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18 results on '"Olesen, M.S."'

3. Association between maternal diabetes and cardiac left ventricular structure and function in the neonate: a study from the Copenhagen Baby Heart Study

Author

Ghouse, J, primary, Voegg, O, additional, Sillesen, A.S, additional, Pihl, C, additional, Axelsson, A.R, additional, Vejlstrup, N, additional, Oyen, N, additional, Jensen, M.T, additional, Wohlfart, J, additional, Damm, P, additional, Olesen, M.S, additional, Mathiesen, E.R, additional, Iversen, K, additional, Bundgaard, H, additional, and Boyd, H, additional

Published
2020
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15. Integrating Genetic, Transcriptional, and Functional Analyses to Identify 5 Novel Genes for Atrial Fibrillation

Author

Sinner, M.F., Tucker, N.R., Lunetta, K.L., Ozaki, K., Smith, J.G., Trompet, S., Bis, J.C., Lin, H.H., Chung, M.K., Nielsen, J.B., Lubitz, S.A., Krijthe, B.P., Magnani, J.W., Ye, J.C., Gollob, M.H., Tsunoda, T., Muller-Nurasyid, M., Lichtner, P., Peters, A., Dolmatova, E., Kubo, M., Smith, J.D., Psaty, B.M., Smith, N.L., Jukema, W., Chasman, D.I., Albert, C.M., Ebana, Y., Furukawa, T., MacFarlane, P.W., Harris, T.B., Darbar, D., Dorr, M., Holst, A.G., Svendsen, J.H., Hofman, A., Uitterlinden, A.G., Gudnason, V., Isobe, M., Malik, R., Dichgans, M., Rosand, J., Wagoner, D.R. van, Benjamin, E.J., Milan, D.J., Melander, O., Heckbert, S.R., Ford, I., Liu, Y.M., Barnard, J., Olesen, M.S., Stricker, B.H.C., Tanaka, T., Kaeaeb, S., Ellinor, P.T., METASTROKE Consortium AFGen Consor, Epidemiology, and Internal Medicine

Subjects
Male, single nucleotide, Genotype, Ubiquitin-Protein Ligases, Quantitative Trait Loci, Muscle Proteins, Quantitative trait locus, Bioinformatics, Article, polymorphism, Japan, Polymorphism (computer science), Physiology (medical), medicine, Animals, Humans, Genetic Predisposition to Disease, atrial fibrillation, genetics, Genotyping, Aged, Homeodomain Proteins, Fibrillation, business.industry, Chromosome Mapping, Nuclear Proteins, Atrial fibrillation, Middle Aged, Zebrafish Proteins, zebrafish, medicine.disease, Confidence interval, Europe, Repressor Proteins, Genetic Loci, Connexin 43, Gene Knockdown Techniques, Relative risk, Expression quantitative trait loci, gene expression, Female, epidemiology, medicine.symptom, T-Box Domain Proteins, Cardiology and Cardiovascular Medicine, business, Transcription Factors
Abstract

Background— Atrial fibrillation (AF) affects >30 million individuals worldwide and is associated with an increased risk of stroke, heart failure, and death. AF is highly heritable, yet the genetic basis for the arrhythmia remains incompletely understood. Methods and Results— To identify new AF-related genes, we used a multifaceted approach, combining large-scale genotyping in 2 ethnically distinct populations, cis-eQTL ( expression quantitative trait loci ) mapping, and functional validation. Four novel loci were identified in individuals of European descent near the genes NEURL (rs12415501; relative risk [RR]=1.18; 95% confidence interval [CI], 1.13–1.23; P =6.5×10 −16 ), GJA1 (rs13216675; RR=1.10; 95% CI, 1.06–1.14; P =2.2×10 −8 ), TBX5 (rs10507248; RR=1.12; 95% CI, 1.08–1.16; P =5.7×10 −11 ), and CAND2 (rs4642101; RR=1.10; 95% CI, 1.06–1.14; P =9.8×10 −9 ). In Japanese, novel loci were identified near NEURL (rs6584555; RR=1.32; 95% CI, 1.26–1.39; P =2.0×10 −25 ) and CUX2 (rs6490029; RR=1.12; 95% CI, 1.08–1.16; P =3.9×10 −9 ). The top single-nucleotide polymorphisms or their proxies were identified as cis-eQTLs for the genes CAND2 ( P =2.6×10 −19 ), GJA1 ( P =2.66×10 −6 ), and TBX5 ( P =1.36×10 −5 ). Knockdown of the zebrafish orthologs of NEURL and CAND2 resulted in prolongation of the atrial action potential duration (17% and 45%, respectively). Conclusions— We have identified 5 novel loci for AF. Our results expand the diversity of genetic pathways implicated in AF and provide novel molecular targets for future biological and pharmacological investigation.

