rs7089424

This is a regulatory region variant variant in the ARID5B gene.

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GWAS Catalog Trait Associations (1)

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

acute lymphoblastic leukemia

Wiemels JL et al. “GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21.” Nature Communications 9(1):286 (2018)
Allele T
OR 1.64
p 2.0e-62
N 19,240
Large GWAS
multi-ancestry
Papaemmanuil E et al. “Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.” Nature Genetics 41(9):1006-10 (2009)
Allele T
OR 1.65
p 7.0e-19
N 3,305
Large GWAS
European
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Research that mentions this SNP (2)

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Association of TLX1 gene polymorphisms with the risk of acute lymphoblastic leukemia and B lineage acute lymphoblastic leukemia in Han Chinese children
AssociationN=458Endian Mei et al.(2020)· Journal of Clinical Laboratory Analysis

This case-control study examined six TLX1 gene SNPs in 217 childhood acute lymphoblastic leukemia (ALL) cases and 241 controls from Han Chinese. rs17113735 showed increased ALL risk (OR 3.01, 95% CI 1.33-6.79, P=0.006) while rs946328 showed decreased risk (OR 0.64, 95% CI 0.42-0.98, P=0.039). For B-cell ALL specifically, rs17113735 increased risk (OR 2.94, 95% CI 1.29-6.72, P=0.008) and rs2075879 decreased risk (OR 0.66, 95% CI 0.44-0.99, P=0.044).

Traits studied:Acute lymphoblastic leukemiaB-cell acute lymphoblastic leukemiaT-cell acute lymphoblastic leukemia
PubMedDOIMetascience Observatory
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Replication analysis confirms the association of several variants with acute myeloid leukemia in Chinese population
AssociationN=1,579Songyu Cao et al.(2016)· Journal of Cancer Research and Clinical Oncology

Replication study in a Chinese population confirming associations between 16 SNPs and acute myeloid leukemia (AML) risk identified in European GWAS studies. Seven SNPs showed significant associations with AML susceptibility, including rs2191566 (OR=1.46), rs9290663 (OR=1.26), rs11155133 (OR=1.32), rs10873876 (OR=0.62, protective), rs2239633, rs10821936, and rs2242041, in a case-control study of 545 AML cases and 1034 controls.

Traits studied:AMLAcute myeloid leukemia
PubMedDOIMetascience Observatory

About ARID5B

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

View all ARID5B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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