rs228589
This is a regulatory region variant variant in the ATM gene.
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶Potentially functional polymorphisms in DNA repair genes and non‐small‐cell lung cancer survival: A pathway‐based analysisAssociationN=568Jing Dong et al.(2012)· Molecular Carcinogenesis
A pathway-based candidate gene association study of 218 SNPs in 50 DNA repair genes on non-small-cell lung cancer (NSCLC) survival in 568 Chinese patients. Six SNPs remained significant in multivariate analysis: ATM rs189037 (HR=1.40, p=0.011), MRE11A rs11020802 (HR=1.35, p=0.007), ERCC2 rs1799793 (HR=1.56, p=0.009), MBD4 rs140693 (HR=0.49, p=0.001), XRCC1 rs25487 (HR=1.66, p=0.001), and PMS1 rs5742933 (HR=1.89, p=0.011). In advanced patients treated with platinum-based chemotherapy, ERCC1 rs11615 and XPC rs2228000 were associated with survival.
▶Association between DNA repair gene ATM polymorphisms and oral cancer susceptibilityAssociationN=1,240Da‐Tian Bau et al.(2010)· The Laryngoscope
This hospital-based case-control study examined seven ATM gene polymorphisms in 620 oral cancer patients and 620 healthy controls from Taiwan. ATM rs189037 A allele showed significant association with increased oral cancer susceptibility (p = 5.09E-6, allele frequency 48.5% cases vs 38.5% controls), with stronger effects in smokers (OR 1.95), alcohol drinkers (OR 1.61), and betel quid chewers (OR 2.05). The other six ATM polymorphisms showed no significant association.
▶ATM sequence variants associate with susceptibility to non‐small cell lung cancerAssociationN=1,112Hushan Yang et al.(2007)· International Journal of Cancer
This case-control study of 556 Caucasian NSCLC patients and 556 matched controls examined 11 ATM gene polymorphisms. Homozygous variant genotypes of ATM08 (rs227060) and ATM10 (rs170548) were associated with elevated NSCLC risk (ORs 1.55 and 1.51, respectively). ATM haplotype H5 was protective in former smokers (OR 0.47), while diplotypes H2-H2 and H3-H4 showed increased risk (ORs 1.58 and 2.29). Comet assay confirmed that homozygous variant carriers exhibited significantly increased radiation-induced DNA damage, supporting a mechanism through impaired DNA repair capacity.
About ATM
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
View all ATM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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