rs724710
This is a synonymous variant in the BCL2L11 gene — it does not change the protein's amino acid sequence.
▶Research that mentions this SNP (2)
▶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.
About BCL2L11
The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]
View all BCL2L11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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