rs1059513

This is a regulatory region variant variant in the NAB2 gene.

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GWAS Catalog Trait Associations (14)

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

asthma

Olafsdottir TA et al. “Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.” Nature Communications 11(1):393 (2020)
Allele T
OR 1.12
p 3.0e-29
N 771,388
Large GWAS
European
Ferreira MAR et al. “Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.” American Journal of Human Genetics 104(4):665-684 (2019)
Allele T
OR 1.13
p 6.0e-28
N 341,215
Large GWAS
European

allergic disease

Ferreira MA et al. “Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.” Nature Genetics 49(12):1752-1757 (2017)
Allele T
OR 1.08
p 1.0e-22
N 360,838
Large GWAS
European

serum IgE amount

Daya M et al. “Multiethnic genome-wide and HLA association study of total serum IgE level.” The Journal of Allergy and Clinical Immunology 148(6):1589-1595 (2021)
Allele C
OR —
p 1.0e-18
N 21,901
Large GWAS
multi-ancestry
Granada M et al. “A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.” The Journal of Allergy and Clinical Immunology 129(3):840-845.e21 (2012)
Allele C
OR 0.12
p 2.0e-12
N 6,819
CohortLarge GWAS
European

eosinophil percentage of leukocytes

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 C
OR 0.05
p 6.0e-18
N 172,378
Large GWAS
European

eosinophil percentage of granulocytes

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 C
OR 0.05
p 3.0e-17
N 170,536
Large GWAS
European

basophil count, eosinophil 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 C
OR 0.05
p 5.0e-17
N 171,771
Large GWAS
European

Inhalant adrenergic use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele C
OR 0.12
p 6.0e-17
N 176,445
Major Consortium StudyLarge GWAS
European

neutrophil percentage of granulocytes

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 C
OR 0.05
p 2.0e-15
N 170,672
Large GWAS
European

allergic sensitization measurement

Bønnelykke K et al. “Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.” Nature Genetics 45(8):902-906 (2013)
Allele T
OR 1.30
p 1.0e-14
N 15,845
Meta-analysisLarge GWAS
European
Waage J et al. “Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.” Nature Genetics 50(8):1072-1080 (2018)
Allele T
OR 1.27
p 1.0e-9
N 24,481
Large GWAS
European, NR

immunoglobulin E measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.17
p 1.0e-14
N 10,708
Large GWAS
European

About NAB2

This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

View all NAB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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