Association of promoter methylation statuses of congenital heart defect candidate genes with tetralogy of fallot

Journal of Translational Medicine

Volumn 12, Issue 1, 2014, Pages

  Sheng, Wei ^a,c   Qian, Yanyan ^b   Zhang, Ping ^c   Wu, Yao ^a   Wang, Huijun ^a,c   Ma, Xiaojing ^a,c   Chen, Long ^b   Ma, Duan ^b,c   Huang, Guoying ^a,c  

^a CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

^c Shanghai Key Laboratory of Birth Defects   (China)

Author keywords

Congenital heart defect candidate genes; DNA methylation; Tetralogy of Fallot

Indexed keywords

CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CPG ISLANDS; DNA METHYLATION; FEMALE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; PROMOTER REGIONS, GENETIC; REPRODUCIBILITY OF RESULTS; RNA, MESSENGER; TETRALOGY OF FALLOT; TRANSCRIPTION INITIATION SITE;

EID: 84893160260     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/1479-5876-12-31     Document Type: Article

References (43)

1. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002, 39:1890-1900. 10.1016/S0735-1097(02)01886-7, 12084585.
2. Hoffman JI. Incidence of congenital heart disease: II. prenatal incidence. Pediatr Cardiol 1995, 16:155-165.
3. Child JS. Fallot's tetralogy and pregnancy: prognostication and prophesy. J Am Coll Cardiol 2004, 44:181-183. 10.1016/j.jacc.2004.04.009, 15234430.
4. Bedard E, McCarthy KP, Dimopoulos K, Giannakoulas G, Gatzoulis MA, Ho SY. Structural abnormalities of the pulmonary trunk in tetralogy of Fallot and potential clinical implications: a morphological study. J Am Coll Cardiol 2009, 54:1883-1890. 10.1016/j.jacc.2009.06.040, 19892240.
5. Ho S, McCarthy KP, Josen M, Rigby ML. Anatomic-echocardiographic correlates: an introduction to normal and congenitally malformed hearts. Heart 2001, 86(Suppl 2):II3-II11. 1766550, 11709529.
6. Ward C, Stadt H, Hutson M, Kirby ML. Ablation of the secondary heart field leads to tetralogy of Fallot and pulmonary atresia. Dev Biol 2005, 284:72-83. 10.1016/j.ydbio.2005.05.003, 15950213.
7. Starr JP. Tetralogy of fallot: yesterday and today. World J Surg 2010, 34:658-668. 10.1007/s00268-009-0296-8, 20091166.
8. di Felice V, Zummo G. Tetralogy of Fallot as a model to study cardiac progenitor cell migration and differentiation during heart development. Trends Cardiovasc Med 2009, 19:130-135. 10.1016/j.tcm.2009.07.004, 19818949.
9. Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jalal SM, Michels VV. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol 2005, 45:595-598. 10.1016/j.jacc.2004.10.056, 15708709.
10. Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC. Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. Hum Mol Genet 2001, 10:163-169. 10.1093/hmg/10.2.163, 11152664.
11. Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, et al. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat 2010, 31:594-601. 10.1002/humu.21231, 2914103, 20437614.
12. Goldmuntz E, Geiger E, Benson DW. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 2001, 104:2565-2568. 10.1161/hc4601.098427, 11714651.
13. Salazar M, Consoli F, Villegas V, Caicedo V, Maddaloni V, Daniele P, Caianiello G, Pachon S, Nunez F, Limongelli G, et al. Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects. Eur J Med Genet 2011, 54:306-309. 10.1016/j.ejmg.2011.01.004, 21276881.
14. de Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, de Zorzi A, Versacci P, Digilio MC, et al. New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Clin Genet 2011, 80:184-190. 10.1111/j.1399-0004.2010.01523.x, 20807224.
