rs539689
This is a synonymous variant in the HSPA1B gene — it does not change the protein's amino acid sequence.
▶Research that mentions this SNP (2)
▶Association of RANBP1 haplotype with smooth pursuit eye movement abnormalityReviewHyun Sub Cheong et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This comprehensive review examines the genomics of schizophrenia and pharmacogenomics of antipsychotic drugs, synthesizing evidence on over 200 genes associated with psychotic disorders. The authors discuss five categories of genes relevant to antipsychotic response: disease-associated genes, mechanism-of-action genes, drug metabolism genes (particularly CYP2D6, CYP2C19, CYP2C9, CYP3A4), drug transporter genes, and pleiotropic genes. The review details pharmacogenomic profiles of 20+ antipsychotic drugs and demonstrates significant ethnic and interindividual variation in drug metabolism phenotypes, with examples including CYP2D6 extensive metabolizers (55.71% of population), intermediate metabolizers (34.7%), poor metabolizers (2.28%), and ultra-rapid metabolizers (7.31%).
▶Association analysis of heat shock protein 70 gene polymorphisms in schizophreniaAssociationN=581Jung Jin Kim et al.(2008)· European Archives of Psychiatry and Clinical Neuroscience
Case-control association study of five HSP70 gene SNPs (rs2227956, rs2075799, rs1043618, rs562047, rs539689) in 294 schizophrenia patients and 287 controls. The rare rs2075799*A allele was significantly associated with schizophrenia (χ² = 8.03, P = 0.0046; OR for G/A genotype = 1.77), and a T-A haplotype of rs2227956-rs2075799 showed significantly elevated risk (OR 3.42, P = 0.005). The five-SNP T-A-C-C-G haplotype also showed strong association (OR 5.95, global P = 0.000003).
About HSPA1B
This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]
View all HSPA1B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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