rs11591402

This variant is located in the SORCS3 gene.

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GWAS Catalog Trait Associations (2)

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

attention deficit hyperactivity disorder

Demontis D et al. “Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.” Nature Genetics 51(1):63-75 (2019)
Allele T
OR 1.05
p 4.0e-9
N 55,374
Large GWAS
multi-ancestry
LaBianca S et al. “Polygenic profiles define aspects of clinical heterogeneity in attention deficit hyperactivity disorder.” Nature Genetics 56(2):234-244 (2024)
Allele T
OR 0.90
p 2.0e-8
N 24,734
Large GWAS
European
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Research that mentions this SNP (1)

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A mendelian randomization study on causal effects of 25(OH)vitamin D levels on attention deficit/hyperactivity disorder
Meta-analysisN=133,650Lars Libuda et al.(2021)· European Journal of Nutrition

A bidirectional two-sample Mendelian randomization study examining the causal relationship between 25-hydroxyvitamin D levels and attention-deficit/hyperactivity disorder (ADHD). Using 79,366 European individuals for vitamin D GWAS data and 19,099 ADHD cases with 34,194 controls, the study found no evidence of a causal effect of vitamin D on ADHD (IVW β = -0.043, p = 0.833) or reverse causality. Although rs12785878 showed a nominal association with increased ADHD risk at higher vitamin D levels (p = 0.024), this did not survive multiple testing correction.

Traits studied:Attention-deficit/hyperactivity disorder (ADHD)Vitamin D levels (25-hydroxyvitamin D)
PubMedDOIMetascience Observatory

About SORCS3

This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]

View all SORCS3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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