarke

AU - Køber, Lars

AU - Haunsø, Stig

AU - Tfelt-Hansen, Jacob

PY - 2016/3

Y1 - 2016/3

N2 - BACKGROUND: Left ventricular non-compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC-associated variants that are common in the background population remains unknown. The aim of this study was to provide an updated list of previously reported LVNC-associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false-positive LVNC-associated variants.METHODS AND RESULTS: The Human Gene Mutation Database and PubMed were systematically searched to identify all previously reported LVNC-associated variants. Thereafter, the Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC), that both represent the background population, was searched for all variants. Four in silico prediction tools were assessed to determine the functional effects of these variants. The prediction results of those identified in the ESP and ExAC and those not identified in the ESP and ExAC were compared. In 12 genes, 60 LVNC-associated missense/nonsense variants were identified. MYH7 was the predominant gene, encompassing 24 of the 60 LVNC-associated variants. The ESP only harbored nine and ExAC harbored 18 of the 60 LVNC-associated variants. In total, eight out of nine ESP-positive variants overlapped with the 18 variants identified in ExAC database.CONCLUSIONS: In this article, we identified 9 ESP-positive and 18 ExAC-positive variants of 60 previously reported LVNC-associated variants, suggesting that these variants are not necessarily the monogenic cause of LVNC.

AB - BACKGROUND: Left ventricular non-compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC-associated variants that are common in the background population remains unknown. The aim of this study was to provide an updated list of previously reported LVNC-associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false-positive LVNC-associated variants.METHODS AND RESULTS: The Human Gene Mutation Database and PubMed were systematically searched to identify all previously reported LVNC-associated variants. Thereafter, the Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC), that both represent the background population, was searched for all variants. Four in silico prediction tools were assessed to determine the functional effects of these variants. The prediction results of those identified in the ESP and ExAC and those not identified in the ESP and ExAC were compared. In 12 genes, 60 LVNC-associated missense/nonsense variants were identified. MYH7 was the predominant gene, encompassing 24 of the 60 LVNC-associated variants. The ESP only harbored nine and ExAC harbored 18 of the 60 LVNC-associated variants. In total, eight out of nine ESP-positive variants overlapped with the 18 variants identified in ExAC database.CONCLUSIONS: In this article, we identified 9 ESP-positive and 18 ExAC-positive variants of 60 previously reported LVNC-associated variants, suggesting that these variants are not necessarily the monogenic cause of LVNC.

U2 - 10.1002/mgg3.182

DO - 10.1002/mgg3.182

M3 - Journal article

VL - 4

SP - 135

EP - 142

JO - Molecular Genetics & Genomic Medicine

JF - Molecular Genetics & Genomic Medicine

SN - 2324-9269

IS - 2

ER -

ID: 177066329