Role of common and rare variants in SCN10A : results from the Brugada syndrome QRS locus gene discovery collaborative study

• Published in: Cardiovascular research Vol. 106; no. 3; pp. 520 - 529
• Main Authors: Behr, Elijah R., Savio-Galimberti, Eleonora, Barc, Julien, Holst, Anders G., Petropoulou, Evmorfia, Prins, Bram P., Jabbari, Javad, Torchio, Margherita, Berthet, Myriam, Mizusawa, Yuka, Yang, Tao, Nannenberg, Eline A., Dagradi, Federica, Weeke, Peter, Bastiaenan, Rachel, Ackerman, Michael J., Haunso, Stig, Leenhardt, Antoine, Kääb, Stefan, Probst, Vincent, Redon, Richard, Sharma, Sanjay, Wilde, Arthur, Tfelt-Hansen, Jacob, Schwartz, Peter, Roden, Dan M., Bezzina, Connie R., Olesen, Morten, Darbar, Dawood, Guicheney, Pascale, Crotti, Lia, Jamshidi, Yalda
• Format: Journal Article
• Language: English
• Published: England Oxford University Press (OUP) 01.06.2015; Oxford University Press
• Series: Equipe 3 Equipe 4
• Subjects: Action Potentials; Adult; Aged; Brugada Syndrome - diagnosis; Brugada Syndrome - genetics; Brugada Syndrome - physiopathology; Case-Control Studies; Cell Line; Computational Biology; Databases, Genetic; DNA Mutational Analysis; Europe; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Heredity; Humans; Life Sciences; Male; Middle Aged; NAV1.8 Voltage-Gated Sodium Channel - genetics; NAV1.8 Voltage-Gated Sodium Channel - metabolism; Odds Ratio; Original; Pedigree; Phenotype; Polymorphism, Single Nucleotide; Risk Factors; Saudi Arabia; Transfection; United States; Saudi Arabia; United States; Europe; Genetics; SCN10A; QRS duration; Brugada syndrome; Rare variants; United States; Middle Aged; Genetic; Male; Case-Control Studies; Single Nucleotide; Saudi Arabia; Action Potentials; Databases; genetics; Transfection; DNA Mutational Analysis; Female; Odds Ratio; Cell Line; Genetic Predisposition to Disease; Genetic Association Studies; Gene Frequency; Risk Factors; Europe; Computational Biology; Heredity; Phenotype; NAV1.8 Voltage-Gated Sodium Channel; Pedigree; Aged; adult; humans; Polymorphism

Brugada syndrome (BrS) remains genetically heterogeneous and is associated with slowed cardiac conduction. We aimed to identify genetic variation in BrS cases at loci associated with QRS duration. A multi-centre study sequenced seven candidate genes (SCN10A, HAND1, PLN, CASQ2, TKT, TBX3, and TBX5) i...