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Genetic insight into sick sinus syndrome.
Thorolfsdottir RB, Sveinbjornsson G, Aegisdottir HM, Benonisdottir S, Stefansdottir L, Ivarsdottir EV, Halldorsson GH, Sigurdsson JK, Torp-Pedersen C, Weeke PE, Brunak S, Westergaard D, Pedersen OB, Sorensen E, Nielsen KR, Burgdorf KS, Banasik K, Brumpton B, Zhou W, Oddsson A, Tragante V, Hjorleifsson KE, Davidsson OB, Rajamani S, Jonsson S, Torfason B, Valgardsson AS, Thorgeirsson G, Frigge ML, Thorleifsson G, Norddahl GL, Helgadottir A, Gretarsdottir S, Sulem P, Jonsdottir I, Willer CJ, Hveem K, Bundgaard H, Ullum H, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K; DBDS Genomic Consortium. Thorolfsdottir RB, et al. Eur Heart J. 2021 May 21;42(20):1959-1971. doi: 10.1093/eurheartj/ehaa1108. Eur Heart J. 2021. PMID: 36282123
METHODS AND RESULTS: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, …
METHODS AND RESULTS: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenha …
Genetic insight into sick sinus syndrome.
Thorolfsdottir RB, Sveinbjornsson G, Aegisdottir HM, Benonisdottir S, Stefansdottir L, Ivarsdottir EV, Halldorsson GH, Sigurdsson JK, Torp-Pedersen C, Weeke PE, Brunak S, Westergaard D, Pedersen OB, Sorensen E, Nielsen KR, Burgdorf KS, Banasik K, Brumpton B, Zhou W, Oddsson A, Tragante V, Hjorleifsson KE, Davidsson OB, Rajamani S, Jonsson S, Torfason B, Valgardsson AS, Thorgeirsson G, Frigge ML, Thorleifsson G, Norddahl GL, Helgadottir A, Gretarsdottir S, Sulem P, Jonsdottir I, Willer CJ, Hveem K, Bundgaard H, Ullum H, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K; DBDS Genomic Consortium. Thorolfsdottir RB, et al. Eur Heart J. 2021 May 21;42(20):1959-1971. doi: 10.1093/eurheartj/ehaa1108. Eur Heart J. 2021. PMID: 33580673 Free PMC article.
METHODS AND RESULTS: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, …
METHODS AND RESULTS: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenha …
A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.
Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Helgadottir A, Gretarsdottir S, Benonisdottir S, Magnusdottir A, Davidsson OB, Rajamani S, Roden DM, Darbar D, Pedersen TR, Sabatine MS, Jonsdottir I, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Thorolfsdottir RB, et al. J Am Coll Cardiol. 2017 Oct 24;70(17):2157-2168. doi: 10.1016/j.jacc.2017.09.005. J Am Coll Cardiol. 2017. PMID: 29050564 Free PMC article.
RESULTS: The authors discovered 2 novel AF variants, the intergenic variant rs72700114, between the genes LINC01142 and METTL11B (risk allele frequency = 8.1%; odds ratio [OR]: 1.26; p = 3.1 10(-18)), and the missense variant p.Gly4098Ser in PLEC (frequency = 1.2%; OR: 1.5 …
RESULTS: The authors discovered 2 novel AF variants, the intergenic variant rs72700114, between the genes LINC01142 and METTL11B (risk allel …
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.
Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Nielsen JB, Jonsson S, Halldorsson GH, Melsted P, Ivarsdottir EV, Davidsson OB, Kristjansson RP, Thorleifsson G, Helgadottir A, Gretarsdottir S, Norddahl G, Rajamani S, Torfason B, Valgardsson AS, Sverrisson JT, Tragante V, Holmen OL, Asselbergs FW, Roden DM, Darbar D, Pedersen TR, Sabatine MS, Willer CJ, Løchen ML, Halldorsson BV, Jonsdottir I, Hveem K, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Thorolfsdottir RB, et al. Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018. Commun Biol. 2018. PMID: 30271950 Free PMC article.
We performed a meta-analysis of GWAS of atrial fibrillation among 29,502 cases and 767,760 controls from Iceland and the UK Biobank with follow-up in samples from Norway and the US, focusing on low-frequency coding and splice variants aiming to identify causal genes. We observe a …
We performed a meta-analysis of GWAS of atrial fibrillation among 29,502 cases and 767,760 controls from Iceland and the UK Biobank with fol …
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.
Bjornsson T, Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Norddahl GL, Helgadottir A, Gretarsdottir S, Magnusdottir A, Danielsen R, Sigurdsson EL, Adalsteinsdottir B, Gunnarsson SI, Jonsdottir I, Arnar DO, Helgason H, Gudbjartsson T, Gudbjartsson DF, Thorsteinsdottir U, Holm H, Stefansson K. Bjornsson T, et al. Eur Heart J. 2018 Sep 7;39(34):3243-3249. doi: 10.1093/eurheartj/ehy142. Eur Heart J. 2018. PMID: 29590334 Free PMC article.
METHODS AND RESULTS: We performed a genome-wide association study of CoA among Icelanders (120 cases and 355 166 controls) based on imputed variants identified through whole-genome sequencing. We found association with a rare (frequency = 0.34%) missense mutation p.Arg721T …
METHODS AND RESULTS: We performed a genome-wide association study of CoA among Icelanders (120 cases and 355 166 controls) based on imputed …
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.
Sveinbjornsson G, Olafsdottir EF, Thorolfsdottir RB, Davidsson OB, Helgadottir A, Jonasdottir A, Jonasdottir A, Bjornsson E, Jensson BO, Arnadottir GA, Kristinsdottir H, Stephensen SS, Oskarsson G, Gudbjartsson T, Sigurdsson EL, Andersen K, Danielsen R, Arnar DO, Jonsdottir I, Thorsteinsdottir U, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, Stefansson K. Sveinbjornsson G, et al. Circ Genom Precis Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151. Circ Genom Precis Med. 2018. PMID: 30354339 Free article.
RESULTS: We identified 2 DCM variants in established cardiomyopathy genes, a missense variant p.Phe145Leu in NKX2-5 carried by 1 in 7100 Icelanders ( P=7.010(-12)) and a frameshift variant p.Phe1626Serfs*40 in FLNC carried by 1 in 3600 Icelanders ( P=2.110(-10)). ...
RESULTS: We identified 2 DCM variants in established cardiomyopathy genes, a missense variant p.Phe145Leu in NKX2-5 carried by 1 in 7 …