Association between the rs189037 single nucleotide polymorphism in the ATM gene promoter and cognitive impairment

Ding, Xiang; Yue, Jirong; Yang, Ming; Qin, Hao; Xiao, Hengyi; Chen, T.; Gao, Langli; Dong, Birong

doi:10.4238/2015.may.4.17

Cited by 6 publications

(4 citation statements)

References 30 publications

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“…ATM gene has been shown to play an important role in DNA repair. Previous studies have reported correlations between DNA repair capacity and the regulation of ATM expression [ 33 , 34 ]. It has been demonstrated that the aberrant overexpression of miR-421 may down-regulated ATM , therefore, can lead to SKX squamous cell carcinoma [ 35 ].In addition, it has been shown that miR-203 may be responsible for ATM down-regulation in breast cancers [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

MiR-2964a-5p binding site SNP regulates ATM expression contributing to age-related cataract risk

Ren

Zhang

et al. 2017

Oncotarget

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This study was to explore the involvement of DNA repair genes in the pathogenesis of age-related cataract (ARC). We genotyped nine single nucleotide polymorphisms (SNPs) of genes responsible to DNA double strand breaks (DSBs) in 804 ARC cases and 804 controls in a cohort of eye diseases in Chinese population and found that the ataxia telangiectasia mutated (ATM) gene-rs4585:G>T was significantly associated with ARC risk. An in vitro functional test found that miR-2964a-5p specifically down-regulated luciferase reporter expression and ATM expression in the cell lines transfected with rs4585 T allele compared to rs4585 G allele. The molecular assay on human tissue samples discovered that ATM expression was down-regulated in majority of ARC tissues and correlated with ATM genotypes. In addition, the Comet assay of cellular DNA damage of peripheral lymphocytes indicated that individuals carrying the G allele (GG/GT) of ATM-rs4585 had lower DNA breaks compared to individuals with TT genotype. These findings suggested that the SNP rs4585 in ATM might affect ARC risk through modulating the regulatory affinity of miR-2964a-5p. The reduced DSBs repair might be involved in ARC pathogenesis.

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Section: Discussionmentioning

confidence: 99%

MiR-2964a-5p binding site SNP regulates ATM expression contributing to age-related cataract risk

Ren

Zhang

et al. 2017

Oncotarget

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“…SNP rs189037 of ATM gene was genotyped by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) as previously described. [ 34 ] Forward primer was 5′-GCTGCTTGGCGTTGCTT-3′ and reverse primer was 5′-CATGCGATTGGCGGTCTGG-3′ (TaKaRa, Dalian, China). The PCR reaction was performed in 25 μL total volume containing 2 μL of genomic DNA.…”

Section: Methodsmentioning

confidence: 99%

The association of single nucleotide polymorphism rs189037C>T in ATM gene with coronary artery disease in Chinese Han populations

Ding

Qin

et al. 2018

Medicine

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“…SNP rs189037 of the ATM gene was genotyped using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Forward primer 5′-GCTGCTTGGCGTTGCTT-3′ and reverse primer 5′-CATGCGATTGGCGGTCTGG-3′ (TaKaRa, Dalian, China) were designed and synthesized as described in our previous study [ 28 ]. The amplification conditions were used as follows: initial denaturation at 94 °C for 3 min, followed by 30 cycles of amplification which included denaturation at 94 °C for 30 s, annealing at 55 °C for 30 s, and extension at 72 °C for 30 s with a final extension of 5 min at 72 °C.…”

Section: Methodsmentioning

confidence: 99%

Polymorphism rs189037C > T in the promoter region of the ATM gene may associate with reduced risk of T2DM in older adults in China: a case control study

et al. 2017

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BackgroundRecent evidence indicates that ataxia telangiectasia mutated (ATM) is a cytoplasmic protein that involves in insulin signaling pathways. When ATM gene is mutated, this event appears to contribute to the development of insulin resistance and type 2 diabetes mellitus (T2DM). Up to date, little information about the relationship between ATM gene polymorphism and T2DM is available. This study aimed to explore potential association between a genetic variant [single nucleotide polymorphism (SNP), i.e. rs189037C > T] in the ATM promoter region and T2DM in older adults in China.MethodsWe conducted a 1:1 age- and sex-matched case-control study. It enrolled 160 patients including 80 type 2 diabetic and 80 nondiabetic patients who were aged 60 years and above. Genotyping of the polymorphism rs189037 in the promoter of the ATM gene was performed using polymerase chain reaction-restriction fragment length polymorphism. Chi-square test or Fisher’s exact test (when an expected cell count was <5) and unpaired Student’s t test were used for categorical and continuous variables, respectively. Logistic regression was used to estimate odds ratio (OR) and 95% confidence interval (CI) with adjustment for factors associated with T2DM.ResultsSignificant association was found between the genotypes of the ATM rs189037 polymorphism and T2DM (P = 0.037). The frequency of CT genotype is much higher in patients without T2DM than in diabetics (60.0% versus 40.0%, P = 0.012). After adjustment of the major confounding factors, such difference remained significant (OR for non-T2DM is 2.62, 95%CI = 1.05–6.53, P = 0.038). Similar effect of CT genotype on T2DM was observed in male population (adjusted: OR = 0.27, 95%CI = 0.09–0.84, P = 0.024). In addition, the percentage of TT genotype in diabetics with coronary artery disease (CAD) was considerably lower than in those without CAD (17.9% versus 61.5%, P = 0.004).ConclusionsOur study suggests that the ATM rs189037 polymorphism is associated with reduced risk of T2DM in older adult population in China. Specifically, CT heterozygote seems to be associated with a lower risk of T2DM than CC or TT genotype, especially in male older adults. Moreover, TT genotype may reduce the risk of CAD in diabetic patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-017-0446-z) contains supplementary material, which is available to authorized users.

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Association between the rs189037 single nucleotide polymorphism in the ATM gene promoter and cognitive impairment

Cited by 6 publications

References 30 publications

MiR-2964a-5p binding site SNP regulates ATM expression contributing to age-related cataract risk

MiR-2964a-5p binding site SNP regulates ATM expression contributing to age-related cataract risk

The association of single nucleotide polymorphism rs189037C>T in ATM gene with coronary artery disease in Chinese Han populations

Polymorphism rs189037C > T in the promoter region of the ATM gene may associate with reduced risk of T2DM in older adults in China: a case control study

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