Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE A single-nucleotide polymorphism (rs2274223: A5780G:His1927Arg) in the phospholipase C epsilon gene (PLCϵ) was recently identified as a susceptibility locus for esophageal cancer in Chinese subjects. 23390063

2013

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE Results showed that the minor alleles of rs3765524, rs2274223, and rs10509670 were associated with increased risk of EC and GC. 30931333

2019

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE This meta-analysis showed there was a significantly association between PLCE1 rs2274223 polymorphism and esophageal cancer in yellow race populations. 25422186

2014

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE Eight single nucleotide polymorphisms (SNPs), rs465498, rs17728461, rs4488809, rs753955, rs13361707, rs9841504, rs2274223, and rs13042395, were reported by genome wide association studies (GWASs) to be closely related to the susceptibility of lung cancer (LC), gastric cancer (GC) or esophageal cancer (EC) in Han population from northern or southern China. 26176862

2015

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE However, three genome-wide association studies of esophageal cancer have identified a shared susceptibility locus at 10q23 (rs2274223: A5780G) in phospholipase C epsilon 1 (PLCE1). 24127316

2014

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE The PLCE1 rs2274223 polymorphism has a relationship with family history of esophageal cancer, but does not have any significant association with age, gender, smoking, alcohol drinking, food hygiene, eating habits, living around the environment and occupation in cases. 25854357

2015

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE Gene-environment interaction analysis presented a best model consisted of four factors (rs2274223, rs2274224, family history, and smoking) with testing balance accuracy (TBA): 0.66 and cross validation consistency (CVC): 7/10, which could increase the esophageal cancer risk in the "high risk group" with 3.67-fold (OR: 3.67, 95% CI: 2.74-4.92), compared to the "low risk group". 23688607

2013

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE Pooled analyses suggested that PLCE1 rs2274223 variant was significantly correlated with the likelihood of esophageal cancer (dominant model: p < 0.001, OR = 0.77, 95% CI 0.72-0.83; recessive model: p < 0.001, OR = 1.28, 95% CI 1.12-1.45; additive model: p < 0.001, OR = 1.20, 95% CI 1.11-1.29; allele model: p < 0.001, OR = 0.80, 95% CI 0.74-0.88) and gastric cancer (recessive model: p = 0.001, OR = 1.27, 95% CI 1.10-1.47; allele model: p = 0.03, OR = 0.88, 95% CI 0.78-0.98) in overall population. 30784231

2019

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE Stratified analyses indicated a significantly increased risk of eso</span>pha</span>geal cancer associated with the PLCE1 rs2274223</span> AG genotype was more evident among females, younger patients and never drinkers, compared with the PLCE1 r</span>s2274223 AA genotypes. 22744421

2012

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE This meta-analysis provides strong statistical evidence for an elevated risk of EC associated with PLCE1 rs2274223. 24737582

2014

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation GWASDB Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies. 22323360

2012

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms and esophageal cancer risk in the Kashmir Valley. 24935391

2014

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE Results of subgroup analysis showed that the rs2274223 polymorphism was associated with higher risk for esophageal cancer and gastric cancer relative to colorectal cancer and head and neck cancer. 30619753

2018

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation BEFREE In additional, five variants on five genes were rated as strong cumulative epidemiological evidence for a nominally significant association with EC and ESCC risk, including CYP1A1 rs1048943, EGF rs444903, HOTAIR rs920778, MMP2 rs243865, and PLCE1 rs2274223, 10 variants were rated as moderate, and 18 variants were rated as weak. 30793520

2019

dbSNP: rs2274223
rs2274223
0.900 GeneticVariation GWASDB Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. 20729853

2010

dbSNP: rs671
rs671
0.880 GeneticVariation BEFREE Our results indicated that the ALDH2 Glu504Lys polymorphism is a susceptible loci associated with overall cancers, especially esophageal cancer and among Japanese population. 25680115

2015

dbSNP: rs671
rs671
0.880 GeneticVariation BEFREE This meta-analysis concluded that there was a strong association between ALDH2 Glu487Lys</span> polymorphism and the risk of esophageal cancer. 28422823

2017

dbSNP: rs671
rs671
0.880 GeneticVariation GWASDB Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles. 20833657

2010

dbSNP: rs671
rs671
0.880 GeneticVariation BEFREE To assess the actual influence of ADH2 Arg47His, ALDH2 Glu487Lys and CYP2E1 variant c2 allele polymorphisms on esophageal cancer risk with conjunction with alcoholic consumption, the present 1:3 matched case-control study was conducted. 16235983

2005

dbSNP: rs671
rs671
0.880 GeneticVariation BEFREE However, the results remain inconclusive.We conducted a comprehensive meta-analysis including 63 articles with 66 studies containing 25,682 cases and 47,455 controls retrieved by searching PubMed and Embase electronic databases up to March 5, 2018.Pooled results indicated that ALDH2 gene rs671 polymorphism was significantly associated with the overall cancer risk in Asians (homozygous model: odds ratio [OR] = 0.85, 95% confidence interval [CI] = 0.72-0.99, P = .042; heterozygous model: OR = 1.32, 95% CI = 1.14-1.52, P  < .001; recessive model: OR = 0.73, 95% CI = 0.60-0.88, P = .001; dominant model: OR = 1.32, 95% CI = 1.16-1.51, P < .001; and allele comparison model: OR = 1.11, 95% CI = 1.03-1.19, P = .004), especially in esophageal cancer and among the Chinese and the Japanese.Our results suggest that ALDH2 rs671 polymorphism is associated with the overall cancer risk in Asians. 30921184

2019

dbSNP: rs671
rs671
0.880 GeneticVariation BEFREE In conclusion, our findings indicated that ADH1B (rs1229984) was associated with EC independent of alcohol drinking and tobacco smoking status and alcohol drinking interacted with ALDH2 (rs671) on EC susceptibility in this high-risk Chinese population. 22930414

2013

dbSNP: rs671
rs671
0.880 GeneticVariation BEFREE This study aims to investigate the relationship between ALDH2 rs671 and c12orf30 rs4767364 polymorphisms in the chromosome 12q24 gene, and risk and prognosis of individuals developing esophageal cancer (ESCC) in Xinjiang Kazak and Han populations. 28464297

2018

dbSNP: rs671
rs671
0.880 GeneticVariation BEFREE Its encoding gene ALDH2 has a functional polymorphism: ALDH2 Glu487LYS: An association between this polymorphism and esophageal cancer among alcoholics has been reported. 11375898

2001

dbSNP: rs671
rs671
0.880 GeneticVariation BEFREE Among male daily consumers, the HRs (95% CIs) for EC associated with 15g/d of alcohol were 1.28 (1.15, 1.44) for "soon" response [vs. other responses: 1.12 (1.09, 1.15); p<sub>interaction</sub>  = 0.047; n = 36,401, 425 EC cases] and 1.41 (1.08, 1.82) for rs671 GA [vs. GG: 1.16 (1.06, 1.27); p<sub>interaction</sub>  = 0.493; n = 6,607, 80 EC cases]. 29707772

2018

dbSNP: rs1229984
rs1229984
0.840 GeneticVariation BEFREE Our results suggested that ADH1B gene Arg47His variant was associated with the decreased esophageal cancer risk. 27450204

2016