rs78046578

This is a intron variant variant in the NAAA gene.

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GWAS Catalog Trait Associations (1)

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

N-acylethanolamine-hydrolyzing acid amidase measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.77
p 3.0e-143
N 10,708
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic variation contributes to gene expression response in ischemic stroke: an eQTL study
AssociationN=275Hajar Amini et al.(2020)· Annals of Clinical and Translational Neurology

This eQTL study examined 137 ischemic stroke patients and 138 controls to identify SNP-gene associations affecting blood gene expression. The analysis identified 4 significant cis-eQTLs and 70 trans-eQTLs with genotype-diagnosis interactions. Key findings include rs56348411 (NRGN, p=2.10×10⁻⁸), rs78046578 (CXCL10), rs975903 (SMAD4), and rs62299879 (CD38) affecting inflammatory response genes, plus rs148791848 as a strong trans-eQTL for ANOS1 involved in neural cell adhesion.

Traits studied:Axonal migrationGene expression response to ischemic strokeInflammatory response to strokeIschemic strokeNeural cell adhesion
PubMedDOIMetascience Observatory

About NAAA

Enables DNA-binding transcription factor binding activity and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides. Involved in several processes, including N-acylethanolamine metabolic process; N-acylphosphatidylethanolamine metabolic process; and sphingosine metabolic process. Located in lysosome and membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all NAAA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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