TY - GEN
T1 - Replication of SCN5A associations with electrocardiographic traits in African Americans from clinical and epidemiologic studies
AU - Jeff, Janina M.
AU - Brown-Gentry, Kristin
AU - Goodloe, Robert
AU - Ritchie, Marylyn D.
AU - Denny, Joshua C.
AU - Kho, Abel N.
AU - Armstrong, Loren L.
AU - McClellan, Bob
AU - Mayo, Ping
AU - Allen, Melissa
AU - Jin, Hailing
AU - Gillani, Niloufar B.
AU - Schnetz-Boutaud, Nathalie
AU - Dilks, Holli H.
AU - Basford, Melissa A.
AU - Pacheco, Jennifer A.
AU - Jarvik, Gail P.
AU - Chisholm, Rex L.
AU - Roden, Dan M.
AU - Geoffrey Haye, M.
AU - Crawford, Dana C.
N1 - Publisher Copyright:
© Springer-Verlag Berlin Heidelberg 2014.
PY - 2014
Y1 - 2014
N2 - 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 metaanalysis 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 Africandescent populations.
AB - 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 metaanalysis 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 Africandescent populations.
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U2 - 10.1007/978-3-662-45523-4_76
DO - 10.1007/978-3-662-45523-4_76
M3 - Conference contribution
C2 - 25590050
AN - SCOPUS:84915745250
T3 - Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
SP - 939
EP - 951
BT - Applications of Evolutionary Computation - 17th European Conference, EvoApplications 2014, Revised Selected Papers
A2 - Esparcia-Alcázar, Anna I.
PB - Springer Verlag
T2 - 17th European Conference on Applications of Evolutionary Computation, EvoApplications 2014
Y2 - 23 April 2014 through 25 April 2014
ER -