rs2710323

This is a intron variant variant in the ITIH1 gene.

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GWAS Catalog Trait Associations (10)

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

osteoarthritis, hip, body mass index

Zhang L et al. “A sex- and site-specific relationship between body mass index and osteoarthritis: evidence from observational and genetic analyses.” Osteoarthritis and Cartilage 31(6):819-828 (2023)
Allele T
OR —
p 3.0e-27
N 1,160,222
Large GWAS
European

schizophrenia

Trubetskoy V et al. “Mapping genomic loci implicates genes and synaptic biology in schizophrenia.” Nature 604(7906):502-508 (2022)
Allele T
OR 1.07
p 6.0e-21
N 175,799
Large GWAS
multi-ancestry

body mass index

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.01
p 7.0e-19
N 694,649
Large GWAS
European

BMI-adjusted waist-hip ratio

Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele T
OR —
β 0.023
p 7.0e-12
N 252,375
Large GWAS
European

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 4.0e-11
N 348,219
Meta-analysisLarge GWAS
European

pulse pressure measurement

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.15
p 8.0e-10
N 526,001
Large GWAS
European

feeling nervous measurement

Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)
Allele T
OR 5.95
p 3.0e-9
N 373,121
Large GWAS
European

appendicular lean mass

Hernandez Cordero AI et al. “Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.” American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele C
OR 0.04
p 2.0e-8
N 181,862
Large GWAS
European

BMI-adjusted waist-hip ratio, physical activity measurement

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele T
OR 0.03
p 5.0e-8
N 156,653
Meta-analysisLarge GWAS
multi-ancestry

About ITIH1

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. [provided by RefSeq, Nov 2015]

View all ITIH1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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