rs2514218

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (6)

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

schizophrenia

Yao X et al. “Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.” Translational Psychiatry 11(1):69 (2021)

Allele T

OR 0.08

p 1.0e-11

N 77,096

Large GWAS

European

Goes FS et al. “Genome-wide association study of schizophrenia in Ashkenazi Jews.” American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics 168(8):649-59 (2015)

Allele T

OR 1.08

p 2.0e-10

N 151,161

Large GWAS

Other

Ikeda M et al. “Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.” Schizophrenia Bulletin 45(4):824-834 (2019)

Allele T

OR 1.07

p 5.0e-10

N 122,624

Large GWAS

multi-ancestry

Li Z et al. “Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.” Nature Genetics 49(11):1576-1583 (2017)

Allele T

OR 1.08

p 5.0e-11

N 108,341

Large GWAS

multi-ancestry

“Biological insights from 108 schizophrenia-associated genetic loci.” Nature 511(7510):421-7 (2014)

Allele T

OR 1.08

p 3.0e-11

N 83,550

Large GWAS

multi-ancestry

bipolar disorder

Yao X et al. “Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.” Translational Psychiatry 11(1):69 (2021)

Allele T

OR 0.07

p 2.0e-10

N 51,710

Large GWAS

European

bipolar disorder, major depressive disorder

Coleman JRI et al. “The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls.” Biological Psychiatry 88(2):169-184 (2020)

Allele C

OR 1.03

p 3.0e-10

N 625,026

Large GWAS

European

attention deficit hyperactivity disorder, bipolar disorder, autism spectrum disorder, schizophrenia, major depressive disorder

Yao X et al. “Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.” Translational Psychiatry 11(1):69 (2021)

Allele T

OR 6.07

p 1.0e-9

N 728,648

Large GWAS

European

suicidal ideation, suicide behaviour

Kimbrel NA et al. “Identification of Novel, Replicable Genetic Risk Loci for Suicidal Thoughts and Behaviors Among US Military Veterans.” Jama Psychiatry 80(2):135-145 (2023)

Allele T

OR —

p 2.0e-8

N 452,767

Large GWAS

European

alcohol consumption quality

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)

Allele T

OR 0.01

p 1.0e-16

N 2,965,643

Large GWAS

European, East Asian, Hispanic or Latin American, African unspecified

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Research that mentions this SNP (3)

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Common variants in QPCT gene confer risk of schizophrenia in the Han Chinese population

MethodsRaja Amjad Waheed Khan et al.(2016)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This paper presents CalPen, a web-based tool for calculating penetrance (disease likelihood given a mutation) in complex genetic disorders. The authors validated CalPen against published penetrance calculations for schizophrenia-associated copy number variants (CNVs) and single nucleotide polymorphisms (SNPs). They analyzed 15 CNVs in 39,059 schizophrenia patients and 55,084 controls (average penetrance 7%, ranging from ~1.4% for 15q11.2 deletions to ~20% for 22q11.21 CNVs) and 145 SNPs in 45,405 patients and 122,761 controls (average penetrance 0.7%, with rs1801028 showing the highest at 1.6%).

Traits studied:Schizophrenia

PubMed DOI Metascience Observatory

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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

PubMed DOI Metascience 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

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs2514218

GWAS Catalog Trait Associations (6)

schizophrenia

bipolar disorder

bipolar disorder, major depressive disorder

attention deficit hyperactivity disorder, bipolar disorder, autism spectrum disorder, schizophrenia, major depressive disorder

suicidal ideation, suicide behaviour

alcohol consumption quality

Research that mentions this SNP (3)

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