rs1529672

This variant is located in the RARB gene.

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GWAS Catalog Trait Associations (4)

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

FEV/FVC ratio

Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele A
OR 14.93
p 2.0e-50
N 588,452
Large GWAS
multi-ancestry
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 0.03
p 6.0e-42
N 394,642
Large GWAS
European
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele A
OR 0.04
p 2.0e-41
N 321,047
Large GWAS
European

FEV/FVC ratio, pulmonary function measurement

Soler Artigas M et al. “Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.” Nature Genetics 43(11):1082-90 (2011)
Allele C
OR 0.05
p 4.0e-14
N 48,201
Large GWAS
European

chronic obstructive pulmonary disease

Sakornsakolpat P et al. “Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.” Nature Genetics 51(3):494-505 (2019)
Allele C
OR 1.09
p 3.0e-11
N 257,811
Large GWAS
European, East Asian, African American or Afro-Caribbean, Hispanic or Latin American, NR
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele C
OR 0.86
p 8.0e-9
N 204,907
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.15
p 1.0e-9
N 166,670
Large GWAS
East Asian
Hobbs BD et al. “Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.” Nature Genetics 49(3):426-432 (2017)
Allele C
OR 1.11
p 2.0e-8
N 58,918
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genes
AssociationN=714Inna G. Ovsyannikova et al.(2010)· Human Genetics

A candidate gene association study of 714 healthy children examined associations between 148 SNPs in innate immunity genes (TLR, vitamin A and D receptors, RIG-I pathway, TRIM factors) and rubella vaccine-induced cytokine responses. Twenty-two significant associations (P = 0.002–0.048) were found, including rs3740996 (His43Tyr) and rs10838525 (Gln136Arg) in TRIM5 with TNFα and IL-2/GM-CSF responses, and rs5743305 in TLR3 with GM-CSF secretion.

Traits studied:Rubella vaccine-induced cytokine responseRubella virus-specific GM-CSF secretionRubella virus-specific IFNγ secretionRubella virus-specific IL-10 secretionRubella virus-specific IL-12p40 secretionRubella virus-specific IL-2 secretionRubella virus-specific IL-4 secretionRubella virus-specific IL-5 secretionRubella virus-specific IL-6 secretionRubella virus-specific TNFα secretion
PubMedDOIMetascience Observatory

About RARB

This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]

View all RARB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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