Replication of SCN5A Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies. Jeff, J. M, Brown-Gentry, K., Goodloe, R., Ritchie, M. D, Denny, J. C, Kho, A. N, Armstrong, L. L, McClellan, J., Mayo, P., Allen, M., Jin, H., Gillani, N. B, Schnetz-Boutaud, N., Dilks, H. H, Basford, M. A, Pacheco, J. A, Jarvik, G. P, Chisholm, R. L, Roden, D. M, Hayes, M G., & Crawford, D. C Evol Comput Mach Learn Data Min Bioinform, 2014:939-951, 2014. ![Replication of SCN5A Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex The NAv1.5 sodium channel α subunit is the predominant α-subunit expressed in the heart and is associated with cardiac arrhythmias. We tested five previously identified SCN5A variants (rs7374138, rs7637849, rs7637849, rs7629265, and rs11129796) for an association with PR interval and QRS duration in two unique study populations: the Third National Health and Nutrition Examination Survey (NHANES III, n= 552) accessed by the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) and a combined dataset (n= 455) from two biobanks linked to electronic medical records from Vanderbilt University (BioVU) and Northwestern University (NUgene) as part of the electronic Medical Records & Genomics (eMERGE) network. A meta-analysis including all three study populations (n 4,000) suggests that eight SCN5A associations were significant for both QRS duration and PR interval (p<5.0E-3) with little evidence for heterogeneity across the study populations. These results suggest that published SCN5A associations replicate across different study designs in a meta-analysis and represent an important first step in utility of multiple study designs for genetic studies and the identification/characterization of genetic variants associated with ECG traits in African-descent populations.
@article{Jeff:2014aa,
abstract = {The NAv1.5 sodium channel α subunit is the predominant α-subunit expressed in the heart and is associated with cardiac arrhythmias. We tested five previously identified SCN5A variants (rs7374138, rs7637849, rs7637849, rs7629265, and rs11129796) for an association with PR interval and QRS duration in two unique study populations: the Third National Health and Nutrition Examination Survey (NHANES III, n= 552) accessed by the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) and a combined dataset (n= 455) from two biobanks linked to electronic medical records from Vanderbilt University (BioVU) and Northwestern University (NUgene) as part of the electronic Medical Records & Genomics (eMERGE) network. A meta-analysis including all three study populations (n~4,000) suggests that eight SCN5A associations were significant for both QRS duration and PR interval (p<5.0E-3) with little evidence for heterogeneity across the study populations. These results suggest that published SCN5A associations replicate across different study designs in a meta-analysis and represent an important first step in utility of multiple study designs for genetic studies and the identification/characterization of genetic variants associated with ECG traits in African-descent populations.},
author = {Jeff, Janina M and Brown-Gentry, Kristin and Goodloe, Robert and Ritchie, Marylyn D and Denny, Joshua C and Kho, Abel N and Armstrong, Loren L and McClellan, Jr, Bob and Mayo, Ping and Allen, Melissa and Jin, Hailing and Gillani, Niloufar B and Schnetz-Boutaud, Nathalie and Dilks, Holli H and Basford, Melissa A and Pacheco, Jennifer A and Jarvik, Gail P and Chisholm, Rex L and Roden, Dan M and Hayes, M Geoffrey and Crawford, Dana C},
date-added = {2024-05-19 21:04:00 -0400},
date-modified = {2024-05-19 21:04:00 -0400},
doi = {10.1007/978-3-662-45523-4_76},
journal = {Evol Comput Mach Learn Data Min Bioinform},
journal-full = {Evolutionary computation, machine learning and data mining in bioinformatics. EvoBIO (Conference)},
keywords = {African Americans; NHANES; eMERGE; electrocardiographic traits; electronic medical records; epidemiology; genetic association study},
pages = {939-951},
pmc = {PMC4290789},
pmid = {25590050},
url = {https://pubmed.ncbi.nlm.nih.gov/25590050/},
pst = {ppublish},
title = {Replication of SCN5A Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies},
volume = {2014},
year = {2014},
bdsk-url-1 = {https://doi.org/10.1007/978-3-662-45523-4_76}}
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