rs6805251

This variant is located in the GSK3B gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

high density lipoprotein cholesterol measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele T
OR —
β 0.020
p 1.0e-8
N 94,595
Large GWAS
European
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele T
OR 0.02
p 4.0e-8
N 222,097
Large GWAS
multi-ancestry
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Research that mentions this SNP (3)

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Influence of neurexin 1 (NRXN1) polymorphisms in clozapine response
ReviewRenan P. Souza et al.(2010)· Human Psychopharmacology: Clinical and Experimental

This systematic review of 98 studies examined biological predictors of clozapine response in treatment-resistant schizophrenia patients. Of 379 different gene variants investigated across 70 genetic studies, only three variants (DRD3 Ser9Gly rs6280, HTR2A His452Tyr, and GNB3 C825T) achieved independent replication. Non-genetic predictors included higher prefrontal cortical volumes and lower HVA:5-HIAA ratio in cerebrospinal fluid.

Traits studied:Clozapine responseSchizophreniaTreatment-resistant schizophrenia
PubMedDOIMetascience Observatory
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Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjects
ReviewRenan P. Souza et al.(2009)· Human Psychopharmacology: Clinical and Experimental

A systematic review of 98 studies investigating biological predictors of clozapine response in treatment-resistant schizophrenia. Of 70 genetic studies examining 379 variants, only three genetic variants have independently replicated findings: DRD3 Ser9Gly (rs6280), HTR2A His452Tyr, and GNB3 C825T (rs5442/rs5443). Non-genetic predictors include higher prefrontal cortical structural integrity and activity, and lower HVA:5-HIAA ratio in cerebrospinal fluid.

Traits studied:Clozapine responseSchizophreniaTreatment-resistant schizophrenia
PubMedDOIMetascience Observatory
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Association study of GSK3 gene polymorphisms with schizophrenia and clozapine response
AssociationN=420Renan P. Souza et al.(2008)· Psychopharmacology

A case-control and family-based association study examining 12 genetic markers across the GSK3β gene for association with schizophrenia and clozapine response. Three markers showed significant genotypic association with schizophrenia in the case-control sample: rs7624540 (χ² = 8.28, p = 0.016), rs4072520 (χ² = 9.94, p = 0.007), and rs6779828 (χ² = 6.83, p = 0.033). No associations were found in family-based analysis or with clozapine treatment response.

Traits studied:Clozapine responseSchizophrenia
PubMedDOIMetascience Observatory

About GSK3B

The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]

View all GSK3B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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