|
rs74315379
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We generated a gene-targeted knock-in murine model of the autosomal dominant Arg141Trp (R141W) mutation in Tnnt2, which was first described in a human family with DCM.
|
27936050 |
2016 |
|
rs74315380
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We generated a gene-targeted knock-in murine model of the autosomal dominant Arg141Trp (R141W) mutation in Tnnt2, which was first described in a human family with DCM.
|
27936050 |
2016 |
|
rs3729547
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These results suggest that the TPM1 (rs1071646) and TNNT2 (rs3729547) gene variants might represent risk factors for patients with DCM in the Kazakh population.
|
26400351 |
2015 |
|
rs3729843
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Alleles of two novel SNPs (c.192 + 353 C>A, OR = 0.095, 95% CI: 0.013-0.714, P = 0.022; c.192 + 463 G>A, OR = 0.090, 95% CI: 0.012-0.675, P = 0.019) and SNP rs3729843 (OR = 1.889, 95% CI: 1.252-2.852; P = 0.002) were significantly correlated with DCM.
|
25110706 |
2014 |
|
rs3729547
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the TNNT2 gene, there was a significant association between DCM and genotype for the tagging SNPs rs3729547 (χ(2) = 6.63, P = 0.036, OR = 0.650, and 95% CI = 0.453-0.934) and rs3729843 (χ(2) = 9.787, P = 0.008, OR = 1.912, and 95% CI = 1.265-2.890) in the Chinese Han population.
|
23586019 |
2013 |
|
rs3729843
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the TNNT2 gene, there was a significant association between DCM and genotype for the tagging SNPs rs3729547 (χ(2) = 6.63, P = 0.036, OR = 0.650, and 95% CI = 0.453-0.934) and rs3729843 (χ(2) = 9.787, P = 0.008, OR = 1.912, and 95% CI = 1.265-2.890) in the Chinese Han population.
|
23586019 |
2013 |
|
rs74315379
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210.
|
14654368 |
2003 |
|
rs74315380
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210.
|
14654368 |
2003 |
|
rs730881106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM.
|
26458567 |
2015 |
|
rs759758840
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM.
|
26458567 |
2015 |
|
rs778730615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM.
|
26458567 |
2015 |
|
rs730881098
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the missense mutation (Leu84Phe) and two novel SNPs (c.192 + 353 C>A, c.192 + 463 G>A) in TNNT2 gene might be associated with DCM in the Chinese population.
|
25110706 |
2014 |
|
rs984218824
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the missense mutation (Leu84Phe) and two novel SNPs (c.192 + 353 C>A, c.192 + 463 G>A) in TNNT2 gene might be associated with DCM in the Chinese population.
|
25110706 |
2014 |
|
rs1892028
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Linkage disequilibrium (LD) analysis showed that the SNPs rs7521796, rs2275862, rs3729547, rs10800775, and rs1892028, which are approximately 6 kb apart, were in high LD (D' > 0.80) in the DCM patients.
|
23586019 |
2013 |
|
rs727503512
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A c.517T C>T, Arg173Trp TNNT2 variant segregated with all affected family members and was also detected in one additional DCM family in our registry.
|
24205113 |
2013 |