Research on Association between Ataxia Telangiectasia Mutated (ATM) Gene Single Nucleotide Polymorphism Rs189037 C > T and Essential Hypertension_Journal of Biomedical Engineering

Authors：

Center of Gerontology and Geriatrics, West China Hospital, Sichuan University, Chengdu 610041, China;

Corresponding author：

Keywords：

ataxia telangiectasia mutated gene; single nucleotide polymorphism; essential hypertension; coronary artery disease

DOI：

10.7507/1001-5515.20160121

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

This study aimed to explore the possible association between single nucleotide polymorphism (SNP) rs189037 C > T in the promoter region of ataxia telangiectasia mutated (ATM) gene and essential hypertension (EH). We performed a case-control study to collect randomly 369 hospitalized patients aged 50 years and above. They were divided into EH group (190 patients) and control group (179 subjects) according to the diagnostic criteria of hypertension. The SNP rs189037 genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism. The genotype frequencies of ATM gene polymorphism rs189037 for the whole sample were 33.9% CC, 48.0% CT, and 18.1% TT. There was no significant difference in the genotype frequency distributions of the SNP rs189037 between EH and control groups (P=0.619). After adjustment of the major confounding factors, the SNP rs189037 was still not associated with EH (P > 0.05). We further analyzed data from different groups divided by genders and age respectively, and the relationship was retained (P > 0.05). In addition, we found that the percentage of the TT genotype was much lower in coronary artery disease (CAD) patients than those in the CC or CT genotype (OR=0.49, 95% CI=0.26~0.90, P=0.021). In conclusion, our study suggests that SNP rs189037 in the promoter of ATM gene is not associated with EH. But it is related to the incidence of CAD, and TT genotype seems to be a protective factor for CAD.

Citation： DINGXiang, YUEJirong, HAOQiukui, CHENShanping, YANGMing, DONGBirong. Research on Association between Ataxia Telangiectasia Mutated (ATM) Gene Single Nucleotide Polymorphism Rs189037 C > T and Essential Hypertension. Journal of Biomedical Engineering, 2016, 33(4): 741-746. doi: 10.7507/1001-5515.20160121 Copy