Published
2014

16. Integrating genetic, transcriptional, and functional analyses to identify five novel genes for atrial fibrillation

Author

Sinner, M.F., Tucker, N.R., Lunetta, K.L., Ozaki, K., Smith, J.G., Trompet, S., Bis, J.C., Lin, H., Chung, M.K., Nielsen, J.B., Lubitz, S.A., Krijthe, B.P., Magnani, J.W., Ye, J., Gollob, M.H., Tsunoda, T., Müller-Nurasyid, M., Lichtner, P., Peters, A., Dolmatova, E., Kubo, M., Smith, J.D., Psaty, B.M., Smith, N.L., Jukema, J.W., Chasman, D.I., Albert, C.M., Ebana, Y., Furukawa, T., Macfarlane, P.W., Harris, T.B., Darbar, D., Dörr, M., Holst, A.G., Svendsen, J.H., Hofman, A., Uitterlinden, A., Gudnason, V., Isobe, M., Malik, R., Dichgans, M., Rosand, J., van Wagoner, D.R., METASTROKE Consortium (Kääb, S.), AFGen Consortium (Ellinor, P.T.), Benjamin, E.J., Milan, D.J., Melander, O., Heckbert, S.R, Ford, I., Liu, Y., Barnard, J., Olesen, M.S., Stricker, B.H., and Tanaka, T.

Subjects
Genome Wide Association Study, Atrial Fibrillation, Expression Experiments, Genetics, Association Studies, Genetics, Knockout Models, Zebrafish
Abstract

BACKGROUND: -Atrial fibrillation (AF) affects over 30 million individuals worldwide and is associated with an increased risk of stroke, heart failure, and death. AF is highly heritable, yet the genetic basis for the arrhythmia remains incompletely understood. METHODS AND RESULTS: -To identify new AF-related genes, we utilized a multifaceted approach, combining large-scale genotyping in two ethnically distinct populations, cis-eQTL mapping, and functional validation. Four novel loci were identified in individuals of European descent near the genes NEURL (rs12415501, RR=1.18, 95%CI 1.13 - 1.23, p=6.5x10(-16)), GJA1 (rs13216675, RR=1.10, 95%CI 1.06 - 1.14, p=2.2x10(-8)), TBX5 (rs10507248, RR=1.12, 95%CI 1.08 - 1.16, p=5.7x10(-11)), and CAND2 (rs4642101, RR=1.10, 95%CI 1.06 - 1.14, p=9.8x10(-9)). In Japanese, novel loci were identified near NEURL (rs6584555, RR=1.32, 95%CI 1.26-1.39, p=2.0x10(-25)) and CUX2 (rs6490029, RR=1.12, 95%CI 1.08-1.16, p=3.9x10(-9)). The top SNPs or their proxies were identified as cis-eQTLs for the genes CAND2 (p=2.6x10(-19)), GJA1 (p=2.66x10(-6)), and TBX5 (p=1.36x10(-05)). Knockdown of the zebrafish orthologs of NEURL and CAND2 resulted in prolongation of the atrial action potential duration (17% and 45%, respectively). CONCLUSIONS: -We have identified five novel loci for AF. Our results further expand the diversity of genetic pathways implicated in AF and provide novel molecular targets for future biological and pharmacological investigation.

Published
2014

18. Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.

Author

Paludan‐Müller, C., Ahlberg, G., Ghouse, J., Herfelt, C., Svendsen, J.H., Haunsø, S., Kanters, J.K., and Olesen, M.S.

Subjects
TACHYCARDIA, EXERCISE, PHYSIOLOGICAL stress, EXOMES, MEDICAL genetics
Abstract

Catecholaminergic Polymorphic Ventricular Tachycardia ( CPVT) is a highly lethal cardiac arrhythmia disease occurring during exercise or psychological stress. CPVT has an estimated prevalence of 1:10,000 and has mainly been associated with variants in calcium-regulating genes. Identification of potential false-positive pathogenic variants was conducted by searching the Exome Aggregation Consortium ( ExAC) database ( n = 60,706) for variants reported to be associated with CPVT. The pathogenicity of the interrogated variants was assessed using guidelines from the American College of Medical Genetics and Genomics ( ACMG) and in silico prediction tools. Of 246 variants 38 (15%) variants previously associated with CPVT were identified in the ExAC database. We predicted the CPVT prevalence to be 1:132. The ACMG standards classified 29% of ExAC variants as pathogenic or likely pathogenic. The in silico predictions showed a reduced probability of disease-causing effect for the variants identified in the exome database (p < 0.001). We have observed a large overrepresentation of previously CPVT-associated variants in a large exome database. Based on the frequency of CPVT in the general population, it is less likely that the previously proposed variants are associated with a highly penetrant monogenic form of the disease. [ABSTRACT FROM AUTHOR]

Published
2017
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