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Your search keyword '"Cardiac Myosins/genetics"' showing total 2 results
Start Over "Cardiac Myosins/genetics" Topic genome-wide association study
2 results on '"Cardiac Myosins/genetics"'

1. Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation

Author

Michiel L. Bots, Annette Peters, Jennifer A. Brody, Pim van der Harst, Niek Verweij, Torben Hansen, Lu-Chen Weng, Marco V Perez, Honghuang Lin, Nona Sotoodehnia, Katharina Schramm, Dennis O. Mook-Kanamori, Marcus Dörr, Susan R. Heckbert, Henry J. Lin, Jie Yao, Paul L. Huang, Melanie Waldenberger, Bruno H. Stricker, Cornelia M. van Duijn, Jelena Kornej, Kent D. Taylor, Stephan B. Felix, Julia Ramirez, Xiuqing Guo, Peter van der Meer, Patrick T. Ellinor, Emelia J. Benjamin, Amelia W. Hall, Martina Müller-Nurasyid, Steven A. Lubitz, Alexander Teumer, Ilonca Vaartjes, Niels Grarup, Kathryn L. Lunetta, Marten E. van den Berg, Aaron Isaacs, Uwe Völker, Bruce M. Psaty, Jan A. Kors, Alvaro Alonso, Seung Hoan Choi, Rudolf A. de Boer, Allan Linneberg, Sandosh Padmanabhan, Helen R. Warren, Jerome I. Rotter, Nathan A. Bihlmeyer, Man Li, Jeffrey Haessler, Charles Kooperberg, Moritz F. Sinner, Sean J. Jurgens, Folkert W. Asselbergs, Dan E. Arking, Ruifang Li-Gao, Jessica van Setten, Patricia B. Munroe, Jørgen K. Kanters, Stefan Kääb, Fysiologie, RS: FHML MaCSBio, RS: Carim - B01 Blood proteins & engineering, Erasmus MC other, Medical Informatics, Internal Medicine, Epidemiology, and Cardiology

Subjects
0301 basic medicine, PROTEIN, population, 030204 cardiovascular system & hematology, Cardiovascular, Electrocardiography, 0302 clinical medicine, MYH6, Atrial Fibrillation, 2.1 Biological and endogenous factors, Connectin, atrial fibrillation, Aetiology, Exome, MYOSIN HEAVY-CHAIN, RISK, education.field_of_study, NAV1.8 Voltage-Gated Sodium Channel/genetics, Connectin/genetics, Atrial fibrillation, General Medicine, ASSOCIATION, Heart Disease, Duration (music), Cardiology, EXPRESSION, medicine.medical_specialty, HMGA2, Population, INDEXES, Quantitative Trait Loci, Transcription Factors/genetics, Electrophysiology, Genetic, Genome-wide Association Studies, Article, NAV1.8 Voltage-Gated Sodium Channel, 03 medical and health sciences, Myosin Heavy Chains/genetics, Clinical Research, Internal medicine, Cardiac conduction, Cardiac Myosins/genetics, P wave duration, medicine, Genetics, Humans, education, RECURRENCE, Homeodomain Proteins, Myosin Heavy Chains, business.industry, Human Genome, Genetic Variation, medicine.disease, electrophysiology, Atrial Fibrillation/ethnology, 030104 developmental biology, genome-wide association studies, Homeodomain Proteins/genetics, genetic, business, Cardiac Myosins, exome, Transcription Factors, Genome-Wide Association Study
Abstract

Background: The P-wave duration (PWD) is an electrocardiographic measurement that represents cardiac conduction in the atria. Shortened or prolonged PWD is associated with atrial fibrillation (AF). We used exome-chip data to examine the associations between common and rare variants with PWD. Methods: Fifteen studies comprising 64 440 individuals (56 943 European, 5681 African, 1186 Hispanic, 630 Asian) and ≈230 000 variants were used to examine associations with maximum PWD across the 12-lead ECG. Meta-analyses summarized association results for common variants; gene-based burden and sequence kernel association tests examined low-frequency variant-PWD associations. Additionally, we examined the associations between PWD loci and AF using previous AF genome-wide association studies. Results: We identified 21 common and low-frequency genetic loci (14 novel) associated with maximum PWD, including several AF loci ( TTN , CAND2 , SCN10A , PITX2 , CAV1 , SYNPO2L , SOX5 , TBX5, MYH6, RPL3L ). The top variants at known sarcomere genes ( TTN, MYH6 ) were associated with longer PWD and increased AF risk. However, top variants at other loci (eg, PITX2 and SCN10A ) were associated with longer PWD but lower AF risk. Conclusions: Our results highlight multiple novel genetic loci associated with PWD, and underscore the shared mechanisms of atrial conduction and AF. Prolonged PWD may be an endophenotype for several different genetic mechanisms of AF.

