rs17601612

badMag 3.0

This is a intron variant variant in the DRD2 gene.

Key Literature Trait Associations

Sleep Duration

The dopamine D2 receptor (DRD2) is a central mediator of reward processing and arousal. In a multi-ethnic GWAS meta-analysis of >25,000 individuals (CARe consortium), the derived C allele of rs17601612 in DRD2 intron 1 was associated with approximately 3 minutes shorter self-reported sleep duration per allele. Conditional analysis identified a second independent DRD2 signal with opposite effects, suggesting complex dopaminergic regulation of sleep behavior.

Cade BE et al. “Common variants in DRD2 are associated with sleep duration: the CARe consortium.” Human Molecular Genetics 25(1):167-179 (2016)

Allele C

OR —

β -3.070

p 9.7e-7

Major Consortium Study

Rhodes JA et al. “Association of DAT1 genetic variants with habitual sleep duration in the UK Biobank.” Sleep (2019)

Allele C

OR —

β -0.660 ±0.180

p 1.8e-5

N 373,845

Major Consortium Study

European

Alcohol consumption

The C allele of rs17601612 in DRD2 has been associated with higher alcohol consumption in multiple GWAS analyses. In a large European-ancestry GWAS of AUDIT-C (n = 131,510), rs17601612 emerged as an independent signal after methodological refinement (removing former drinkers), with p = 2 × 10⁻¹³ in GWAS Catalog records. A smaller Spanish EPIC cohort study (n = 1,533) found significant association specifically in women with excessive drinking, consistent with sex-specific dopaminergic reward modulation. The variant's effect is modest in absolute terms, reflecting the polygenic architecture of alcohol use.

“The impact of removing former drinkers from genome-wide association studies of AUDIT-C”

Allele C

OR —

β 0.017 ±0.002

p 2.0e-13

N 131,510

Large GWAS

European

Celorrio D et al. “Influence of Dopaminergic System Genetic Variation and Lifestyle Factors on Excessive Alcohol Consumption.” Alcohol and Alcoholism (oxford, Oxfordshire) (2016)

Allele C

OR —

p —

N 1,533

Preliminary work

European

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GWAS Catalog Trait Associations (1)

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

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Research that mentions this SNP (1)

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SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families

AssociationN=364Kollins SH et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Haplotype-tagging SNP analysis in 364 individuals from 152 ADHD families identified significant associations between commission errors and SNPs in the DRD2 gene (rs2075654, rs1079596) and between reaction time variability and a SNP in the NET gene (rs3785155). These findings suggest that commission errors and reaction time variability are valid ADHD endophenotypes linked to dopaminergic and noradrenergic pathways.

Traits studied:ADHDCommission errors (Continuous Performance Task)Detectability (CPT)Hit reaction timeHit reaction time standard errorReaction time variability (Continuous Performance Task)

rs17601612

Key Literature Trait Associations

Sleep Duration

Alcohol consumption

GWAS Catalog Trait Associations (1)

Research that mentions this SNP (1)

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