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rs2294008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.4 lower risk of cancer
(T;T) 2.1 increased risk of gastric and bladder cancer
Make rs2294008(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142680513
GenePSCA
is asnp
is mentioned by
dbSNPrs2294008
ebirs2294008
HLIrs2294008
Exacrs2294008
Varsomers2294008
Maprs2294008
PheGenIrs2294008
hapmaprs2294008
1000 genomesrs2294008
hgdprs2294008
ensemblrs2294008
gopubmedrs2294008
geneviewrs2294008
scholarrs2294008
googlers2294008
pharmgkbrs2294008
gwascentralrs2294008
openSNPrs2294008
23andMers2294008
23andMe allrs2294008
SNP Nexus

SNPshotrs2294008
SNPdbers2294008
MSV3drs2294008
GWAS Ctlgrs2294008
GMAF0.432
Max Magnitude2.1
? (C;C) (C;T) (T;T) 28

[PMID 18488030] rs2976392 and diffuse-type gastric cancer (allele-specific odds ratio (OR) = 1.62, 95% CI = 1.38-1.89, P = 1.11 x 10(-9)). Substitution of the C allele with the risk allele T at a SNP in the first exon (rs2294008, which has r(2) = 0.995, D' = 0.999 with rs2976392) reduces transcriptional activity of an upstream fragment of the gene

OMIM137215
DescGASTRIC CANCER
Variant
Relatedalso
OMIM602470
DescPROSTATE STEM CELL ANTIGEN; PSCA
Variant
Relatedalso
GWAS snp
PMID [PMID 19648920OA-icon.png]
Trait Bladder cancer
Title Genetic variation in the prostate stem cell antigen gene

PSCA confers susceptibility to urinary bladder cancer

Risk Allele T
P-val 2E-10
Odds Ratio 1.15 [1.10-1.20]


[PMID 20083643] Genetic variation in PSCA and bladder cancer susceptibility in a Chinese population


[PMID 20131315] Genetic variation of PSCA gene is associated with the risk of both diffuse- and intestinal-gastric cancer in a Chinese population


[PMID 21064099] Genetic variant in PSCA predicts survival of diffuse-type gastric cancer in a Chinese population

[PMID 21070779] A functional SNP in MUC1, at chromosome 1q22, determines susceptibility to diffuse-type gastric cancer Short title: MUC1is a gastric cancer susceptibility gene

[PMID 21070776OA-icon.png] An association between a variation in the PSCA gene and upper gastrointestinal cancer in Caucasians

GWAS snp
PMID [PMID 20972438OA-icon.png]
Trait
Title A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
Risk Allele T
P-val 4E-11
Odds Ratio 1.1300 [1.09-1.17]


[PMID 21268123] Polymorphisms in prostate stem cell antigen gene rs2294008 increase gastric cancer risk in Chinese


[PMID 21681742] Prostate stem cell antigen gene is associated with diffuse and intestinal gastric cancer in Caucasians: Results from the EPIC-EURGAST Study


[PMID 22416122OA-icon.png] Common genetic variants in the PSCA gene influence gene expression and bladder cancer risk


[PMID 22481254] The PSCA polymorphisms derived from genome-wide association study are associated with risk of gastric cancer: a meta-analysis


[PMID 22387998] A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population


[PMID 22768238OA-icon.png] A MicroRNA-7 Binding Site Polymorphism in HOXB5 Leads to Differential Gene Expression in Bladder Cancer


[PMID 22824379OA-icon.png] Lack of association between the rs2294008 polymorphism in the prostate stem cell antigen gene and colorectal neoplasia: a case-control and immunohistochemical study


[PMID 19554573] Two genetic variants in prostate stem cell antigen and gastric cancer susceptibility in a Chinese population.


[PMID 19582881] Association of prostate stem cell antigen gene polymorphisms with the risk of stomach cancer in Japanese.