1.	KUNES J, ZICHA J. The interaction of genetic and environmental factors in the etiology of hypertension[J]. Physiol Res, 2009, 58(2):S33-S41.
2.	GAO L L, DING X, XIE D M, et al. G-395A polymorphism in the promoter region of the KLOTHO gene and hypertension among elderly (90 years and older) Chinese individuals[J]. Genet Mol Res, 2015, 14(4):15444-15452.
3.	EL SHAMIEH S, HERBETH B, AZIMI-NEZHAD M, et al. Human formyl peptide receptor 1 C32T SNP interacts with age and is associated with blood pressure levels[J]. Clin Chim Acta, 2012, 413(1-2):34-38.
4.	SMIRNOV D A, CHEUNG V G. ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs[J]. Am J Hum Genet, 2008, 83(2):243-253.
5.	丁香, 丁义, 岳冀蓉, 等.共济失调毛细血管扩张症突变基因与心血管疾病危险因素的研究进展[J].生物医学工程学杂志, 2015, 32(2):475-479.
6.	SCHNEIDER J G, FINCK B N, REN Jie, et al. ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome[J]. Cell Metab, 2006, 4(5):377-389.
7.	ESPACH Y, LOCHNER A, STRIJDOM H, et al. ATM protein kinase signaling, type 2 diabetes and cardiovascular disease[J]. Cardiovasc Drugs Ther, 2015, 29(1):51-58.
8.	汤屹. ATM与癌症[J].中国实验血液学杂志, 2002, 10(1):77-80.
9.	谭静, 徐先发.共济失调毛细血管扩张症突变基因与肿瘤放射治疗敏感性[J].中国医学文摘:耳鼻咽喉科学, 2006, 21(6):360-362.
10.	WANG H C, CHANG W S, TSAI R Y, et al. Association between ataxia telangiectasia mutated gene polymorphisms and breast cancer in Taiwanese females[J]. Anticancer Res, 2010, 30(12):5217-5221.
11.	LIU Jing, WANG Xiaobo, REN Yangwu, et al. Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung cancer in Chinese:a case-control study[J]. PLoS One, 2014, 9(12):e115845.
12.	SONG C M, KWON T K, PARK B L, et al. Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma[J]. Environ Mol Mutagen, 2015, 56(1):70-76.
13.	WANG H M, SHI Y S, LI Q S, et al. Association between single nucleotide polymorphism locus rs189037 in the promoter of ATM gene and nasopharyngeal carcinoma susceptibility in Cantonese[J]. J South Med Univ, 2011, 31(11):1863-1866.
14.	CHOBANIAN A V, BAKRIS G L, BLACK H R, et al. Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure[J]. Hypertension, 2003, 42(6):1206-1252.
15.	DING X, YUE J R, YANG M, et al. Association between the rs189037 single nucleotide polymorphism in the ATM gene promoter and cognitive impairment[J]. Genet Mol Res, 2015, 14(2):4584-4592.
16.	ALBERTI K G, ZIMMET P Z. Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1:diagnosis and classification of diabetes mellitus provisional report of a WHO consultation[J]. Diabet Med, 1998, 15(7):539-553.
17.	VILVANATHAN S, GURUSAMY U, MUKTA V, et al. Allele and genotype frequency of a genetic variant in ataxia telangiectasia mutated gene affecting glycemic response to metformin in South Indian population[J]. Indian J Endocrinol Metab, 2014, 18(6):850-854.
18.	MERCER J R, CHENG K K, FIGG N, et al. DNA damage links mitochondrial dysfunction to atherosclerosis and the metabolic syndrome[J]. Circ Res, 2010, 107(8):1021-1031.
19.	王志国, 杨晔.胰岛素抵抗与高血压研究进展[J].中华老年心脑血管病杂志, 2006, 8(7):495-496.
20.	HSIA T C, TSAI C W, LIANG S J, et al. Effects of ataxia telangiectasia mutated (ATM) genotypes and smoking habits on lung cancer risk in Taiwan[J]. Anticancer Res, 2013, 33(9):4067-4071.
21.	BADALIAN L O, KALININA L V. Lipid metabolism disorder in ataxia-telangiectasia[J]. Zh Nevropatol Psikhiatr Im S S Korsakova, 1976, 76(5):665-669.
22.	SU Y, SWIFT M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles[J]. Ann Intern Med, 2000, 133(10):770-778.
23.	WU Dongfang, YANG Hong, XIANG Wei, et al. Heterozygous mutation of ataxia-telangiectasia mutated gene aggravates hypercholesterolemia in apoE-deficient mice[J]. J Lipid Res, 2005, 46(7):1380-1387.
24.	LI Sheyu, ZHANG Li, CHEN Tie, et al. Functional polymorphism rs189037 in the promoter region of ATM gene is associated with angiographically characterized coronary stenosis[J]. Atherosclerosis, 2011, 219(2):694-697.
25.	CHEN Tie, DONG Birong, LU Zhenchan, et al. A functional single nucleotide polymorphism in promoter of ATM is associated with longevity[J]. Mech Ageing Dev, 2010, 131(10):636-640.
26.	YANG D Q, KASTAN M B. Participation of ATM in insulin signalling through phosphorylation of eIF-4E-binding protein 1[J]. Nat Cell Biol, 2000, 2(12):893-898.
27.	MERCER J R, YU E, FIGG N, et al. The mitochondria-targeted antioxidant MitoQ decreases features of the metabolic syndrome in ATM+/-/ApoE-/-mice[J]. Free Radic Biol Med, 2012, 52(5):841-849.

