rs2279115
This variant is located in the BCL2 gene.
▶Research that mentions this SNP (2)
▶Neuroplasticity and second messenger pathways in antidepressant efficacy: pharmacogenetic results from a prospective trial investigating treatment resistanceAssociationN=2,066Chiara Fabbri et al.(2017)· European Archives of Psychiatry and Clinical Neuroscience
A prospective pharmacogenetic study of 220 treatment-resistant depression (TRD) patients examined 50 tag SNPs in 14 neuroplasticity and second messenger pathway genes for association with antidepressant response. Key findings included replication of ZNF804A rs7603001 with venlafaxine response (OR=2.51), CREB1 rs2254137 with remission, CHL1 rs2133402 with lower TRD risk, and MAPK1 rs6928 with all phenotypes (p=0.0006 after Bonferroni). Pathway analysis in STAR*D (n=1846) identified protein processing in the endoplasmic reticulum pathway as a potential mechanism of MAPK1 involvement.
▶Impact of BCL2 polymorphisms on survival in transitional cell carcinoma of the bladderAssociationN=179Jochen Hess et al.(2017)· Journal of Cancer Research and Clinical Oncology
This study examined three BCL2 single-nucleotide polymorphisms (c.-938C>A rs2279115, c.21G>A rs1801018, and c.*2203A>G rs4987853) in 179 bladder cancer patients and found significant associations with survival outcomes. The c.-938C>A polymorphism was associated with relapse-free survival (p=0.024), while c.21G>A showed stronger associations with both relapse-free survival (p=0.009) and progression-free survival (p=0.012), demonstrating pronounced allele dose effects in both cases. The c.*2203A>G polymorphism showed no significant survival associations.
About BCL2
This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
View all BCL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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