|
rs718314
|
|
Renal Cell Carcinoma
|
|
0.840 |
GeneticVariation
|
BEFREE |
The authors observed evidence of interactions between PhIP and RCC susceptibility variants in 2 genes: inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) (rs718314; multiplicative P for interaction = .03 and additive P for interaction =.002) and endothelial PAS domain-containing protein 1 (EPAS1) (rs7579899; additive P for interaction =.06).
|
26551148 |
2016 |
|
rs718314
|
|
Renal Cell Carcinoma
|
|
0.840 |
GeneticVariation
|
BEFREE |
The 12p11.23 variant rs10771279, located 77 kb from the European-ancestry RCC marker rs718314, was associated with RCC risk in the GWAS (P = 1.2 × 10(-7)) but did not replicate (P = 0.99).
|
24220910 |
2014 |
|
rs718314
|
|
Renal Cell Carcinoma
|
|
0.840 |
GeneticVariation
|
BEFREE |
A variant (rs718314) in the inositol 1,4,5-trisphosphate receptor, type 2 gene (ITPR2) was found to interact with the American/Western dietary pattern in relation to RCC risk (additive Pinteraction = 0.03).
|
25053674 |
2014 |
|
rs718314
|
|
Renal Cell Carcinoma
|
|
0.840 |
GeneticVariation
|
BEFREE |
We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10(-10) and P = 6.07 × 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380.
|
22010048 |
2012 |
|
rs7105934
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
This study provides, to our knowledge, the first evidence that r</span>s7105934 is an RCC susceptibility locus among AAs.
|
24220910 |
2014 |
|
rs7105934
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
After adjusting for patient age, gender, smoking status and body mass index the AG + AA genotypes from rs7105934 (11q13) were associated with a decreased risk of renal cell carcinoma (OR 0.50, 95% CI 0.33-0.75, p = 0.001) and the AC + CC genotypes from rs1049380 (ITPR2) were associated with an increased risk (OR 1.66, 95% CI 1.28-2.16, p <0.001).
|
23911636 |
2014 |
|
rs7105934
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
No significant association between rs7579899 or rs7105934 and RCC risk was observed.
|
22131124 |
2012 |
|
rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
The authors observed evidence of interactions between PhIP and RCC susceptibility variants in 2 genes: inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) (rs718314; multiplicative P for interaction = .03 and additive P for interaction =.002) and endothelial PAS domain-containing protein 1 (EPAS1) (rs7579899; additive P for interaction =.06).
|
26551148 |
2016 |
|
rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
No significant association between rs7579899 or rs7105934 and RCC risk was observed.
|
22131124 |
2012 |
|
rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
|
rs1049380
|
|
Renal Cell Carcinoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
After adjusting for patient age, gender, smoking status and body mass index the AG + AA genotypes from rs7105934 (11q13) were associated with a decreased risk of renal cell carcinoma (OR 0.50, 95% CI 0.33-0.75, p = 0.001) and the AC + CC genotypes from rs1049380 (ITPR2) were associated with an increased risk (OR 1.66, 95% CI 1.28-2.16, p <0.001).
|
23911636 |
2014 |
|
rs1049380
|
|
Renal Cell Carcinoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10(-10) and P = 6.07 × 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380.
|
22010048 |
2012 |
|
rs11894252
|
|
Renal Cell Carcinoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
|
rs4765623
|
|
Renal Cell Carcinoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
A recent genome-wide association study of renal cell carcinoma (RCC) in European population has identified genetic variants in the regions of 2p21 (rs7579899), 11q13.3 (rs7105934) and 12q24.31 (rs4765623) conferred susceptibility to RCC.
|
22131124 |
2012 |
|
rs10936602
|
|
Renal Cell Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10<sup>-10</sup>), 3p22.1 (rs67311347, P=2.5 × 10<sup>-8</sup>), 3q26.2 (rs10936602, P=8.8 × 10<sup>-9</sup>), 8p21.3 (rs2241261, P=5.8 × 10<sup>-9</sup>), 10q24.33-q25.1 (rs11813268, P=3.9 × 10<sup>-8</sup>), 11q22.3 (rs74911261, P=2.1 × 10<sup>-10</sup>) and 14q24.2 (rs4903064, P=2.2 × 10<sup>-24</sup>).
|
28598434 |
2017 |
|
rs11813268
|
|
Renal Cell Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10<sup>-10</sup>), 3p22.1 (rs67311347, P=2.5 × 10<sup>-8</sup>), 3q26.2 (rs10936602, P=8.8 × 10<sup>-9</sup>), 8p21.3 (rs2241261, P=5.8 × 10<sup>-9</sup>), 10q24.33-q25.1 (rs11813268, P=3.9 × 10<sup>-8</sup>), 11q22.3 (rs74911261, P=2.1 × 10<sup>-10</sup>) and 14q24.2 (rs4903064, P=2.2 × 10<sup>-24</sup>).
