rs3834129
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;CTTACT) | 1.1 | Slightly decreased risk (0.9x) of certain cancers |
| (CTTACT;CTTACT) | 0 | common/normal |
| Make rs3834129(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 201232809 |
| Gene | CASP8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3834129 |
| dbSNP (classic) | rs3834129 |
| ClinGen | rs3834129 |
| ebi | rs3834129 |
| HLI | rs3834129 |
| Exac | rs3834129 |
| Gnomad | rs3834129 |
| Varsome | rs3834129 |
| LitVar | rs3834129 |
| Map | rs3834129 |
| PheGenI | rs3834129 |
| Biobank | rs3834129 |
| 1000 genomes | rs3834129 |
| hgdp | rs3834129 |
| ensembl | rs3834129 |
| geneview | rs3834129 |
| scholar | rs3834129 |
| rs3834129 | |
| pharmgkb | rs3834129 |
| gwascentral | rs3834129 |
| openSNP | rs3834129 |
| 23andMe | rs3834129 |
| SNPshot | rs3834129 |
| SNPdbe | rs3834129 |
| MSV3d | rs3834129 |
| GWAS Ctlg | rs3834129 |
| GMAF | 0.3962 |
| Max Magnitude | 1.1 |
rs3834129 is a SNP in the CASP8 gene that is also known as the -652 6N ins/del promoter variant.
It has been linked to higher risk for multiple tumours including colorectal cancer (CRC) in Chinese populations; however, it showed no association with colorectal cancer risk in a study of 4,000 UK cases.[PMID 18362937
]
A 2012 meta-analysis found a small protective effect (i.e. slightly reduced cancer risk) associated with the rs3834129(-;CTTACT) "6N ins/del" genotype compared to the more common "6N/6N" (rs3834129(CTTACT;CTTACT)) genotype, however, there was no statistical effect noted for the "6N del/del" genotype.[PMID 23170140]
[PMID 19276244] A Six-Nucleotide Insertion-Deletion Polymorphism in the CASP8 Promoter Associated with Risk and Progression of Bladder Cancer
This page demonstrates a bug in User:SNPediaBot. It incorrectly assigned the genotype, probably because it is multiple letters. This makes a good test case.
[PMID 20564345] Caspase-8 polymorphisms and risk of gallbladder cancer in a Northern Indian population
[PMID 20652397] The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers
[PMID 21283657] Gallbladder Cancer Predisposition: A Multigenic Approach to DNA-Repair, Apoptotic and Inflammatory Pathway Genes
[PMID 21714991] Polymorphisms in the CASP8 gene and the risk of epithelial ovarian cancer
[PMID 21633787] Polymorphisms in the promoter region of the CASP8 gene are not associated with non-Hodgkin's lymphoma in Chinese patients
[PMID 22056502] Fine-mapping CASP8 risk variants in breast cancer
[PMID 22323360] Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: A meta-analysis of genome-wide association studies
[PMID 22568453] Association of CASP3 polymorphism with hematologic toxicity in advanced NSCLC patients treated with platinum-based chemotherapy
[PMID 22345985] A six-nucleotide deletion polymorphism in the casp8 promoter is associated with reduced risk of esophageal and gastric cancers in Kashmir valley
[PMID 18563783] Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma.
[PMID 19318553] A breast cancer risk haplotype in the caspase-8 gene.
[PMID 19531679] Polymorphisms and haplotypes in the caspase-3, caspase-7, and caspase-8 genes and risk for endometrial cancer: a population-based, case-control study in a Chinese population.
[PMID 19542541] Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality.
[PMID 19629679] Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis.
[PMID 22659694] Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 -652 6N ins/del promoter polymorphism (rs3834129) in breast cancer.
[PMID 23170140] CASP-8 -652 6N ins/del polymorphism and cancer risk: A literature-based systematic HuGE review and meta-analysis
[PMID 29151331] Polymorphisms of cancer-related genes and risk of multipleprimary malignancies involving colorectal cancer
