rs4065321

This is a intron variant variant in the PSMD3 gene.

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GWAS Catalog Trait Associations (3)

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

neutrophil-to-lymphocyte ratio

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR —
p 2.0e-111
N 234,502
Large GWAS
European

basophil count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.05
p 2.0e-47
N 171,846
Large GWAS
European

leukocyte quantity

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele T
OR 0.09
p 3.0e-14
N 14,677
Large GWAS
East Asian
Crosslin DR et al. “Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network” Human Genetics (2012)
Allele T
OR 0.14
p 1.0e-12
N 13,533
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network
AssociationN=13,923Crosslin DR et al.(2012)· Human Genetics

This GWAS of 13,923 subjects identified ancestry-specific genetic variants associated with white blood cell count. In African ancestry individuals, the DARC gene variants rs2814778 (β=1.35, p=6.71e-55) and rs12075 (β=1.27, p=4.92e-24) showed genome-wide significant associations. In European ancestry individuals, variants in the 17q21.1 region tagging GSDMA, PSMD3, and MED24 were associated with WBC (rs3859192: β=0.14, p=1.75e-12; rs4065321: β=0.14, p=3.47e-11), with evidence of pleiotropy with asthma-associated variants.

Traits studied:Basophil countEosinophil countLymphocyte countMonocyte countNeutrophil countWhite blood cell count
PubMedDOIMetascience Observatory

About PSMD3

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]

View all PSMD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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