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Association of a MiR-499 SNP and risk of congenital heart disease in a Chinese population
Corresponding Author(s) : Yanwen Bi
Cellular and Molecular Biology,
Vol. 64 No. 10: Issue 10
Abstract
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- Nemer M. Genetic insights into normal and abnormal heart development. Cardiovasc Pathol 2008; 17:48-54.
- Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res 2013; 112:707-20.
- Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. Clin Genet 2010; 78:103-23.
- Satou Y, Satoh N. Gene regulatory networks for the development and evolution of the chordate heart. Genes Dev 2006; 20:2634-8.
- Olson EN. Gene regulatory networks in the evolution and development of the heart. Science 2006; 313:1922-7.
- Bentham J, Bhattacharya S. Genetic mechanisms controlling cardiovascular development. Ann N Y Acad Sci 2008; 1123:10-9.
- Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 1999; 104:1567-73.
- Bruneau BG, Nemer G, Schmitt JP, Charron F, Robitaille L, Caron S, Conner DA, Gessler M, Nemer M, Seidman CE, et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 2001; 106:709-21.
- Kodo K, Nishizawa T, Furutani M, Arai S, Ishihara K, Oda M, Makino S, Fukuda K, Takahashi T, Matsuoka R, et al. Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects. Circ J 2012; 76:1703-11.
- Clark KL, Yutzey KE, Benson DW. Transcription factors and congenital heart defects. Annu Rev Physiol 2006; 68:97-121.
- Kirke PN, Molloy AM, Daly LE, Burke H, Weir DG, Scott JM. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med 1993; 86:703-8.
- Steegers-Theunissen RP, Boers GH, Trijbels FJ, Finkelstein JD, Blom HJ, Thomas CM, Borm GF, Wouters MG, Eskes TK. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism 1994; 43:1475-80.
- Mills JL, McPartlin JM, Kirke PN, Lee YJ, Conley MR, Weir DG, Scott JM. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 1995; 345:149-51.
- Swanson DA, Liu ML, Baker PJ, Garrett L, Stitzel M, Wu J, Harris M, Banerjee R, Shane B, Brody LC. Targeted disruption of the methionine synthase gene in mice. Mol Cell Biol 2001; 21:1058-65.
- Kalhan SC, Bier DM. Protein and amino acid metabolism in the human newborn. Annu Rev Nutr 2008; 28:389-410.
- Fisher MC, Zeisel SH, Mar MH, Sadler TW. Perturbations in choline metabolism cause neural tube defects in mouse embryos in vitro. Faseb j 2002; 16:619-21.
- Zhao JY, Qiao B, Duan WY, Gong XH, Peng QQ, Jiang SS, Lu CQ, Chen YJ, Shen HB, Huang GY, et al. Genetic variants reducing MTR gene expression increase the risk of congenital heart disease in Han Chinese populations. Eur Heart J 2014; 35:733-42.
- Cai B, Zhang T, Zhong R, Zou L, Zhu B, Chen W, Shen N, Ke J, Lou J, Wang Z, et al. Genetic variant in MTRR, but not MTR, is associated with risk of congenital heart disease: an integrated meta-analysis. PLoS One 2014; 9:e89609.
- Tian J, An X, Niu L. Role of microRNAs in cardiac development and disease. Exp Ther Med 2017; 13:3-8.
- Smith T, Rajakaruna C, Caputo M, Emanueli C. MicroRNAs in congenital heart disease. Ann Transl Med 2015; 3:333.
- Wang L, Li Z, Song X, Liu L, Su G, Cui Y. Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients. Int Heart J 2016; 57:490-5.
- Biermann D, Eder A, Arndt F, Seoudy H, Reichenspurner H, Mir T, Riso A, Kozlik-Feldmann R, Peldschus K, Kaul MG, et al. Towards a Tissue-Engineered Contractile Fontan-Conduit: The Fate of Cardiac Myocytes in the Subpulmonary Circulation. PLoS One 2016; 11:e0166963.
- Liu L, Yuan Y, He X, Xia X, Mo X. MicroRNA-1 upregulation promotes myocardiocyte proliferation and suppresses apoptosis during heart development. Mol Med Rep 2017.
- Hartmann D, Fiedler J, Sonnenschein K, Just A, Pfanne A, Zimmer K, Remke J, Foinquinos A, Butzlaff M, Schimmel K, et al. MicroRNA-Based Therapy of GATA2-Deficient Vascular Disease. Circulation 2016; 134:1973-90.
- Chen W, Li S. Circulating microRNA as a Novel Biomarker for Pulmonary Arterial Hypertension Due to Congenital Heart Disease. Pediatr Cardiol 2017; 38:86-94.