|
28598434 |
2017 |
|
rs2241261
|
|
Renal Cell Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10<sup>-10</sup>), 3p22.1 (rs67311347, P=2.5 × 10<sup>-8</sup>), 3q26.2 (rs10936602, P=8.8 × 10<sup>-9</sup>), 8p21.3 (rs2241261, P=5.8 × 10<sup>-9</sup>), 10q24.33-q25.1 (rs11813268, P=3.9 × 10<sup>-8</sup>), 11q22.3 (rs74911261, P=2.1 × 10<sup>-10</sup>) and 14q24.2 (rs4903064, P=2.2 × 10<sup>-24</sup>).
|
28598434 |
2017 |
|
rs4381241
|
|
Renal Cell Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10<sup>-10</sup>), 3p22.1 (rs67311347, P=2.5 × 10<sup>-8</sup>), 3q26.2 (rs10936602, P=8.8 × 10<sup>-9</sup>), 8p21.3 (rs2241261, P=5.8 × 10<sup>-9</sup>), 10q24.33-q25.1 (rs11813268, P=3.9 × 10<sup>-8</sup>), 11q22.3 (rs74911261, P=2.1 × 10<sup>-10</sup>) and 14q24.2 (rs4903064, P=2.2 × 10<sup>-24</sup>).
|
28598434 |
2017 |
|
rs4903064
|
|
Renal Cell Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10<sup>-10</sup>), 3p22.1 (rs67311347, P=2.5 × 10<sup>-8</sup>), 3q26.2 (rs10936602, P=8.8 × 10<sup>-9</sup>), 8p21.3 (rs2241261, P=5.8 × 10<sup>-9</sup>), 10q24.33-q25.1 (rs11813268, P=3.9 × 10<sup>-8</sup>), 11q22.3 (rs74911261, P=2.1 × 10<sup>-10</sup>) and 14q24.2 (rs4903064, P=2.2 × 10<sup>-24</sup>).
|
28598434 |
2017 |
|
rs67311347
|
|
Renal Cell Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10<sup>-10</sup>), 3p22.1 (rs67311347, P=2.5 × 10<sup>-8</sup>), 3q26.2 (rs10936602, P=8.8 × 10<sup>-9</sup>), 8p21.3 (rs2241261, P=5.8 × 10<sup>-9</sup>), 10q24.33-q25.1 (rs11813268, P=3.9 × 10<sup>-8</sup>), 11q22.3 (rs74911261, P=2.1 × 10<sup>-10</sup>) and 14q24.2 (rs4903064, P=2.2 × 10<sup>-24</sup>).
|
28598434 |
2017 |
|
rs74911261
|
|
Renal Cell Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10<sup>-10</sup>), 3p22.1 (rs67311347, P=2.5 × 10<sup>-8</sup>), 3q26.2 (rs10936602, P=8.8 × 10<sup>-9</sup>), 8p21.3 (rs2241261, P=5.8 × 10<sup>-9</sup>), 10q24.33-q25.1 (rs11813268, P=3.9 × 10<sup>-8</sup>), 11q22.3 (rs74911261, P=2.1 × 10<sup>-10</sup>) and 14q24.2 (rs4903064, P=2.2 × 10<sup>-24</sup>).
|
28598434 |
2017 |
|
rs149617956
|
|
Renal Cell Carcinoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
Finally, we found the known E318K-substitution in MITF in a RCC-affected member of a family with multiple melanomas.No variants were detected in CDKN2B.
|
31034483 |
2019 |
|
rs149617956
|
|
Renal Cell Carcinoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
The gene MITF variant p.E318K also predisposes to melanoma and renal cell carcinoma.
|
26650189 |
2016 |
|
rs149617956
|
|
Renal Cell Carcinoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
The MITF p.E318K mutation does not appear to play a major role in sporadic RCC carcinogenesis, but is possibly restricted to a rare subpopulation of inherited RCC.
|
26999813 |
2016 |
|
rs149617956
|
|
Renal Cell Carcinoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
A French and an Australian study have recently identified a rare germline functional variant in the microphthalmia-associated transcription factor (MITF) (E318K) that predisposes to familial and sporadic melanoma and to renal cell carcinoma (RCC), showing a new link between two tumour types with different risk factors and between deregulated sumoylation and cancer.
|
23167872 |
2013 |