rs3740390

This is a intron variant variant in the AS3MT gene.

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GWAS Catalog Trait Associations (2)

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

visceral adipose tissue quantity

Karlsson T et al. “Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease.” Nature Medicine 25(9):1390-1395 (2019)

Allele T

OR 0.04

p 5.0e-11

N 163,984

Large GWAS

European

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)

Allele T

OR 0.07

p 5.0e-15

N 547,261

Large GWAS

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Research that mentions this SNP (1)

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A Comprehensive Family-Based Replication Study of Schizophrenia Genes

AssociationN=28,251Karolina A. Aberg et al.(2013)· JAMA Psychiatry

This comprehensive family-based replication study tested 8,107 SNPs in 6,298 individuals (3,286 schizophrenia cases) from 1,811 nuclear families, following a meta-analysis of 18 schizophrenia GWAS studies. The study replicated major findings in TCF4 (P=2.53×10⁻¹⁰) and NOTCH4 (P=3.16×10⁻⁷), and identified novel susceptibility loci including POM121L2 (P=3.51×10⁻⁷), AS3MT (P=9.01×10⁻⁷), CNNM2 (P=6.07×10⁻⁷), and NT5C2 (P=4.09×10⁻⁷). Pathway analyses revealed significant enrichment in neuronal function (axonal guidance, neuronal systems, L1 cell adhesion) and immune system pathways (antigen processing, T-cell adhesion molecules).

Traits studied:Schizophrenia

PubMed DOI Metascience Observatory

About AS3MT

AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]