Published
2020

2. Comprehensive Field Synopsis and Systematic Meta-analyses of Genetic Association Studies in Cutaneous Melanoma

Author

George M. Spyrou, Johannes T. Roehr, Vasiliki Nicolaou, Elizabeth Kodela, Andreas Katsambas, Evangelos Evangelou, Foteini Chatzinasiou, Katerina P. Kypreou, Christina M. Lill, John P. A. Ioannidis, I. Stefanaki, Hensin Tsao, Lars Bertram, and Alexander J. Stratigos

Subjects
Cancer Research, Candidate gene, Skin Neoplasms, basal-cell carcinoma, Genome-wide association study, Review, Neoplasm Proteins/genetics, Gene Frequency, CDKN2A, Databases, Genetic, Membrane Transport Proteins/genetics, familial melanoma, Melanoma, Genetics, Molecular Epidemiology, Membrane Glycoproteins, biology, DNA-repair, Confounding, Oxidoreductases/genetics, Confounding Factors, Epidemiologic, Neoplasm Proteins, Antigens, Neoplasm/genetics, Oncology, Research Design, knowledge-base, Agouti Signaling Protein, Oxidoreductases, Receptor, Melanocortin, Type 1, SLC45A2, Genotype, Locus (genetics), Receptor, Melanocortin, Type 1/genetics, skin-cancer, Polymorphism, Single Nucleotide, Receptors, Calcitriol/genetics, Myosin Heavy Chains/genetics, Cyclin-Dependent Kinase Inhibitor p16/genetics, Meta-Analysis as Topic, Antigens, Neoplasm, Agouti Signaling Protein/genetics, Cardiac Myosins/genetics, Humans, Membrane Proteins/genetics, Allele frequency, Cyclin-Dependent Kinase Inhibitor p16, Genetic association, sequence variants, human pigmentation, Myosin Heavy Chains, Membrane Proteins, Membrane Transport Proteins, Reproducibility of Results, Membrane Glycoproteins/genetics, receptor mc1r gene, Confounding Factors (Epidemiology), Melanoma/*epidemiology/*genetics, genome-wide association, biology.protein, Receptors, Calcitriol, Skin Neoplasms/*epidemiology/*genetics, malignant-melanoma, Cardiac Myosins, Genome-Wide Association Study
Abstract

BACKGROUND: Although genetic studies have reported a number of loci associated with cutaneous melanoma (CM) risk, a comprehensive synopsis of genetic association studies published in the field and systematic meta-analysis for all eligible polymorphisms have not been reported. METHODS: We systematically annotated data from all genetic association studies published in the CM field (n = 145), including data from genome-wide association studies (GWAS), and performed random-effects meta-analyses across all eligible polymorphisms on the basis of four or more independent case-control datasets in the main analyses. Supplementary analyses of three available datasets derived from GWAS and GWAS-replication studies were also done. Nominally statistically significant associations between polymorphisms and CM were graded for the strength of epidemiological evidence on the basis of the Human Genome Epidemiology Network Venice criteria. All statistical tests were two-sided. RESULTS: Forty-two polymorphisms across 18 independent loci evaluated in four or more datasets including candidate gene studies and available GWAS data were subjected to meta-analysis. Eight loci were identified in the main meta-analyses as being associated with a risk of CM (P < .05) of which four loci showed a genome-wide statistically significant association (P < 1 x 10(-7)), including 16q24.3 (MC1R), 20q11.22 (MYH7B/PIGU/ASIP), 11q14.3 (TYR), and 5p13.2 (SLC45A2). Grading of the cumulative evidence by the Venice criteria suggested strong epidemiological credibility for all four loci with genome-wide statistical significance and one additional gene at 9p23 (TYRP1). In the supplementary meta-analyses, a locus at 9p21.3 (CDKN2A/MTAP) reached genome-wide statistical significance with CM and had strong epidemiological credibility. CONCLUSIONS: To the best of our knowledge, this is the first comprehensive field synopsis and systematic meta-analysis to identify genes associated with an increased susceptibility to CM. J Natl Cancer Inst

Published
2011
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