Common Variants in the TBX5 Gene Associated with Atrial Fibrillation in a Chinese Han Population

• Published in: PloS one 2016-08, Vol.11 (8), p.e0160467-e0160467
• Main Authors: Zhang, Rongfeng, Tian, Xiaochen, Gao, Lianjun, Li, Huihua, Yin, Xiaomeng, Dong, Yingxue, Yang, Yanzong, Xia, Yunlong
• Format: Article
• Language: English
• Subjects: Adult; Aged; Alleles; Asian Continental Ancestry Group - genetics; Atrial fibrillation; Atrial Fibrillation - genetics; Atrial Fibrillation - pathology; Biology and Life Sciences; Cardiac arrhythmia; Cardiovascular disease; Case-Control Studies; China; Diabetes; Electrocardiography; Female; Fibrillation; Gene expression; Genetic aspects; Genetic Association Studies; Genetic Predisposition to Disease; Genomes; Genotype; Genotyping; Han (Chinese people); Health aspects; Heart; Humans; Loci; Male; Medicine and Health Sciences; Middle Aged; Mutation; Odds Ratio; Pathogenesis; Patients; People and places; Physiological aspects; Polymorphism, Single Nucleotide; Risk; Risk factors; Single-nucleotide polymorphism; T-Box Domain Proteins - genetics; TBX5 gene; Transcription factors
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0160467

PR interval variations have recently been associated with an increased risk of long-term atrial fibrillation (AF), heart block and all-cause mortality. Genome-wide association studies have linked the PR interval with several common variants in the TBX5 gene. Several variants in the TBX5 gene, including rs7312625 and rs883079, have been associated with AF. The purpose of this study was to determine the association of single-nucleotide polymorphisms (SNPs) in the TBX5 gene, rs7312625 and rs883079, with AF in Chinese Han patients. In this case-control association study, large cohorts of AF patients (n = 1132) and controls (n = 1206) were recruited from different hospitals. The genotyping was performed using a Rotor-Gene TM 6000 high-resolution melt system. Rs7312625, rs3825214 and rs883079 were analyzed. We found that SNP 3825214 was significantly associated with AF (P-obs = 0.002, odds ratio [OR] = 0.82), and lone AF (P-obs = 6.77x10-5, odds ratio [OR] = 0.71). SNP rs7312625 was significantly associated with lone AF (P-obs = 0.015, odds ratio [OR] = 1.27), although its association with AF was not significant. No significant association of SNP rs883079 with AF or lone AF was observed. Thus, we analyzed the interaction among these three loci. We demonstrated significant interaction among rs3825214, rs7312625 and rs883079. Four-locus risk alleles showed the highest odds ratio in combined rs3825214 and rs7312625 (P-obs