rs3859192

This is a regulatory region variant variant in the GSDMA gene.

▶

GWAS Catalog Trait Associations (5)

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

basophil measurement

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 C
OR 0.04
p 1.0e-25
N 158,583
Major Consortium StudyLarge GWAS
European

asthma, age at onset

Sarnowski C et al. “Identification of a new locus at 16q12 associated with time to asthma onset.” The Journal of Allergy and Clinical Immunology 138(4):1071-1080 (2016)
Allele T
OR 1.16
p 2.0e-13
N 13,886
Large GWAS
European

leukocyte quantity

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 A
OR 0.14
p 2.0e-12
N 13,533
Large GWAS
multi-ancestry

body composition measurement

Wu Z et al. “Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk.” Nature Communications 16(1):7490 (2025)
Allele T
OR 0.05
p 1.0e-11
N 39,134
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
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 GSDMA

Enables wide pore channel activity. Involved in defense response to bacterium and pyroptotic inflammatory response. Located in perinuclear region of cytoplasm. Is active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all GSDMA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…