rs6943555

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This is a intron variant variant in the AUTS2 gene.

Key Literature Trait Associations

Alcohol Consumption

The AUTS2 gene (Activator of Transcription and Developmental Regulator) is expressed in the brain and involved in neurodevelopmental processes. In a GWAS of 26,316 Europeans with 21,185 replication, the minor A allele was associated with ~5.5% lower alcohol consumption at genome-wide significance. Functional validation showed genotype-specific AUTS2 expression in human prefrontal cortex and differential expression in mice bred for alcohol preference. The common T allele is associated with higher baseline alcohol consumption.

Schumann G et al. “Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.” Proceedings of the National Academy of Sciences of the United States of America 108(17):7119-7124 (2011)
Allele T
OR —
β 0.055
p 4.1e-9
Large GWAS
Evangelou E et al. “New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders.” Nature Human Behaviour 3(9):950-961 (2019)
Allele T
OR —
β 0.006 ±0.001
p 3.0e-6
N 480,842
Small GWAS
European

Body mass index

The T allele of rs6943555 is associated with higher BMI at genome-wide significance (p=2×10⁻¹⁵, beta=0.0123 SD units) in a mega-GWAS of approximately 1.1 million individuals of European ancestry (Huang et al. 2022, Nature Communications). This study identified 906 genome-wide significant BMI loci and found the broader BMI genetic architecture implicates a complex disease network spanning circulatory, metabolic, and neurological pathways. The AUTS2 locus association with BMI may reflect shared neurobiological mechanisms governing both reward sensitivity and energy intake regulation.

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele T
OR —
β 0.012 ±0.002
p 2.0e-15
N 1,122,049
Large GWAS
European
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GWAS Catalog Trait Associations (2)

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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Association of a variant in the muscarinic acetylcholine receptor 2 gene (CHRM2) with nicotine addiction
AssociationN=7,188Mobascher A. et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A genome-wide association study of 7,188 Caucasian individuals examined the genetic basis of behavioral disinhibition across five phenotypes (nicotine use, alcohol consumption, alcohol dependence, illicit drug use, and non-substance disinhibition) using 527,829 autosomal SNPs. While no variants reached genome-wide significance after multiple testing correction, rs1868152 showed association with illicit drug use (p = 4.9 × 10⁻⁸, beta = 15.68) and 13 additional SNPs showed consistent directional effects across multiple phenotypes. Biometric heritability estimates (49-70%) substantially exceeded GCTA common variant estimates (8-37%), indicating that much of the genetic architecture remains unaccounted for by common variants.

Traits studied:AggressionAlcohol consumptionAlcohol dependenceBehavioral disinhibitionConduct disorderIllicit drug useNicotine useNon-substance behavioral disinhibitionSmoking behavior
PubMedDOIMetascience Observatory

Gene information from NCBI Gene. Variant classifications from ClinVar.

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