Gene: ITIH3
Alternate names for this Gene: H3P|ITI-HC3|SHAP
Gene Summary: 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.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.1
Description of this Gene: inter-alpha-trypsin inhibitor heavy chain 3
Type of Gene: protein-coding
rs115714636 in
ITIH3 gene and
Alcohol consumption
PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
rs4687552 in
ITIH3 gene and
Anxiety
PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
rs2535629 in
ITIH3 gene and
Attention deficit hyperactivity disorder
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
rs2535629 in
ITIH3 gene and
Bipolar Disorder
PMID 30626913 2019 Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression.
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
PMID 23070075 2013 Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample.
rs138014257 in
ITIH3 gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.
rs2240920 in
ITIH3 gene and
Body mass index
PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
rs2535629 in
ITIH3 gene and
Child Development Disorders, Pervasive
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
rs2535629 in
ITIH3 gene and
Major Depressive Disorder
PMID 22472876 2013 In the MDD-bipolar cross-disorder analysis, 15 SNPs exceeded genome-wide significance (P<5 × 10(-8)), and all were in a 248 kb interval of high LD on 3p21.1 (chr3:52 425 083-53 822 102, minimum P=5.9 × 10(-9) at rs2535629).
PMID 30626913 2019 Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression.
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
rs2286797 in
ITIH3 gene and
Myocardial Infarction
PMID 17211523 2007 A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.
rs3617 in
ITIH3 gene and
Red Blood Cell Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs2535629 in
ITIH3 gene and
Schizophrenia
PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
PMID 30626913 2019 Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression.
PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
PMID 23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.