rs611251
This is a protein-altering variant in the PPP1R15A gene.
▶Research that mentions this SNP (1)
▶Genetic variants in apoptosis‐related genes associated with colorectal hyperplasiaAssociationN=860Stefano Gerola et al.(2014)· Genes, Chromosomes and Cancer
A two-stage candidate gene association study identified genetic variants in apoptosis-related genes associated with colorectal hyperplastic polyps (HP). Stage I genotyped 1,536 SNPs in 826 apoptosis-related genes in 784 samples (272 cases, 512 controls), identifying 14 candidate SNPs with P < 0.01. Stage II validated these in 76 samples (38 cases, 38 controls). Meta-analysis with FDR correction identified 9 SNPs with combined P < 0.01 associated with HP, including rs4709583 (PARK2, q=0.003), rs10476829 (HDAC3), rs7083622 and rs11016073 (MKI67). Functional studies showed rs10476829 altered HDAC3 mRNA half-life through cryptic polyadenylation.
About PPP1R15A
This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]
View all PPP1R15A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…