|
rs13181
|
|
|
0.030 |
GeneticVariation |
BEFREE |
XPD codon 751 Lys/Gln and Gln/Gln genotypes, compared with Lys/Lys genotype, were both associated with a more than doubled risk for esophageal adenocarcinoma (OR=2.4; 95% CI=1.4-4.4; OR=2.7, 95% CI=1.3-5.9).
|
16571649 |
2006 |
|
rs17451754
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>).
|
27527254 |
2016 |
|
rs10108511
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>).
|
27527254 |
2016 |
|
rs62423175
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>).
|
27527254 |
2016 |
|
rs7852462
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>).
|
27527254 |
2016 |
|
rs9918259
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>).
|
27527254 |
2016 |
|
rs17749155
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>).
|
27527254 |
2016 |
|
rs17451754
|
|
G |
0.710 |
GeneticVariation |
GWASCAT |
We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>).
|
27527254 |
2016 |
|
rs199907548
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have detected the I49S mutation in 12% (4/33) patients with GM, 18% (5/27) with IM, 50% - with dysplasia (4/8) and in 27% (3/11) - with ADC.
|
22440936 |
2012 |
|
rs756340448
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Variant alleles in NER SNPs XPD Lys751Gln (AOR = 1.50, 95% CI 1.1-2.0), ERCC1 8092 C/A (AOR = 1.44, 95% CI 1.1-1.9), and ERCC1 118C/T (AOR = 1.42, 95% CI 1.0-1.9) were individually associated with esophageal adenocarcinoma risk.
|
18478337 |
2008 |
|
rs13181
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Variant alleles in NER SNPs XPD Lys751Gln (AOR = 1.50, 95% CI 1.1-2.0), ERCC1 8092 C/A (AOR = 1.44, 95% CI 1.1-1.9), and ERCC1 118C/T (AOR = 1.42, 95% CI 1.0-1.9) were individually associated with esophageal adenocarcinoma risk.
|
18478337 |
2008 |
|
rs1805087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using the restriction fragment length polymorphism (RFLP)-PCR, the prevalence of MTR A2756G and CBS insertion polymorphism was determined in healthy controls (n = 257) and in patients with esophageal squamous cell carcinoma (ESCC) (n = 263), Barrett's esophagus-associated esophageal adenocarcinoma (BC) (n = 89), cardiac carcinoma (CC) (n = 144), or gastric carcinoma (GC) (n = 221) from German Caucasian subjects.
|
17726616 |
2008 |
|
rs3088440
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two of the CDKN2A variants identified were also associated with reduced risk of progression from BE to EA, when assessed in a prospective cohort of 408 BE patients: rs2518720 (hazard ratio 0.57, P = 0.0095, q = 0.0285) and rs3088440 (hazard ratio 0.34, P = 0.0368, q = 0.0552).
|
25280564 |
2014 |
|
rs13396805
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three SNPs (rs12465911, rs2341926, rs13396805) at chromosome 2q23.3, near the RND3-RBM43 gene, interacted with GERD symptoms (P = 1.70×10<sup>-7</sup>, P = 1.83×10<sup>-7</sup>, and P = 3.58×10<sup>-7</sup>, respectively) to affect risk of EA.
|
29551738 |
2018 |
|
rs2341926
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three SNPs (rs12465911, rs2341926, rs13396805) at chromosome 2q23.3, near the RND3-RBM43 gene, interacted with GERD symptoms (P = 1.70×10<sup>-7</sup>, P = 1.83×10<sup>-7</sup>, and P = 3.58×10<sup>-7</sup>, respectively) to affect risk of EA.
|
29551738 |
2018 |
|
rs12465911
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Three SNPs (rs12465911, rs2341926, rs13396805) at chromosome 2q23.3, near the RND3-RBM43 gene, interacted with GERD symptoms (P = 1.70×10<sup>-7</sup>, P = 1.83×10<sup>-7</sup>, and P = 3.58×10<sup>-7</sup>, respectively) to affect risk of EA.
|
29551738 |
2018 |
|
rs4074785
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three CDKN2A polymorphisms were nominally associated (P < 0.05) with reduced risk of EA: rs2518720 C>T [intronic, odds ratio 0.90, P = 0.0121, q = 0.3059], rs3088440 G>A (3'UTR, odds ratio 0.84, P = 0.0186, q = 0.3059), and rs4074785 C>T (intronic, odds ratio 0.85, P = 0.0248, q = 0.3059).
|
25280564 |
2014 |
|
rs2518720
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three CDKN2A polymorphisms were nominally associated (P < 0.05) with reduced risk of EA: rs2518720 C>T [intronic, odds ratio 0.90, P = 0.0121, q = 0.3059], rs3088440 G>A (3'UTR, odds ratio 0.84, P = 0.0186, q = 0.3059), and rs4074785 C>T (intronic, odds ratio 0.85, P = 0.0248, q = 0.3059).
|
25280564 |
2014 |
|
rs1059536
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These TCRs mediated recognition of commercially available ovarian cancer, uterine carcinoma, and myeloma cell lines, as well as an NIH patient-derived esophageal adenocarcinoma line that endogenously expressed p53 p.R175H and HLA-A*0201.
|
30709841 |
2019 |
|
rs28934578
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These TCRs mediated recognition of commercially available ovarian cancer, uterine carcinoma, and myeloma cell lines, as well as an NIH patient-derived esophageal adenocarcinoma line that endogenously expressed p53 p.R175H and HLA-A*0201.
|
30709841 |
2019 |
|
rs768170742
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These TCRs mediated recognition of commercially available ovarian cancer, uterine carcinoma, and myeloma cell lines, as well as an NIH patient-derived esophageal adenocarcinoma line that endogenously expressed p53 p.R175H and HLA-A*0201.
|
30709841 |
2019 |
|
rs3219472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results revealed that the genotype distribution of rs3219472 differed between the case and control groups (OR=1.66,95%CI=1.11-2.48, P=0.012 ), indicating that an association may exist between MUTYH and AE.
|
24377542 |
2013 |
|
rs25487
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage.
|
15878910 |
2005 |
|
rs759412116
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage.
|
15878910 |
2005 |
|
rs9823696
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The locus identified near HTR3C and ABCC5 (rs9823696) was associated specifically with oesophageal adenocarcinoma (p=1·6 × 10<sup>-8</sup>) and was independent of Barrett's oesophagus development (p=0·45).
|
27527254 |
2016 |