A rare variant in MYH6 is associated with high risk of sick sinus syndrome

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A rare variant in MYH6 is associated with high risk of sick sinus syndrome. / Holm, Hilma; Gudbjartsson, Daniel F; Sulem, Patrick; Masson, Gisli; Helgadottir, Hafdis Th; Zanon, Carlo; Magnusson, Olafur Th; Helgason, Agnar; Saemundsdottir, Jona; Gylfason, Arnaldur; Stefansdottir, Hrafnhildur; Gretarsdottir, Solveig; Matthiasson, Stefan E; Thorgeirsson, Gu Mundur; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Stefansson, Hreinn; Werge, Thomas; Rafnar, Thorunn; Kiemeney, Lambertus A; Parvez, Babar; Muhammad, Raafia; Roden, Dan M; Darbar, Dawood; Thorleifsson, Gudmar; Walters, G Bragi; Kong, Augustine; Thorsteinsdottir, Unnur; Arnar, David O; Stefansson, Kari.

I: Nature Genetics, Bind 43, Nr. 4, 01.04.2011, s. 316-20.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Holm, H, Gudbjartsson, DF, Sulem, P, Masson, G, Helgadottir, HT, Zanon, C, Magnusson, OT, Helgason, A, Saemundsdottir, J, Gylfason, A, Stefansdottir, H, Gretarsdottir, S, Matthiasson, SE, Thorgeirsson, GM, Jonasdottir, A, Sigurdsson, A, Stefansson, H, Werge, T, Rafnar, T, Kiemeney, LA, Parvez, B, Muhammad, R, Roden, DM, Darbar, D, Thorleifsson, G, Walters, GB, Kong, A, Thorsteinsdottir, U, Arnar, DO & Stefansson, K 2011, 'A rare variant in MYH6 is associated with high risk of sick sinus syndrome', Nature Genetics, bind 43, nr. 4, s. 316-20. https://doi.org/10.1038/ng.781, https://doi.org/10.1038/ng.781

APA

Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H. T., Zanon, C., Magnusson, O. T., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., Matthiasson, S. E., Thorgeirsson, G. M., Jonasdottir, A., Sigurdsson, A., Stefansson, H., Werge, T., Rafnar, T., ... Stefansson, K. (2011). A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nature Genetics, 43(4), 316-20. https://doi.org/10.1038/ng.781, https://doi.org/10.1038/ng.781

Vancouver

Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C o.a. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nature Genetics. 2011 apr. 1;43(4):316-20. https://doi.org/10.1038/ng.781, https://doi.org/10.1038/ng.781

Author

Holm, Hilma ; Gudbjartsson, Daniel F ; Sulem, Patrick ; Masson, Gisli ; Helgadottir, Hafdis Th ; Zanon, Carlo ; Magnusson, Olafur Th ; Helgason, Agnar ; Saemundsdottir, Jona ; Gylfason, Arnaldur ; Stefansdottir, Hrafnhildur ; Gretarsdottir, Solveig ; Matthiasson, Stefan E ; Thorgeirsson, Gu Mundur ; Jonasdottir, Aslaug ; Sigurdsson, Asgeir ; Stefansson, Hreinn ; Werge, Thomas ; Rafnar, Thorunn ; Kiemeney, Lambertus A ; Parvez, Babar ; Muhammad, Raafia ; Roden, Dan M ; Darbar, Dawood ; Thorleifsson, Gudmar ; Walters, G Bragi ; Kong, Augustine ; Thorsteinsdottir, Unnur ; Arnar, David O ; Stefansson, Kari. / A rare variant in MYH6 is associated with high risk of sick sinus syndrome. I: Nature Genetics. 2011 ; Bind 43, Nr. 4. s. 316-20.

Bibtex

@article{9c96460b7e8e4be69b8700e2ce95e21b,
title = "A rare variant in MYH6 is associated with high risk of sick sinus syndrome",
abstract = "Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 12.53 and P = 1.5 × 10(-29). We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant.",
author = "Hilma Holm and Gudbjartsson, {Daniel F} and Patrick Sulem and Gisli Masson and Helgadottir, {Hafdis Th} and Carlo Zanon and Magnusson, {Olafur Th} and Agnar Helgason and Jona Saemundsdottir and Arnaldur Gylfason and Hrafnhildur Stefansdottir and Solveig Gretarsdottir and Matthiasson, {Stefan E} and Thorgeirsson, {Gu Mundur} and Aslaug Jonasdottir and Asgeir Sigurdsson and Hreinn Stefansson and Thomas Werge and Thorunn Rafnar and Kiemeney, {Lambertus A} and Babar Parvez and Raafia Muhammad and Roden, {Dan M} and Dawood Darbar and Gudmar Thorleifsson and Walters, {G Bragi} and Augustine Kong and Unnur Thorsteinsdottir and Arnar, {David O} and Kari Stefansson",
year = "2011",
month = apr,
day = "1",
doi = "10.1038/ng.781",
language = "English",
volume = "43",
pages = "316--20",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "4",

}

RIS

TY - JOUR

T1 - A rare variant in MYH6 is associated with high risk of sick sinus syndrome

AU - Holm, Hilma

AU - Gudbjartsson, Daniel F

AU - Sulem, Patrick

AU - Masson, Gisli

AU - Helgadottir, Hafdis Th

AU - Zanon, Carlo

AU - Magnusson, Olafur Th

AU - Helgason, Agnar

AU - Saemundsdottir, Jona

AU - Gylfason, Arnaldur

AU - Stefansdottir, Hrafnhildur

AU - Gretarsdottir, Solveig

AU - Matthiasson, Stefan E

AU - Thorgeirsson, Gu Mundur

AU - Jonasdottir, Aslaug

AU - Sigurdsson, Asgeir

AU - Stefansson, Hreinn

AU - Werge, Thomas

AU - Rafnar, Thorunn

AU - Kiemeney, Lambertus A

AU - Parvez, Babar

AU - Muhammad, Raafia

AU - Roden, Dan M

AU - Darbar, Dawood

AU - Thorleifsson, Gudmar

AU - Walters, G Bragi

AU - Kong, Augustine

AU - Thorsteinsdottir, Unnur

AU - Arnar, David O

AU - Stefansson, Kari

PY - 2011/4/1

Y1 - 2011/4/1

N2 - Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 12.53 and P = 1.5 × 10(-29). We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant.

AB - Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 12.53 and P = 1.5 × 10(-29). We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant.

U2 - 10.1038/ng.781

DO - 10.1038/ng.781

M3 - Journal article

C2 - 21378987

VL - 43

SP - 316

EP - 320

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 4

ER -

ID: 34193718