rs2227310

This is a variant in the CASP7 gene that changes a aspartate to an glutamate.

ClinVar annotation

Benign★★★
2 submitters1 publication
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Research that mentions this SNP (4)

RIPK1 and CASP7 polymorphism as prognostic markers for survival in patients with colorectal cancer after complete resection
AssociationN=377Yee Soo Chae et al.(2011)· Journal of Cancer Research and Clinical Oncology

This association study of 377 Korean colorectal cancer patients examined 15 SNPs in 12 apoptosis-related genes as prognostic markers for survival after curative resection. RIPK1 rs2272990 (GA/AA genotype, HR=2.093, p=0.007) and CASP7 rs2227310 (GG genotype, HR=2.641, p=0.002) were significantly associated with worse disease-free survival in multivariate analysis, with similar associations for disease-specific survival. The polymorphisms showed stronger associations in colon cancer than rectal cancer.

Traits studied:Colorectal cancer survivalDisease-free survivalDisease-specific survivalPrognosis in colorectal cancer
Lymphotoxin alfa and receptor-interacting protein kinase 1 gene polymorphisms may correlate with prognosis in patients with diffuse large B cell lymphoma treated with R-CHOP
AssociationN=90Yee Soo Chae et al.(2010)· Cancer Chemotherapy and Pharmacology

In 90 DLBCL patients treated with R-CHOP chemotherapy, polymorphisms in apoptosis-related genes were analyzed. The AA genotype of LTA C804A (rs1041981) was associated with worse time to progression (HR = 7.92; 95% CI = 1.42-44.18; P = 0.018), as was the GG genotype of RIPK1 G83A (rs2272990) (HR = 20.02; 95% CI = 1.59-251.52; P = 0.018). These polymorphisms may serve as prognostic markers for DLBCL treated with R-CHOP.

Traits studied:Diffuse large B cell lymphoma (DLBCL)Overall survivalTime to progression with R-CHOP chemotherapy
TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin
AssociationN=57Jong Gwang Kim et al.(2009)· Cancer Chemotherapy and Pharmacology

In 57 patients with advanced gastric cancer treated with paclitaxel and cisplatin, the TP53 codon 72 polymorphism (rs1042522) was found to predict chemotherapy response and progression-free survival. Patients carrying Arg/Pro or Pro/Pro genotypes had significantly lower chemotherapy response rates (35.7% vs 66.7%, P=0.019) and worse time to progression (HR=3.056, P=0.047) compared to Arg/Arg carriers.

Traits studied:Advanced gastric cancerChemotherapy responseOverall survivalTime to progression
Prostaglandin synthase 2/cyclooxygenase 2 (PTGS2/COX2) 8473T>C polymorphism associated with prognosis for patients with colorectal cancer treated with capecitabine and oxaliplatin
AssociationN=76Jong Gwang Kim et al.(2009)· Cancer Chemotherapy and Pharmacology

This study analyzed 15 apoptosis-related gene polymorphisms in 76 patients with metastatic colorectal cancer treated with capecitabine and oxaliplatin chemotherapy. The PTGS2 8473T>C (rs5275) polymorphism was found to be significantly associated with progression-free survival (p=0.038, HR=2.19, dominant model p=0.046) and overall survival (p=0.040, dominant model p=0.013) in multivariate Cox regression analysis.

Traits studied:Colorectal cancer prognosisOverall survivalProgression-free survivalResponse to chemotherapy

About CASP7

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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