rs1420101

This is a intron variant variant in the IL1RL1 gene.

▶

GWAS Catalog Trait Associations (6)

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

interleukin 1 receptor-like 1 measurement

Folkersen L et al. “Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.” Plos Genetics 13(4):e1006706 (2017)
Allele C
OR 0.58
p 6.0e-254
N 3,394
Large GWAS
European

drug use measurement, asthma

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 0.10
p 6.0e-23
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

asthma

Demenais F et al. “Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.” Nature Genetics 50(1):42-53 (2018)
Allele T
OR 1.12
p 4.0e-21
N 142,486
Large GWAS
multi-ancestry
Dahlin A et al. “Large-scale, multiethnic genome-wide association study identifies novel loci contributing to asthma susceptibility in adults.” The Journal of Allergy and Clinical Immunology 143(4):1633-1635 (2019)
Allele T
OR 1.10
p 8.0e-15
N 54,543
Large GWAS
European

proteoglycan 3 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 3.0e-17
N 47,745
Large GWAS
European

Nasal Cavity Polyp

Kristjansson RP et al. “A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.” Nature Genetics 51(2):267-276 (2019)
Allele T
OR 1.15
p 4.0e-9
N 719,047
Large GWAS
European

eosinophil count

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 A
OR 0.08
p 6.0e-182
N 485,659
Major Consortium StudyLarge GWAS
multi-ancestry
Gudbjartsson DF et al. “Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.” Nature Genetics 41(3):342-7 (2009)
Allele A
OR 6.40
p 5.0e-14
N 9,392
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (3)

▶
FcɛR1α gene polymorphism shows association with high IgE and anti‐FcɛR1α in Chronic Rhinosinusitis with Nasal Polyposis
AssociationN=282Sajad A. Dar et al.(2018)· Journal of Cellular Biochemistry

A retrospective cohort study of 282 patients with severe uncontrolled asthma treated with omalizumab, mepolizumab, or benralizumab for 12 months evaluated genetic variants in 11 genes (IL1RL1, IL5, GATA2, IKZF2, RAD50, C3, FCER1A, FCER1B, FCGR2A, FCGR2B, FCGR3A) as predictors of response. Key findings: FCGR2B rs3219018-C, GATA2 rs4857855-T, and FCGR2A rs1801274-AG associated with improved lung function in omalizumab (p=0.052, 0.052, 0.012); IL1RL1 rs17026974-AG/GG associated with reduced exacerbations in omalizumab (p=0.040, 0.041); FCER1B rs569108-AA and FCGR2A rs1801274-GG associated with corticosteroid reduction in benralizumab; FCER1A rs2427837-A associated with improved lung function in mepolizumab (p=0.023).

Traits studied:Exacerbation reductionLung function improvementOral corticosteroid reductionResponse to benralizumabResponse to mepolizumabResponse to omalizumabSevere uncontrolled asthma
PubMedDOIMetascience Observatory
▶
Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory
▶
Allergy and glioma risk: Test of association by genotype
AssociationN=5,548Sara E. Dobbins et al.(2011)· International Journal of Cancer

Case-control genome-wide association study of 1,878 glioma cases and 3,670 controls examining associations between asthma/allergy susceptibility variants and glioma risk. SNP rs7216389 at 17q21 (ORMDL3) was significantly associated with increased glioma risk (OR=1.10, 95% CI: 1.01-1.19, P=0.022), providing genetic evidence for a positive association between asthma susceptibility and glioma risk, contrary to epidemiological studies reporting inverse associations.

Traits studied:AsthmaAtopic dermatitisAtopy/AllergyEczemaEosinophil countGliomaIgE levels
PubMedDOIMetascience Observatory

About IL1RL1

The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

View all IL1RL1 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…