[PMID 20230293] Association and haplotype analysis of prostate stem cell antigen with gastric cancer in Tibetans.


[PMID 21538581] Association of a common genetic variant in prostate stem-cell antigen with gastric cancer susceptibility in a Korean population.


[PMID 22037551] A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1.


[PMID 22426141] Prostate stem cell antigen polymorphisms and susceptibility to gastric cancer: a systematic review and meta-analysis.


GET Evidence
PSCA-T1M
aa_change Thr1Met
aa_change_short T1M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.418116
summary



[PMID 23266392OA-icon.png] Genetic Variant as a Selection Marker for Anti-Prostate Stem Cell Antigen Immunotherapy of Bladder Cancer


[PMID 23330817] Evolution of the concept of androgen-sensitive bladder cancer


[PMID 23397433] Gender-specific differences in muscle-invasive bladder cancer: the concept of sex steroid sensitivity


[PMID 22938426] Case-control study of single nucleotide polymorphisms of PSCA and MUC1 genes with gastric cancer in a Chinese


[PMID 23599686OA-icon.png] Missense allele of a single nucleotide polymorphism rs2294008 attenuated antitumor effects of prostate stem cell antigen in gallbladder cancer cells


[PMID 23704932OA-icon.png] Impact of PSCA Variation on Gastric Ulcer Susceptibility


[PMID 23967685] [Possible role of genetic factors on reduced risk for gastric cancer among duodenal ulcer patients]


[PMID 23988503] PSCA Gene Variants (rs2294008 and rs2978974) Confer Increased Susceptibility of Gallbladder Carcinoma in Females


[PMID 24023815OA-icon.png] Genetic Variation in PSCA and Risk of Gastric Advanced Preneoplastic Lesions and Cancer in Relation to Helicobacter pylori Infection


[PMID 22711262] Systematic evaluation of bladder cancer risk-associated single-nucleotide polymorphisms in a Chinese population.


[PMID 23397970OA-icon.png] Interpersonal and genetic origins of adult attachment styles: a longitudinal study from infancy to early adulthood.

GWAS snp
PMID [PMID 24163127OA-icon.png]
Trait Bladder cancer
Title Genome-wide association study identifies multiple loci associated with bladder cancer risk.
Risk Allele T
P-val 3E-15
Odds Ratio 1.13 [1.10-1.16]


[PMID 25097570OA-icon.png] Association of a common genetic variant in prostate stem cell antigen with cancer risk


[PMID 25374226] Genetic Variation in PSCA is Associated with Bladder Cancer Susceptibility in a Korean Population


[PMID 25503145] PSCA and MUC1 Gene Polymorphisms Are Linked with Gastric Cancer and Pre-malignant Gastric Conditions


[PMID 25709466OA-icon.png] PSCA rs2294008 C > T polymorphism contributes to gastric and bladder cancer risk


[PMID 25721731] Association of PSCA rs2294008 gene variants with poor prognosis and increased susceptibility to gastric cancer and decreased risk of duodenal ulcer disease


[PMID 26006239OA-icon.png] The Influence of PSCA Gene Variation on Its Expression and Gastric Adenocarcinoma Susceptibility in the Northwest Chinese Population


[PMID 26320491] Common Genetic Variants of PSCA, MUC1 and PLCE1 Genes are not Associated with Colorectal Cancer


[PMID 26550251OA-icon.png] Prostate stem cell antigen variation rs2294008 associated with the risk of bladder cancer


[PMID 26554163] Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 (rs3765524, rs10509670) Genes and Their Correlation to Gastric Cancer Risk Based on Universal Tagged Arrays and Fe3O4 Magnetic Nanoparticles


[PMID 26848528] PSCA polymorphisms and gastric cancer susceptibility in an eastern Chinese population.


[PMID 26891331] Impact of DCC (rs714) and PSCA (rs2294008 and rs2976392) Gene Polymorphism in Modulating Cancer Risk in Asian Population.