rs1441850

This is a intron variant variant in the IL7 gene.

▶

GWAS Catalog Trait Associations (3)

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

lymphocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.05
p 1.0e-116
N 524,923
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 4.0e-77
N 394,642
Large GWAS
European

platelet-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 T
OR —
p 1.0e-39
N 234,552
Large GWAS
European

lymphocyte:monocyte 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 T
OR —
p 2.0e-32
N 234,184
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Interleukin‐7 gene polymorphism rs766736182 associates with the risk of asthma in children
AssociationN=926Junhua Cao et al.(2019)· Journal of Clinical Laboratory Analysis

Case-control study of 437 asthma patients and 489 healthy controls in Chinese Han population examining interleukin-7 gene polymorphisms. SNP rs766736182, a missense variant causing Lys175Glu substitution, showed significant association with childhood asthma risk (OR=2.185, 95% CI=1.561-2.252, p=8.69×10⁻¹⁹). Seven other IL-7 SNPs showed no significant associations.

Traits studied:AsthmaChildhood asthma
PubMedDOIMetascience Observatory

About IL7

The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. IL7 is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. IL7 plays an essential role in lymphoid cell survival, and in the maintenance of naive and memory T cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their presence in normal tissues has not been confirmed. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can be a potent inducer of proinflammatory cytokines and chemokines which may defend against the infection, but may also mediate destructive lung injury. Elevated serum IL7 levels, together with several other circulating cytokines and chemokines, has been found to be associated with the severity of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Jul 2020]

View all IL7 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…