rs12678719

This is a intron variant variant in the ZFPM2 gene.

GWAS Catalog Trait Associations (1)

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

PR interval

Allele G
OR 0.80
p 4.0e-10
N 92,340
Meta-analysisLarge GWAS
European

Research that mentions this SNP (2)

Association of the ZFPM2 gene with antipsychotic-induced parkinsonism in schizophrenia patients
AssociationN=227Lior Greenbaum et al.(2012)· Psychopharmacology

This validation study confirms the association of ZFPM2 intronic SNP rs12678719 with antipsychotic-induced parkinsonism (AIP) in schizophrenia patients (p=0.009, OR=1.93 in whole sample; p=0.002, OR=2.85 in African Americans). The AIP-risk G allele was also associated with lower dopaminergic neuron binding in the putamen of early Parkinson's disease patients (p=0.026), suggesting ZFPM2 may affect nigrostriatal pathway integrity.

Traits studied:Antipsychotic-induced parkinsonismParkinson's diseaseSchizophrenia
Genome-wide association study of antipsychotic-induced parkinsonism severity among schizophrenia patients
AssociationN=397Ana Alkelai et al.(2009)· Psychopharmacology

A pharmacogenomic GWAS of 397 schizophrenia patients from the CATIE trial identified genetic variants associated with antipsychotic-induced parkinsonism (AIP) severity. The most significant SNP was rs12476047 (P=3.13×10⁻⁶, OR=3.21) near FIGN; candidate genes included EBF1 (rs891903, P=4.06×10⁻⁵), NOVA1 (rs8006700, rs1950420), and RAPGEF5 (rs7804311). Although no SNPs reached genome-wide significance threshold (P<4.2×10⁻⁷), the study identified promising genetic candidates for AIP susceptibility.

Traits studied:Antipsychotic-induced parkinsonismExtrapyramidal symptoms

About ZFPM2

The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]

View all ZFPM2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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