Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE In total, our meta-analysis found that rs2200733 and rs10033464 on chromosome 4q25 (near PITX2) were associated with the risk of AF recurrence. 31169720 2019
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Our study aimed at identifying rare coding variants in PITX2 predisposing to AF. 30558760 2019
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE The minor A allele frequency of rs2595104 in PITX2 was 0.38 and 0.44 in the control group and in AF patients, respectively. 31039368 2019
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 Biomarker disease BEFREE In this study, we have developed and validated a novel human left atrial cellular model (TPA) based on the ten Tusscher-Panfilov ventricular cell model to systematically investigate how electrical remodeling induced by TBX5/PITX2 insufficiency leads to AF. 30353147 2018
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Among the 8 AF risk SNPs genotyped, only rs10033464 SNP at chromosome (chr) 4q25 (near PITX2) was significantly associated with development of AF after multiple risk factor adjustment and multiple testing (adj. odds ratio [OR] 2.27, 95% confidence interval [CI] 1.31-3.94; P = 3.3 x 10-3). 29624624 2018
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Polymorphisms in PITX2 (rs2200733) and IL6 (rs1800795) are associated with postoperative atrial fibrillation in adults but have not been studied in CHD. 29800783 2018
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Loss of the paired-like homeodomain transcription factor 2 (<i>Pitx2</i>) in cardiomyocytes predisposes mice to atrial fibrillation and compromises neonatal regenerative capacity. 30143541 2018
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Genome-wide association analysis of all-cause HF identified several suggestive loci ( P<1×10<sup>-6</sup>), the majority linked to upstream HF risk factors, ie, coronary artery disease ( CDKN2B-AS1 and MAP3K7CL) and atrial fibrillation ( PITX2). 30586722 2018
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 Biomarker disease BEFREE To potentially model aspects of AF and unravel PITX2-regulated downstream genes for drug target discovery, we here report the generation of integration-free PITX2-deficient hiPS cell lines. 28677534 2017
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 Biomarker disease BEFREE Pitx2 deficiency results in electrical and structural remodelling, and impaired repair of the heart in murine models, all of which may influence AF through divergent mechanisms. 28217939 2017
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Indeed, genetic variations of the specific PITX2 gene have been identified in patients with early-onset AF. 29034898 2017
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 Biomarker disease BEFREE Whereas large body of evidences has been provided in recent years on PITX2 downstream signaling pathways, scarce information is available on upstream pathways influencing PITX2 in the context of AF. 29194452 2017
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE In the discovery analysis, the AF risk associated with the minor rs6817105 allele (at the PITX2 locus) was greater among subjects ≤ 65 years of age than among those > 65 years (interaction p-value = 4.0 × 10<sup>-5</sup>). 28900195 2017
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 PosttranslationalModification disease BEFREE We demonstrated that AF is associated with Pitx2 promoter hypermethylation both in humans and arrhythmic aging spontaneously hypertensive rats. 28427903 2017
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 Biomarker disease BEFREE Previous studies have suggested PITX2, KCNN3 and ZFHX3 as atrial fibrillation (AF) susceptibility genes. 28381281 2017
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 AlteredExpression disease BEFREE TBX5/PITX2 interplay provides tight control of atrial rhythm effector gene expression, and perturbation of the co-regulated network caused AF susceptibility. 27582060 2016
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 AlteredExpression disease BEFREE LA PITX2 messenger ribonucleic acid (mRNA) levels were measured in 95 patients undergoing thoracoscopic AF ablation. 27765191 2016
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Such a pathway could ultimately contribute to AF susceptibility at the PITX2 locus associated with AF. 27866707 2016
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Genome-wide association studies (GWAS) have identified common variants in nine genomic regions associated with AF (KCNN3, PRRX1, PITX2, WNT8A, CAV1, C9orf3, SYNE2, HCN4 and ZFHX3 genes); however, the genetic variability of these risk variants does not explain the entire genetic susceptibility to AF. 25391453 2015
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Our data suggest that de-regulation of both PITX2 and ENPEP could contribute to an increased risk of atrial fibrillation in carriers of disease-associated variants, and show the challenges that we face in the functional analysis of genome-wide disease associations. 25888893 2015
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 AlteredExpression disease BEFREE Genetic variants associated with risk of atrial fibrillation regulate expression of PITX2, CAV1, MYOZ1, C9orf3 and FANCC. 26073630 2015
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE In dementia patients, there was an association between the PITX2 loci and AF (rs2634073: odds ratio [OR] = 2.11; P = 0.025 and rs2200733: OR = 2.27; P = 0.029). 25494715 2015
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.500 GeneticVariation disease BEFREE Common single nucleotide polymorphisms (SNPs) at chromosomes 4q25 (rs2200733, rs10033464 near PITX2), 1q21 (rs13376333 in KCNN3), and 16q22 (rs7193343 in ZFHX3) have consistently been associated with the risk of atrial fibrillation (AF). 25684755 2015