title: Genome-Wide Association Study of Copy Number Variations in Patients with Familial Neurocardiogenic Syncope.
abstract: Neurocardiogenic syncope (NCS) is the most frequent type of syncope characterized by a self-limited episode of systemic hypotension. In this study, we conducted the first genome-wide association study testing copy number variations for association with NCS. Study population consisted of 107 consecutive patients with recurrent syncope and positive head-up tilt table testing. Four families with NCS were selected for CNV analysis. Affymetrix GeneChip(®) SNP 6.0 array was used for CNV analysis. Data and statistical analysis were performed with Affymetrix genotyping console 4.0 and GraphPad Prism v6. Positive family history of NCS was present in 19.6 % (n = 21) in our study population (n = 107). Twenty-six CNV regions were found to be significantly altered in families with NCS (P < 0.05). Several CNVs were identified in families with NCS. Further studies comprising wider study population are required to determine the effect of these variations on NCS development.
authors.affiliation: Department of Cardiology, Ege University School of Medicine, 35100, Izmir, Turkey.
authors.forename: Emre
authors.initials: E
authors.lastname: Demir
authors.affiliation: Department of Cardiology, Ege University School of Medicine, 35100, Izmir, Turkey.
authors.forename: Can
authors.initials: C
authors.lastname: Hasdemir
authors.affiliation: Department of Medical Biochemistry, Ege University School of Medicine, Bornova, 35100, Izmir, Turkey.
authors.forename: Handan
authors.initials: H
authors.lastname: Ak
authors.affiliation: Department of Medical Biochemistry, Ege University School of Medicine, Bornova, 35100, Izmir, Turkey.
authors.forename: Sevcan
authors.initials: S
authors.lastname: Atay
authors.affiliation: Department of Medical Biochemistry, Ege University School of Medicine, Bornova, 35100, Izmir, Turkey. hhakan.aydin@gmail.com.
authors.forename: Hikmet Hakan
authors.initials: HH
authors.lastname: Aydin
mesh_terms: D000293:Adolescent; D000328:Adult; D056915:DNA Copy Number Variations; D005260:Female; D055106:Genome-Wide Association Study / Q000379:methods*; D005838:Genotype; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D019462:Syncope, Vasovagal / Q000235:genetics*; D055815:Young Adult
keywords: Copy number variations; Genome-wide association study; Neurocardiogenic syncope; Vasovagal syncope