15. Portela A, Esteller M. Epigenetic modifications and human disease. Nat Biotechnol 2010, 28:1057-1068. 10.1038/nbt.1685, 20944598.
16. Goll MG, Bestor TH. Eukaryotic cytosine methyltransferases. Annu Rev Biochem 2005, 74:481-514. 10.1146/annurev.biochem.74.010904.153721, 15952895.
17. Vanderkraats ND, Hiken JF, Decker KF, Edwards JR. Discovering high-resolution patterns of differential DNA methylation that correlate with gene expression changes. Nucleic Acids Res 2013, 41:6816-6827. 10.1093/nar/gkt482, 3737560, 23748561.
18. Irizarry RA, Ladd-Acosta C, Wen B, Wu ZJ, Montano C, Onyango P, Cui HM, Gabo K, Rongione M, Webster M, et al. The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores. Nat Genet 2009, 41:178-186. 10.1038/ng.298, 2729128, 19151715.
19. Doi A, Park IH, Wen B, Murakami P, Aryee MJ, Irizarry R, Herb B, Ladd-Acosta C, Rho J, Loewer S, et al. Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts. Nat Genet 2009, 41:1350-1353. 10.1038/ng.471, 2958040, 19881528.
20. Baccarelli A, Rienstra M, Benjamin EJ. Cardiovascular epigenetics: basic concepts and results from animal and human studies. Circ Cardiovasc Genet 2010, 3:567-573. 3030456, 21156932.
21. Costello JF, Fruhwald MC, Smiraglia DJ, Rush LJ, Robertson GP, Gao X, Wright FA, Feramisco JD, Peltomaki P, Lang JC, et al. Aberrant CpG-island methylation has non-random and tumour-type-specific patterns. Nat Genet 2000, 24:132-138. 10.1038/72785, 10655057.
22. Zhang C, Li Z, Cheng Y, Jia F, Li R, Wu M, Li K, Wei L. CpG island methylator phenotype association with elevated serum alpha-fetoprotein level in hepatocellular carcinoma. Clin Cancer Res 2007, 13:944-952. 10.1158/1078-0432.CCR-06-2268, 17289889.
23. Sheng W, Wang H, Ma X, Qian Y, Zhang P, Wu Y, Zheng F, Chen L, Huang G, Ma D. LINE-1 methylation status and its association with tetralogy of fallot in infants. BMC Med Genomics 2012, 5:20. 10.1186/1755-8794-5-20, 3408368, 22672592.
24. Chowdhury S, Erickson SW, MacLeod SL, Cleves MA, Hu P, Karim MA, Hobbs CA. Maternal genome-wide DNA methylation patterns and congenital heart defects. PLoS One 2011, 6:e16506. 10.1371/journal.pone.0016506, 3031146, 21297937.
25. Lammer EJ, Chak JS, Iovannisci DM, Schultz K, Osoegawa K, Yang W, Carmichael SL, Shaw GM. Chromosomal abnormalities among children born with conotruncal cardiac defects. Birth Defects Res A Clin Mol Teratol 2009, 85:30-35. 10.1002/bdra.20541, 2856481, 19067405.
26. Ollikainen M, Smith KR, Joo EJ, Ng HK, Andronikos R, Novakovic B, Abdul Aziz NK, Carlin JB, Morley R, Saffery R, Craig JM. DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome. Hum Mol Genet 2010, 19:4176-4188. 10.1093/hmg/ddq336, 20699328.
27. Yagi S, Hirabayashi K, Sato S, Li W, Takahashi Y, Hirakawa T, Wu G, Hattori N, Ohgane J, Tanaka S, et al. DNA methylation profile of tissue-dependent and differentially methylated regions (T-DMRs) in mouse promoter regions demonstrating tissue-specific gene expression. Genome Res 2008, 18:1969-1978. 10.1101/gr.074070.107, 2593572, 18971312.
28. Zhang T, Wang L, Wang F, Guan J, Le J, Wu LH, Zou JZ, Zhao HZ, Pei LJ, Zheng XY. Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects. Am J Clin Nutr 2010, 91:1359-1367. 10.3945/ajcn.2009.28858, 20164316.
29. Ehrich M, Nelson MR, Stanssens P, Zabeau M, Liloglou T, Xinarianos G, Cantor CR, Field JK, van den Boom D. Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry. Proc Natl Acad Sci U S A 2005, 102:15785-15790. 10.1073/pnas.0507816102, 1276092, 16243968.
