A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a
نویسندگان
چکیده
منابع مشابه
Atrial Fibrillation Associated Chromosome 4q25 Variants Are Not Associated with PITX2c Expression in Human Adult Left Atrial Appendages
Atrial Fibrillation (AF), the most common sustained arrhythmia, has a strong genetic component, but the mechanism by which common genetic variants lead to increased AF susceptibility is unknown. Genome-wide association studies (GWAS) have identified that the single nucleotide polymorphisms (SNPs) most strongly associated with AF are located on chromosome 4q25 in an intergenic region distal to t...
متن کاملPITX2C loss-of-function mutations responsible for idiopathic atrial fibrillation
OBJECTIVE This study aimed to identify novel PITX2c mutations responsible for idiopathic atrial fibrillation. METHODS A cohort of 210 unrelated patients with idiopathic atrial fibrillation and 200 unrelated, ethnically matched healthy individuals used as controls were recruited. The whole coding exons and splice junctions of the PITX2c gene, which encodes a paired-like homeobox transcription ...
متن کاملA functional variant in NKX3.1 associated with prostate cancer susceptibility down-regulates NKX3.1 expression.
Genome-wide association studies (GWAS) identified multiple susceptible loci for prostate cancer (PC), and recent GWAS implicated that a common variant rs1512268 on chromosome 8p21 is associated with PC susceptibility, which is located at 14 kb downstream of a prostate tumor suppressor gene NKX3.1. To clarify a susceptibility gene and functional variants in this locus, we performed re-sequencing...
متن کاملPITX2c is expressed in the adult left atrium, and reducing Pitx2c expression promotes atrial fibrillation inducibility and complex changes in gene expression.
BACKGROUND Intergenic variations on chromosome 4q25, close to the PITX2 transcription factor gene, are associated with atrial fibrillation (AF). We therefore tested whether adult hearts express PITX2 and whether variation in expression affects cardiac function. METHODS AND RESULTS mRNA for PITX2 isoform c was expressed in left atria of human and mouse, with levels in right atrium and left and...
متن کاملA common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation.
BACKGROUND A common single-nucleotide polymorphism (SNP) in the promoter of the Connexin-40 (Cx40) gene GJA5 was suggested to affect Cx40 promoter activity and the risk of atrial fibrillation (AF), but the role of other common Cx40 polymorphisms is unknown. METHODS AND RESULTS Eight SNPs within the Cx40 gene region were tested for association with Cx40 levels measured in atrial tissue from 61...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2016
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2016.10.001