rs1061581

This is a synonymous variant in the HSPA1A gene — it does not change the protein's amino acid sequence.

ClinVar annotation

Association
1 submitter

Chronic obstructive pulmonary disease

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Research that mentions this SNP (2)

Investigation of an epistastic effect between a set of TAAR6 and HSP‐70 genes variations and major mood disorders
AssociationN=646Chi‐Un Pae et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This case-control study investigated epistatic interactions between trace amine receptor 6 (TAAR6) and heat shock protein 70 (HSP-70) gene variants in 187 major depressive disorder (MDD) patients, 171 bipolar disorder (BD) patients, and 288 controls using the multifactor dimensionality reduction (MDR) method. Significant gene-gene interactions were identified between TAAR6 SNPs (rs4305745, rs7452939) and HSP-70 SNPs (rs562047) that distinguished mood disorder patients from controls, with testing balancing accuracy of 0.65 for BD (P < 0.001) and 0.62 for MDD (P < 0.001).

Traits studied:Bipolar disorderMajor depressive disorder
Association analysis of heat shock protein 70 gene polymorphisms in schizophrenia
AssociationN=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).

Traits studied:Schizophrenia

About HSPA1A

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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