rs3741049

badMag 1.5

This is a intron variant variant in the ACAT1 gene.

Key Literature Trait Associations

Scarlet fever

A large 23andMe genome-wide association study of 23 common infections identified a nominal association between rs3741049 and scarlet fever susceptibility (beta=0.13, p=2×10⁻⁶) in over 120,000 European-ancestry individuals. The association did not reach genome-wide significance (p<5×10⁻⁸) and has not been independently replicated. The signal may reflect linkage with nearby immune-relevant loci in the 11q22.3 region, including ATM (~84 kb away), rather than a direct biological effect of the ACAT1 intronic variant.

Tian C et al. “Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.” Nature Communications 8(1):599 (2017)

Allele A

OR —

β 0.128 ±0.026

p 2.0e-6

N 120,649

Small GWAS

European

Acetyl-CoA Metabolism

The ACAT1-02 variant (rs3741049) is an intronic polymorphism in the acetyl-CoA acetyltransferase 1 gene, which plays a role in lipid metabolism and ketone body formation. The A allele has been proposed to affect ACAT1 expression, potentially influencing B12 utilization, though published evidence for clinical significance is limited.

Abdelkreem E et al. “Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.” Human Mutation (2019)

Allele A

OR —

p —

N 149

Candidate gene study

multi-ancestry

Xiang Y et al. “Light-avoidance-mediating photoreceptors tile the Drosophila larval body wall.” Nature 468(7326):921-926 (2010)

Allele A

OR —

p 3.0e-2

Candidate gene study

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Dopamine receptor D3 genotype association with greater acute positive symptom remission with olanzapine therapy in predominately caucasian patients with chronic schizophrenia or schizoaffective disorder

ReviewDavid H. Adams et al.(2008)· Human Psychopharmacology: Clinical and Experimental

Literature review of 77 publications examining the effects of genes COMT, MAO-A, MAO-B, DAT, DRD2, VMAT2, TPH2, and SNCA on Parkinson's disease neuropsychiatric symptoms and therapy response. Key polymorphisms include rs1800497 (DRD2) associated with impulse control disorders, rs6269/rs4633/rs4818/rs4680 (COMT) with cognitive decline, and rs1352250/rs6582078 (TPH2) with impulse control. The review identifies genetic predictors for early complications (cognitive decline, depression, psychosis, impulse control disorders) and therapy optimization, relevant for patient selection for deep brain stimulation.

Traits studied:Addiction/substance abuseAnxiety disorderAttention-deficit/hyperactivity disorderBipolar affective disorderCognitive declineDementiaDepressionHallucinationsImpulse control disorderLevodopa dyskinesiaLevodopa responseObsessive-compulsive disorderParkinson's diseasePsychotic disordersSchizophreniaSleep disorders

rs3741049

Key Literature Trait Associations

Scarlet fever

Acetyl-CoA Metabolism

ClinVar annotation

Research that mentions this SNP (1)

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