A rare variant in MYH6 is associated with high risk of sick sinus syndrome
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
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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