rs17757541
This is a intron variant variant in the BCL2 gene.
▶Research that mentions this SNP (1)
▶Fas/FasL, Bcl2 and Caspase-8 gene polymorphisms in Chinese patients with rheumatoid arthritisAssociationN=1,454Aiping Zhu et al.(2016)· Rheumatology International
This Chinese case-control study (615 RA patients, 839 controls) investigated associations between five apoptosis-related gene polymorphisms and rheumatoid arthritis susceptibility. Fas rs2234767 G/A and Bcl2 rs17757541 C/G were identified as risk factors for RA. FasL rs763110 C/T, Bcl2 rs12454712 T/C, and Caspase-8 rs1035142 G/T showed no association in the primary study. A meta-analysis including four studies (914 cases, 1128 controls) found no significant association overall for FasL rs763110 C/T with RA, but stratification analysis revealed increased risk among Caucasian patients.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…