rs121908389
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121908390
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121908389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.
|
14632188 |
2003 |
rs121908389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China.
|
16307661 |
2005 |
rs121908389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
|
16922728 |
2006 |
rs12268840
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous carriers of MGMT rs12268840 with frequent acid reflux had significantly higher risks of EAC (OR 15.5, 95% CI 5.8-42) than expected under an additive model, consistent with biological interaction (S = 3.3, 95% CI 1.1-10).
|
18386788 |
2008 |
rs12269324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
rs12917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
rs13181
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No associations with EAC or EGJAC were observed with XPD (rs13181).
|
18386788 |
2008 |
rs2308321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Potential biological interaction was assessed through the synergy index S. Each MGMT SNP conferred increased risks of EAC but not EGJAC; strongest associations were found for the 2 variant MGMT alleles rs12268840 and I143V (p = 0.005 and p < 0.001, respectively).
|
18386788 |
2008 |
rs2308327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
rs25487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
rs759412116
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
rs1501299
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5'-untranslated region), PPARgamma (H447H), and GHRL (M72L)], effect sizes were modest and none of the associations was significant after correcting for multiple comparisons.
|
18398047 |
2008 |
rs696217
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5'-untranslated region), PPARgamma (H447H), and GHRL (M72L)], effect sizes were modest and none of the associations was significant after correcting for multiple comparisons.
|
18398047 |
2008 |
rs1695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our review identified GSTP1(Ile105Val) as a possible risk factor for BE and EAC in Caucasian males.
|
19222528 |
2009 |
rs6898743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GH receptor SNP rs6898743 was associated with EAC (adjusted P = .0112).
|
20403354 |
2010 |
rs2279744
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, in a multivariate analysis, patients with EAC carrying the heterozygous MDM2 (rs2279744) T/G genotype had significantly improved DFS compared with patients carrying the wild-type genotype (adjusted hazard ratio (AHR), 0.63; 95% confidence interval (CI) [0.45-0.88]).
|
20922573 |
2011 |
rs5030625
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with EAC harboring the homozygous CDH1 (rs5030625) GA/GA genotype had a significantly reduced survival as compared with patients carrying the wild-type genotype AHR 4.0, 95% CI [1.4-11].
|
20922573 |
2011 |
rs917997
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data show a strong association of the IL-18RAP SNP rs917997 locus with BE and EAC and suggestive association of the Barrett's population with the IL-18-607 C/A promoter polymorphism.
|
22664470 |
2012 |
rs2305764
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNA from 886 Caucasian participants (198 non-reflux controls, 305 RE, 254 BE, 129 EAC) was collected for the determination of the Myo9B gene polymorphism (rs2305764).
|
22954106 |
2012 |
rs2274223
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223 and RFT2 13042395 SNPs play a role in EAC or ESCC susceptibility in Dutch Caucasians.
|
23222411 |
2013 |
rs9257809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, this study provides evidence that MHC rs9257809 and FOXF1 rs9936833 variants, associated with Barrett's esophagus, also increase ESCC and EAC susceptibility in Caucasians.
|
23504527 |
2013 |
rs9936833
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, this study provides evidence that MHC rs9257809 and FOXF1 rs9936833 variants, associated with Barrett's esophagus, also increase ESCC and EAC susceptibility in Caucasians.
|
23504527 |
2013 |
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found that the MTHFR A1298C polymorphism might influence risk ofESCC and EAC in the overall studies.
|
23679298 |
2013 |