rs4645978
This variant is located in the CASP9 gene.
▶Research that mentions this SNP (3)
▶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-CHOPAssociationN=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.
▶TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatinAssociationN=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.
▶Caspase polymorphisms and genetic susceptibility to multiple myelomaAssociationN=644Hosgood HD 3rd et al.(2008)· Hematological Oncology
A population-based case-control study of 128 multiple myeloma cases and 516 controls examined five SNPs in four caspase genes (CASP3, CASP8, CASP9, CASP10). CASP3 Ex8+567 T>C (rs1049216) CC genotype showed a five-fold decreased risk (OR=0.2, 95% CI=0.0-1.0). CASP9 Ex5+32 G>A (rs1052576) AG and AA genotypes were significantly protective (OR AG=0.8, OR AA=0.5, p-trend=0.02). These findings suggest genetic variation in caspase genes may play a role in multiple myeloma susceptibility.
About CASP9
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. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
View all CASP9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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