Gene: ITIH1

Alternate names for this Gene: H1P|IATIH|IGHEP1|ITI-HC1|ITIH|SHAP

Gene Summary: This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a 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 1

Type of Gene: protein-coding

rs2710323 in ITIH1 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.

rs1042779 in ITIH1 gene and Bipolar Disorder PMID 19416921 2009 Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.

PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

PMID 28072414 2017 Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder.

PMID 24166486 2013 GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.

rs1042779 in ITIH1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2710323 in ITIH1 gene and Body mass index PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

rs2710323 in ITIH1 gene and Intelligence PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs1042779 in ITIH1 gene and Major Depressive Disorder PMID 22472876 2013 A mega-analysis of genome-wide association studies for major depressive disorder.

rs3774354 in ITIH1 gene and Osteoarthritis of hip PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

rs3774354 in ITIH1 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs143918452 in ITIH1 gene and Parkinson Disease PMID 28892059 2017 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

rs2300149 in ITIH1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs2710323 in ITIH1 gene and Schizoaffective Disorder PMID 24166486 2013 GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.

rs2710323 in ITIH1 gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 24166486 2013 GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.