rs1052576
This is a variant in the CASP9 gene that changes a glutamine to an arginine.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Bladder cancer SNP panel predicts susceptibility and survivalAssociationN=2,023Angeline S. Andrew et al.(2009)· Human Genetics
A population-based case-control study of 832 bladder cancer cases and 1,191 controls examining SNPs in cancer-regulatory pathways identified increased risk associated with MTHFD2 (OR 1.7, 95% CI 1.3-2.3), TEP1 (OR 1.8, 95% CI 1.2-2.6), and decreased risk with IL8RB (OR 0.6, 95% CI 0.5-0.9). Survival analysis found shorter survival with CASP9 variants (HR 1.8, 95% CI 1.1-3.0) and longer survival with EPHX1 variants (HR 0.4, 95% CI 0.2-0.8). Multi-SNP combinations in metabolism, DNA repair, telomerase, and apoptosis pathways were also predictive of bladder cancer risk and prognosis.
▶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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