30. Ehrich M, Turner J, Gibbs P, Lipton L, Giovanneti M, Cantor C, van den Boom D. Cytosine methylation profiling of cancer cell lines. Proc Natl Acad Sci U S A 2008, 105:4844-4849. 10.1073/pnas.0712251105, 2290817, 18353987.
31. McBride KL, Zender GA, Fitzgerald-Butt SM, Seagraves NJ, Fernbach SD, Zapata G, Lewin M, Towbin JA, Belmont JW. Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. Birth Defects Res A Clin Mol Teratol 2011, 91:162-168. 10.1002/bdra.20764, 3736588, 21290564.
32. Shen W, Han D, Zhang J, Zhao H, Feng H. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. Am J Med Genet A 2011, 155A:2131-2136.
33. Bourajjaj M, Armand AS, da Costa Martins PA, Weijts B, van der Nagel R, Heeneman S, Wehrens XH, De Windt LJ. NFATc2 is a necessary mediator of calcineurin-dependent cardiac hypertrophy and heart failure. J Biol Chem 2008, 283:22295-22303. 10.1074/jbc.M801296200, 18477567.
34. Nakamura E, Makita Y, Okamoto T, Nagaya K, Hayashi T, Sugimoto M, Manabe H, Taketazu G, Kajino H, Fujieda K. 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. Eur J Med Genet 2011, 54:354-356. 10.1016/j.ejmg.2010.12.004, 21172461.
35. Smemo S, Campos LC, Moskowitz IP, Krieger JE, Pereira AC, Nobrega MA. Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum Mol Genet 2012, 21:3255-3263. 10.1093/hmg/dds165, 3384386, 22543974.
36. Wang B, Wang J, Liu S, Han X, Xie X, Tao Y, Yan J, Ma X. CFC1 mutations in Chinese children with congenital heart disease. Int J Cardiol 2011, 146:86-88. 10.1016/j.ijcard.2009.07.034, 19853937.
37. Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, et al. A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. Eur J Hum Genet 2013, 21:69-75. 10.1038/ejhg.2012.109, 3533258, 22713807.
38. Weisenberger DJ, Siegmund KD, Campan M, Young J, Long TI, Faasse MA, Kang GH, Widschwendter M, Weener D, Buchanan D, et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet 2006, 38:787-793. 10.1038/ng1834, 16804544.
39. Karpinski P, Walter M, Szmida E, Ramsey D, Misiak B, Kozlowska J, Bebenek M, Grzebieniak Z, Blin N, Laczmanski L, Sasiadek MM. Intermediate- and low-methylation epigenotypes do not correspond to CpG island methylator phenotype (low and -zero) in colorectal cancer. Cancer Epidemiol Biomarkers Prev 2013, 22:201-208. 10.1158/1055-9965.EPI-12-0157, 23175427.
40. Fu T, Pappou EP, Guzzetta AA, Jeschke J, Kwak R, Dave P, Hooker CM, Morgan R, Baylin SB, Iacobuzio-Donahue CA, et al. CpG island methylator phenotype-positive tumors in the absence of MLH1 methylation constitute a distinct subset of duodenal adenocarcinomas and are associated with poor prognosis. Clin Cancer Res 2012, 18:4743-4752. 10.1158/1078-0432.CCR-12-0707, 3482463, 22825585.
41. Kuroda A, Rauch TA, Todorov I, Ku HT, Al-Abdullah IH, Kandeel F, Mullen Y, Pfeifer GP, Ferreri K. Insulin gene expression is regulated by DNA methylation. PLoS One 2009, 4:e6953. 10.1371/journal.pone.0006953, 2735004, 19742322.
42. Cao YX, Jean JC, Williams MC. Cytosine methylation of an Sp1 site contributes to organ-specific and cell-specific regulation of expression of the lung epithelial gene t1alpha. Biochem J 2000, 350(Pt 3):883-890. 1221323, 10970805.
43. Petkova TD, Seigel GM, Otteson DC. A role for DNA methylation in regulation of EphA5 receptor expression in the mouse retina. Vision Res 2011, 51:260-268. 10.1016/j.visres.2010.09.022, 3024446, 20875442.