rs4687552
This variant is located in the ITIH3 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
inter-alpha-trypsin inhibitor heavy chain h4 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.19
p 1.0e-276
N 47,745
Large GWAS
European
body height
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.04
p 2.0e-34
N 607,510
Major Consortium StudyLarge GWAS
multi-ancestry
Anxiety
Nagel M et al. “Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.” Nature Genetics 50(7):920-927 (2018)
Allele C
OR 0.02
p 5.0e-11
N 348,219
Meta-analysisLarge GWAS
European
risk-taking behaviour
Karlsson Linnér R et al. “Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.” Nature Genetics 51(2):245-257 (2019)
Allele T
OR 0.02
p 2.0e-9
N 315,894
Large GWAS
European
schizophrenia
Ripke S et al. “Genome-wide association analysis identifies 13 new risk loci for schizophrenia.” Nature Genetics 45(10):1150-9 (2013)
Allele T
OR 1.09
p 1.0e-8
N 32,143
Large GWAS
multi-ancestry
About ITIH3
This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]
View all ITIH3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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