rs7085104

This is a downstream gene 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.

schizophrenia

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 A
OR 1.10
p 1.0e-17
N 122,624
Large GWAS
multi-ancestry
Ripke S et al. “Genome-wide association analysis identifies 13 new risk loci for schizophrenia.” Nature Genetics 45(10):1150-9 (2013)
Allele A
OR 1.11
p 4.0e-13
N 32,143
Large GWAS
multi-ancestry

reticulocyte count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.02
p 4.0e-11
N 170,548
Large GWAS
European
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Research that mentions this SNP (2)

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Genetic variation in arsenic (+3 oxidation state) methyltransferase (AS3MT), arsenic metabolism and risk of basal cell carcinoma in a European population
AssociationN=1,062Karin S. Engström et al.(2015)· Environmental and Molecular Mutagenesis

A European case-control study of 529 BCC cases and 533 controls examined AS3MT genetic haplotypes and their association with arsenic metabolism and basal cell carcinoma risk. Five AS3MT haplotypes based on rs3740400, rs3740393, rs11191439, and rs1046778 were identified. The CCTC haplotype (haplotype 2) was associated with more efficient arsenic metabolism and protective effect (OR=1.0, p=0.85), while the CGCT haplotype (haplotype 4) showed higher toxic MMA levels and increased BCC risk (OR=1.1-1.4). Individuals lacking both haplotypes 1 and 2 had the highest arsenic-related BCC risk (OR=2.7, 95% CI 1.5-4.8).

Traits studied:Arsenic metabolismBasal cell carcinomaSkin lesions
PubMedDOIMetascience Observatory
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Biological monitoring and the influence of genetic polymorphism of As3MT and GSTs on distribution of urinary arsenic species in occupational exposure workers
AssociationN=201Beata Janasik et al.(2015)· International Archives of Occupational and Environmental Health

This study examined six genetic polymorphisms (As3MT Met287Thr rs11191439, As3MT 5'UTR rs7085104, As3MT rs3740393, As3MT rs3740400, GSTP1 rs1695, GSTO2 rs156697) in 149 copper mill workers and 52 controls. The As3MT rs3740400 GG homozygotes showed significantly higher percentage of inorganic arsenic (iAs) in urine (21.8±2.0% vs 16.0±2.1%, p<0.05) compared to GC+CC genotypes. GSTO2 rs156697 showed strong association with arsenic metabolite patterns. The study concluded that As3MT and GST genotypes may influence arsenic metabolism capacity.

Traits studied:Arsenic metabolismOccupational arsenic exposureUrinary arsenic species distribution
PubMedDOIMetascience 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]

View all AS3MT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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