rs2701108
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data show that rs3072 at GDF7 and rs2701108 at TBX5 are also associated with EAC and conclude that both loci confer disease risk also at later stages of the BE/EAC sequence.
|
26783083 |
2016 |
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 |
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 |
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 |
rs3784262
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, rs3784262 at ALDH1A2 was highly significantly associated with BE, but showed no association with EAC.
|
26783083 |
2016 |
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 |
rs121908389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
|
16922728 |
2006 |
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
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121908390
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121908388
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
|
26861065 |
2016 |
rs139429793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC.
|
24077944 |
2014 |
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 |
rs13181
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No associations with EAC or EGJAC were observed with XPD (rs13181).
|
18386788 |
2008 |
rs536105592
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found no CYLD variants but identified an FABP12 variant (rs536105592 G>A) in the patients with both MUHH and MFT.
|
30809827 |
2019 |
rs3072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data show that rs3072 at GDF7 and rs2701108 at TBX5 are also associated with EAC and conclude that both loci confer disease risk also at later stages of the BE/EAC sequence.
|
26783083 |
2016 |
rs6898743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GH receptor SNP rs6898743 was associated with EAC (adjusted P = .0112).
|
20403354 |
2010 |
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 |
rs6214
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A allele of SNP rs6214 in the IGF-I gene was associated with EAC, and with HNC in women.
|
24608110 |
2014 |
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 |
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 |
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 |