- Yu K, Ji Y, Wang H, Xuan QK, Li BB, Xiao JJ, Sun W, Kong XQ. Association of miR-196a2, miR-27a, and miR-499 polymorphisms with isolated congenital heart disease in a Chinese population. Genet Mol Res 2016; 15.
- Huang JB, Mei J, Jiang LY, Jiang ZL, Liu H, Zhang JW, Ding FB. MiR-196a2 rs11614913 T>C Polymorphism is Associated with an Increased Risk of Tetralogy of Fallot in a Chinese Population. Acta Cardiol Sin 2015; 31:18-23.
- Gu H, Qiu W, Wan Y, Ding G, Tang W, Liu C, Shi Y, Chen Y, Chen S. Variant allele of CHEK2 is associated with a decreased risk of esophageal cancer lymph node metastasis in a Chinese population. Mol Biol Rep 2012; 39:5977-84.
- Gong D, Gu H, Zhang Y, Gong J, Nie Y, Wang J, Zhang H, Liu R, Hu S, Zhang H. Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects. Clin Chem Lab Med 2012; 50:1455-61.
- Schaeffeler E, Zanger UM, Eichelbaum M, Asante-Poku S, Shin JG, Schwab M. Highly multiplexed genotyping of thiopurine s-methyltransferase variants using MALD-TOF mass spectrometry: reliable genotyping in different ethnic groups. Clin Chem 2008; 54:1637-47.
- Ranjha R, Meena NK, Singh A, Ahuja V, Paul J. Association of miR-196a-2 and miR-499 variants with ulcerative colitis and their correlation with expression of respective miRNAs. PLoS One 2017; 12:e0173447.
- Dai ZM, Kang HF, Zhang WG, Li HB, Zhang SQ, Ma XB, Lin S, Wang M, Feng YJ, Liu K, et al. The Associations of Single Nucleotide Polymorphisms in miR196a2, miR-499, and miR-608 With Breast Cancer Susceptibility: A STROBE-Compliant Observational Study. Medicine (Baltimore) 2016; 95:e2826.
- Chen C, Yang S, Chaugai S, Wang Y, Wang DW. Meta-analysis of Hsa-mir-499 polymorphism (rs3746444) for cancer risk: evidence from 31 case-control studies. BMC Med Genet 2014; 15:126.
- Ma Y, Wang R, Zhang J, Li W, Gao C, Liu J, Wang J. Identification of miR-423 and miR-499 polymorphisms on affecting the risk of hepatocellular carcinoma in a large-scale population. Genet Test Mol Biomarkers 2014; 18:516-24.
References
Nemer M. Genetic insights into normal and abnormal heart development. Cardiovasc Pathol 2008; 17:48-54.
Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res 2013; 112:707-20.
Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. Clin Genet 2010; 78:103-23.
Satou Y, Satoh N. Gene regulatory networks for the development and evolution of the chordate heart. Genes Dev 2006; 20:2634-8.
Olson EN. Gene regulatory networks in the evolution and development of the heart. Science 2006; 313:1922-7.
Bentham J, Bhattacharya S. Genetic mechanisms controlling cardiovascular development. Ann N Y Acad Sci 2008; 1123:10-9.
Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 1999; 104:1567-73.
Bruneau BG, Nemer G, Schmitt JP, Charron F, Robitaille L, Caron S, Conner DA, Gessler M, Nemer M, Seidman CE, et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 2001; 106:709-21.
Kodo K, Nishizawa T, Furutani M, Arai S, Ishihara K, Oda M, Makino S, Fukuda K, Takahashi T, Matsuoka R, et al. Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects. Circ J 2012; 76:1703-11.
Clark KL, Yutzey KE, Benson DW. Transcription factors and congenital heart defects. Annu Rev Physiol 2006; 68:97-121.
Kirke PN, Molloy AM, Daly LE, Burke H, Weir DG, Scott JM. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med 1993; 86:703-8.
Steegers-Theunissen RP, Boers GH, Trijbels FJ, Finkelstein JD, Blom HJ, Thomas CM, Borm GF, Wouters MG, Eskes TK. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism 1994; 43:1475-80.
Mills JL, McPartlin JM, Kirke PN, Lee YJ, Conley MR, Weir DG, Scott JM. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 1995; 345:149-51.
Swanson DA, Liu ML, Baker PJ, Garrett L, Stitzel M, Wu J, Harris M, Banerjee R, Shane B, Brody LC. Targeted disruption of the methionine synthase gene in mice. Mol Cell Biol 2001; 21:1058-65.
Kalhan SC, Bier DM. Protein and amino acid metabolism in the human newborn. Annu Rev Nutr 2008; 28:389-410.
Fisher MC, Zeisel SH, Mar MH, Sadler TW. Perturbations in choline metabolism cause neural tube defects in mouse embryos in vitro. Faseb j 2002; 16:619-21.