1. KUNES J, ZICHA J. The interaction of genetic and environmental factors in the etiology of hypertension[J]. Physiol Res, 2009, 58(2):S33-S41.
2. GAO L L, DING X, XIE D M, et al. G-395A polymorphism in the promoter region of the KLOTHO gene and hypertension among elderly (90 years and older) Chinese individuals[J]. Genet Mol Res, 2015, 14(4):15444-15452.
3. EL SHAMIEH S, HERBETH B, AZIMI-NEZHAD M, et al. Human formyl peptide receptor 1 C32T SNP interacts with age and is associated with blood pressure levels[J]. Clin Chim Acta, 2012, 413(1-2):34-38.
4. SMIRNOV D A, CHEUNG V G. ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs[J]. Am J Hum Genet, 2008, 83(2):243-253.
5. 丁香, 丁义, 岳冀蓉, 等.共济失调毛细血管扩张症突变基因与心血管疾病危险因素的研究进展[J].生物医学工程学杂志, 2015, 32(2):475-479.
6. SCHNEIDER J G, FINCK B N, REN Jie, et al. ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome[J]. Cell Metab, 2006, 4(5):377-389.
7. ESPACH Y, LOCHNER A, STRIJDOM H, et al. ATM protein kinase signaling, type 2 diabetes and cardiovascular disease[J]. Cardiovasc Drugs Ther, 2015, 29(1):51-58.
8. 汤屹. ATM与癌症[J].中国实验血液学杂志, 2002, 10(1):77-80.
9. 谭静, 徐先发.共济失调毛细血管扩张症突变基因与肿瘤放射治疗敏感性[J].中国医学文摘:耳鼻咽喉科学, 2006, 21(6):360-362.
10. WANG H C, CHANG W S, TSAI R Y, et al. Association between ataxia telangiectasia mutated gene polymorphisms and breast cancer in Taiwanese females[J]. Anticancer Res, 2010, 30(12):5217-5221.
11. LIU Jing, WANG Xiaobo, REN Yangwu, et al. Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung cancer in Chinese:a case-control study[J]. PLoS One, 2014, 9(12):e115845.
12. SONG C M, KWON T K, PARK B L, et al. Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma[J]. Environ Mol Mutagen, 2015, 56(1):70-76.
13. WANG H M, SHI Y S, LI Q S, et al. Association between single nucleotide polymorphism locus rs189037 in the promoter of ATM gene and nasopharyngeal carcinoma susceptibility in Cantonese[J]. J South Med Univ, 2011, 31(11):1863-1866.
14. CHOBANIAN A V, BAKRIS G L, BLACK H R, et al. Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure[J]. Hypertension, 2003, 42(6):1206-1252.
15. DING X, YUE J R, YANG M, et al. Association between the rs189037 single nucleotide polymorphism in the ATM gene promoter and cognitive impairment[J]. Genet Mol Res, 2015, 14(2):4584-4592.
16. ALBERTI K G, ZIMMET P Z. Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1:diagnosis and classification of diabetes mellitus provisional report of a WHO consultation[J]. Diabet Med, 1998, 15(7):539-553.
17. VILVANATHAN S, GURUSAMY U, MUKTA V, et al. Allele and genotype frequency of a genetic variant in ataxia telangiectasia mutated gene affecting glycemic response to metformin in South Indian population[J]. Indian J Endocrinol Metab, 2014, 18(6):850-854.
18. MERCER J R, CHENG K K, FIGG N, et al. DNA damage links mitochondrial dysfunction to atherosclerosis and the metabolic syndrome[J]. Circ Res, 2010, 107(8):1021-1031.
19. 王志国, 杨晔.胰岛素抵抗与高血压研究进展[J].中华老年心脑血管病杂志, 2006, 8(7):495-496.
20. HSIA T C, TSAI C W, LIANG S J, et al. Effects of ataxia telangiectasia mutated (ATM) genotypes and smoking habits on lung cancer risk in Taiwan[J]. Anticancer Res, 2013, 33(9):4067-4071.
21. BADALIAN L O, KALININA L V. Lipid metabolism disorder in ataxia-telangiectasia[J]. Zh Nevropatol Psikhiatr Im S S Korsakova, 1976, 76(5):665-669.
22. SU Y, SWIFT M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles[J]. Ann Intern Med, 2000, 133(10):770-778.
23. WU Dongfang, YANG Hong, XIANG Wei, et al. Heterozygous mutation of ataxia-telangiectasia mutated gene aggravates hypercholesterolemia in apoE-deficient mice[J]. J Lipid Res, 2005, 46(7):1380-1387.
24. LI Sheyu, ZHANG Li, CHEN Tie, et al. Functional polymorphism rs189037 in the promoter region of ATM gene is associated with angiographically characterized coronary stenosis[J]. Atherosclerosis, 2011, 219(2):694-697.
25. CHEN Tie, DONG Birong, LU Zhenchan, et al. A functional single nucleotide polymorphism in promoter of ATM is associated with longevity[J]. Mech Ageing Dev, 2010, 131(10):636-640.
26. YANG D Q, KASTAN M B. Participation of ATM in insulin signalling through phosphorylation of eIF-4E-binding protein 1[J]. Nat Cell Biol, 2000, 2(12):893-898.
27. MERCER J R, YU E, FIGG N, et al. The mitochondria-targeted antioxidant MitoQ decreases features of the metabolic syndrome in ATM+/-/ApoE-/-mice[J]. Free Radic Biol Med, 2012, 52(5):841-849.

Journal of Biomedical Engineering

Research on Association between Ataxia Telangiectasia Mutated (ATM) Gene Single Nucleotide Polymorphism Rs189037 C > T and Essential Hypertension

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content