rs10994982
This variant is located in the ARID5B gene.
▶Research that mentions this SNP (3)
▶Association of TLX1 gene polymorphisms with the risk of acute lymphoblastic leukemia and B lineage acute lymphoblastic leukemia in Han Chinese childrenAssociationN=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).
▶Replication analysis confirms the association of several variants with acute myeloid leukemia in Chinese populationAssociationN=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.
▶Genetic variants modify susceptibility to leukemia in infants: A Children's Oncology Group reportAssociationN=555Julie A. Ross et al.(2013)· Pediatric Blood & Cancer
A Children's Oncology Group candidate gene study of 171 infant leukemia cases and 384 controls examined three susceptibility loci (IKZF1, ARID5B, CEBPE) identified from childhood ALL GWAS. IKZF1 variants were associated with infant AML, irrespective of MLL rearrangements (OR=0.3 for AML/MLL- heterozygotes, 95% CI=0.1-0.9), providing the first evidence that IKZF1 modifies susceptibility to infant leukemia.
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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