rs2284082
This is a regulatory region variant variant in the SREBF2 gene.
▶Research that mentions this SNP (1)
▶Comprehensive analyses of DNA repair pathways, smoking and bladder cancer risk in Los Angeles and ShanghaiAssociationN=1,992Roman Corral et al.(2014)· International Journal of Cancer
A case-control study of 988 bladder cancer cases and 1,004 controls from Los Angeles and Shanghai examined 632 tagSNPs in 28 DNA repair genes across four pathways. Key findings include associations between POLB rs7832529 (OR=1.5, p=0.003) and bladder cancer risk among Chinese, XPC SNPs (rs2607734, rs2279017, rs2228001) among Chinese males, and OGG1 SNPs among Chinese females. XRCC6 rs2284082 showed significant interaction with smoking (p=0.001).
About SREBF2
This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
View all SREBF2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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