Zhao JY, Qiao B, Duan WY, Gong XH, Peng QQ, Jiang SS, Lu CQ, Chen YJ, Shen HB, Huang GY, et al. Genetic variants reducing MTR gene expression increase the risk of congenital heart disease in Han Chinese populations. Eur Heart J 2014; 35:733-42.
Cai B, Zhang T, Zhong R, Zou L, Zhu B, Chen W, Shen N, Ke J, Lou J, Wang Z, et al. Genetic variant in MTRR, but not MTR, is associated with risk of congenital heart disease: an integrated meta-analysis. PLoS One 2014; 9:e89609.
Tian J, An X, Niu L. Role of microRNAs in cardiac development and disease. Exp Ther Med 2017; 13:3-8.
Smith T, Rajakaruna C, Caputo M, Emanueli C. MicroRNAs in congenital heart disease. Ann Transl Med 2015; 3:333.
Wang L, Li Z, Song X, Liu L, Su G, Cui Y. Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients. Int Heart J 2016; 57:490-5.
Biermann D, Eder A, Arndt F, Seoudy H, Reichenspurner H, Mir T, Riso A, Kozlik-Feldmann R, Peldschus K, Kaul MG, et al. Towards a Tissue-Engineered Contractile Fontan-Conduit: The Fate of Cardiac Myocytes in the Subpulmonary Circulation. PLoS One 2016; 11:e0166963.
Liu L, Yuan Y, He X, Xia X, Mo X. MicroRNA-1 upregulation promotes myocardiocyte proliferation and suppresses apoptosis during heart development. Mol Med Rep 2017.
Hartmann D, Fiedler J, Sonnenschein K, Just A, Pfanne A, Zimmer K, Remke J, Foinquinos A, Butzlaff M, Schimmel K, et al. MicroRNA-Based Therapy of GATA2-Deficient Vascular Disease. Circulation 2016; 134:1973-90.
Chen W, Li S. Circulating microRNA as a Novel Biomarker for Pulmonary Arterial Hypertension Due to Congenital Heart Disease. Pediatr Cardiol 2017; 38:86-94.
Yu K, Ji Y, Wang H, Xuan QK, Li BB, Xiao JJ, Sun W, Kong XQ. Association of miR-196a2, miR-27a, and miR-499 polymorphisms with isolated congenital heart disease in a Chinese population. Genet Mol Res 2016; 15.
Huang JB, Mei J, Jiang LY, Jiang ZL, Liu H, Zhang JW, Ding FB. MiR-196a2 rs11614913 T>C Polymorphism is Associated with an Increased Risk of Tetralogy of Fallot in a Chinese Population. Acta Cardiol Sin 2015; 31:18-23.
Gu H, Qiu W, Wan Y, Ding G, Tang W, Liu C, Shi Y, Chen Y, Chen S. Variant allele of CHEK2 is associated with a decreased risk of esophageal cancer lymph node metastasis in a Chinese population. Mol Biol Rep 2012; 39:5977-84.
Gong D, Gu H, Zhang Y, Gong J, Nie Y, Wang J, Zhang H, Liu R, Hu S, Zhang H. Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects. Clin Chem Lab Med 2012; 50:1455-61.
Schaeffeler E, Zanger UM, Eichelbaum M, Asante-Poku S, Shin JG, Schwab M. Highly multiplexed genotyping of thiopurine s-methyltransferase variants using MALD-TOF mass spectrometry: reliable genotyping in different ethnic groups. Clin Chem 2008; 54:1637-47.
Ranjha R, Meena NK, Singh A, Ahuja V, Paul J. Association of miR-196a-2 and miR-499 variants with ulcerative colitis and their correlation with expression of respective miRNAs. PLoS One 2017; 12:e0173447.
Dai ZM, Kang HF, Zhang WG, Li HB, Zhang SQ, Ma XB, Lin S, Wang M, Feng YJ, Liu K, et al. The Associations of Single Nucleotide Polymorphisms in miR196a2, miR-499, and miR-608 With Breast Cancer Susceptibility: A STROBE-Compliant Observational Study. Medicine (Baltimore) 2016; 95:e2826.
Chen C, Yang S, Chaugai S, Wang Y, Wang DW. Meta-analysis of Hsa-mir-499 polymorphism (rs3746444) for cancer risk: evidence from 31 case-control studies. BMC Med Genet 2014; 15:126.
Ma Y, Wang R, Zhang J, Li W, Gao C, Liu J, Wang J. Identification of miR-423 and miR-499 polymorphisms on affecting the risk of hepatocellular carcinoma in a large-scale population. Genet Test Mol Biomarkers 2014; 18:516-24.