rs189037

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

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ClinVar annotation

Benign★★★☆
5 submitters2 publications

Ataxia-telangiectasia syndrome (AT)

View on ClinVar →
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Research that mentions this SNP (5)

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Association of polymorphisms in LOC105377871 and CASC16 with breast cancer in the northwest Chinese Han population
AssociationN=1,006Yao Sun et al.(2020)· The Journal of Gene Medicine

A case-control study of 503 breast cancer patients and 503 healthy controls in northwest Chinese Han population found that rs17530068 (LOC105377871) increases breast cancer risk (p=0.047, OR=1.23, 95% CI=1.00-1.50 in log-additive model), and rs4784227 (CASC16) significantly increases risk of lymph node metastasis in breast cancer patients (p=0.025, OR=1.51, 95% CI=1.05-2.17 for allele model; p=0.008, OR=1.99, 95% CI=1.20-3.31 in codominant model).

Traits studied:Breast cancerLymph node metastasis
PubMedDOIMetascience Observatory
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Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer
Meta-analysisN=14,463Yun Feng et al.(2018)· Molecular Carcinogenesis

A pathway-based genome-wide association study meta-analysis of 8 GWAS cohorts (12,160–14,463 cases, 16,838–43,365 controls) investigating P38MAPK pathway genes and lung cancer risk. Two significant SNPs in ZAK (rs3769201 and rs722864) were associated with decreased lung cancer risk (OR ~0.86–0.88) and decreased ZAK mRNA expression levels.

Traits studied:AdenocarcinomaLung cancerSmoking-related lung cancerSquamous cell carcinoma
PubMedDOIMetascience Observatory
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Potentially functional polymorphisms in DNA repair genes and non‐small‐cell lung cancer survival: A pathway‐based analysis
AssociationN=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.

Traits studied:Non-small-cell lung cancer survivalPlatinum-based chemotherapy response
PubMedDOIMetascience Observatory
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Association between DNA repair gene ATM polymorphisms and oral cancer susceptibility
AssociationN=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.

Traits studied:Oral cancer
PubMedDOIMetascience Observatory
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Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end‐joining pathway genes
AssociationN=768Ruo‐Chia Tseng et al.(2009)· Cancer

A case-control study of 384 glioma patients and 384 controls investigated 10 SNPs in 7 DNA double-strand break repair genes. LIG4 rs1805388 (T9I, OR=3.27 for TT and 1.62 for TC) and XRCC4 rs1805377 (splice-site, OR=1.77 for GG) were significantly associated with increased glioma risk. The two variants showed significant gene-gene interaction effects (multiplicative OR=2.22, p=0.005).

Traits studied:Glioma
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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