title: Mutational analysis of the PITX2 and NKX2-5 genes in patients with idiopathic atrial fibrillation.
abstract: Atrial fibrillation (AF) is the most frequently encountered arrhythmia in clinical practice. In a subgroup of patients, AF is regarded as idiopathic when no signs of structural heart disease or other causes of the arrhythmia can be identified during conventional clinical work-up. Recent studies have demonstrated that AF has a substantial genetic basis in a number of cases. The entire coding sequences, including intron-exon boundaries, of the genes PITX2 and NKX2-5 were screened for genetic variants by means of initial polymerase chain reaction followed by DNA sequencing in 96 patients with idiopathic AF. Although we detected a number of variants, our candidate gene approach did not result in identification of mutations associated with AF in the coding regions of PITX2 or NKX2-5 in our well characterized AF cohort.
authors.affiliation: Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Department of Cardiology, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address: leif-hendrik.boldt@charite.de.
authors.forename: Leif-Hendrik
authors.initials: LH
authors.lastname: Boldt
authors.affiliation: Charité-Universitätsmedizin Berlin, Experimental and Clinical Research Center (ECRC), Lindenberger Weg 80, 13125 Berlin, Germany.
authors.forename: Maximilian G
authors.initials: MG
authors.lastname: Posch
authors.affiliation: Charité-Universitätsmedizin Berlin, Experimental and Clinical Research Center (ECRC), Lindenberger Weg 80, 13125 Berlin, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Perrot
authors.affiliation: Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Department of Cardiology, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Polotzki
authors.affiliation: Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Department of Cardiology, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Sascha
authors.initials: S
authors.lastname: Rolf
authors.affiliation: Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Department of Cardiology, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Abdul S
authors.initials: AS
authors.lastname: Parwani
authors.affiliation: Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Department of Cardiology, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Huemer
authors.affiliation: Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Department of Cardiology, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Wutzler
authors.affiliation: Charité-Universitätsmedizin Berlin, Experimental and Clinical Research Center (ECRC), Lindenberger Weg 80, 13125 Berlin, Germany.
authors.forename: Cemil
authors.initials: C
authors.lastname: Özcelik
authors.affiliation: Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Department of Cardiology, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Haverkamp
mesh_terms: D000368:Aged; D001281:Atrial Fibrillation / Q000175:diagnosis / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D014157:Transcription Factors / Q000235:genetics*; D000097577:Homeobox Protein PITX2
chemical_list: D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C095552:NKX2-5 protein, human