rs2239547

This is a regulatory region variant variant in the ITIH4 gene.

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GWAS Catalog Trait Associations (2)

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

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)

Allele T

OR 0.65

p 6.0e-131

N 3,200

Large GWAS

European

level of neprilysin in blood serum

Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)

Allele T

OR 0.64

p 1.0e-129

N 2,893

Large GWAS

European

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Research that mentions this SNP (1)

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Association analysis of ANK3 gene variants in nordic bipolar disorder and schizophrenia case–control samples

ReviewMartin Tesli et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This review comprehensively summarizes the latest genetic studies on schizophrenia, including family studies (heritability ~80%), genome-wide association studies, epigenetic mechanisms, candidate gene investigations, and next-generation sequencing findings. Key GWAS findings identified 108 schizophrenia-associated loci including variants in MIR137 (rs1625579), TCF4 (rs12966547), CSMD1 (rs10503253), CACNA1C (rs4765905), ANK3 (rs10761482), and MHC region variants, with evidence for polygenetic inheritance involving both common SNPs and rare copy number variations.

Traits studied:Auditory steady-state responseAutism spectrum disorderBipolar disorderCognitive impairmentMental retardationSchizophreniaSchizophrenia endophenotypesSchizophrenia with general psychopathologic symptomsSchizophrenia with negative symptomsSchizophrenia with positive symptomsSensory processing disorderTreatment-resistant schizophreniaUnipolar depression

PubMed DOI Metascience Observatory

About ITIH4

The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]