rs2124440

This is a intron variant variant in the ITGA4 gene.

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GWAS Catalog Trait Associations (4)

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

leukocyte quantity

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 G
OR 0.05
p 2.0e-50
N 545,812
Major Consortium StudyLarge GWAS
multi-ancestry

monocyte count

Hu Y et al. “Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) study.” Bmc Genomics 22(1):432 (2021)
Allele A
OR 0.12
p 9.0e-26
N 21,347
Large GWAS
Hispanic or Latin American
Jain D et al. “Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.” Human Molecular Genetics 26(6):1193-1204 (2017)
Allele A
OR 0.02
p 2.0e-18
N 11,809
Large GWAS
Hispanic or Latin American
Crosslin DR et al. “Genetic variation associated with circulating monocyte count in the eMERGE Network.” Human Molecular Genetics 22(10):2119-27 (2013)
Allele A
OR 0.22
p 5.0e-17
N 11,014
Large GWAS
multi-ancestry

integrin alpha-5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 1.0e-23
N 47,745
Large GWAS
European

monocyte measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.05
p 3.0e-11
N 39,631
Large GWAS
European
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Research that mentions this SNP (1)

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LPAR1andITGA4regulate peripheral blood monocyte counts
AssociationN=5,347Narelle Maugeri et al.(2011)· Human Mutation

A GWAS follow-up study identifies LPAR1 and ITGA4 as causal genes regulating peripheral blood monocyte counts. rs7023923 (chromosome 9q31) significantly associates with increased LPAR1 expression (P = 9.5 × 10⁻⁶) and monocyte counts, while rs6740847 (chromosome 2q31) associates with decreased ITGA4 expression and increased monocyte counts (combined P = 2.7 × 10⁻¹⁰). These two variants jointly account for 1.2% of variation in monocyte numbers.

Traits studied:Monocyte countsPeripheral blood monocyte numbers
PubMedDOIMetascience Observatory

About ITGA4

The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

View all ITGA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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