Complex trait analysis of ventricular septal defects caused by Nkx2-5 mutation

Circulation: Cardiovascular Genetics

Volumn 5, Issue 3, 2012, Pages 293-300

  Winston, Julia B ^a   Schulkey, Claire E ^a   Chen, Iuan Bor D ^a   Regmi, Suk D ^a   Efimova, Maria ^a   Erlich, Jonathan M ^a   Green, Courtney A ^a   Aluko, Ashley ^a   Jay, Patrick Y ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital heart defects; Genetic modifier; Genetic variation; Maternal age; Nkx2 5

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5;

ANEUPLOIDY; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 10; CHROMOSOME 6; CHROMOSOME 8; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC CORRELATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; HEART VENTRICLE SEPTUM DEFECT; HEREDITY; HETEROZYGOSITY; INCIDENCE; MALE; MATERNAL AGE; MOUSE; MULTIVARIATE LOGISTIC REGRESSION ANALYSIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL;

ANEUPLOIDY; ANIMALS; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC LINKAGE; HEART SEPTAL DEFECTS, VENTRICULAR; HETEROZYGOTE; HOMEODOMAIN PROTEINS; LOGISTIC MODELS; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUTATION; POLYMORPHISM, GENETIC; RISK FACTORS; TRANSCRIPTION FACTORS;

ANIMALIA;

EID: 84864616478     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.111.961136     Document Type: Article

References (35)

1. Nora JJ. Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction. Circulation. 1968;38: 604-617.
2. Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. Clin Genet. 2010;78:103-123.
3. Benson DW. Genetic origins of pediatric heart disease. Pediatr Cardiol. 2009;31:422-429.
4. Moon A. Mouse models of congenital cardiovascular disease. Curr Top Dev Biol. 2008;84:171-248.
5. Horsthuis T, Christoffels VM, Anderson RH, Moorman AF. Can recent insights into cardiac development improve our understanding of congenitally malformed hearts? Clin Anat. 2009;22:4-20.
6. Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. 1999;104:1567-1573.
7. McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E. NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol. 2003;42:1650-1655.
8. Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science. 1998;281: 108-111.
9. Winston JB, Erlich JM, Green CA, Aluko A, Kaiser KA, Takematsu M, Barlow RS, Sureka AO, LaPage MJ, Janss LL, Jay PY. Heterogeneity of genetic modifiers ensures normal cardiac development. Circulation. 2010;121:1313-1321.
10. Tanaka M, Chen Z, Bartunkova S, Yamasaki N, Izumo S. The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development. 1999;126:1269-1280.
11. Broman KW, Sen S. A Guide to QTL Mapping with R/qtl. New York: Springer; 2009.
12. Sen S, Satagopan JM, Broman KW, Churchill GA. R/qtlDesign: inbred line cross experimental design. Mamm Genome. 2007;18:87-93.
13. He Y. Missing data analysis using multiple imputation: getting to the heart of the matter. Circ Cardiovasc Qual Outcomes. 2010;3:98-105.
14. Donders AR, van der Heijden GJ, Stijnen T, Moons KG. Review: a gentle introduction to imputation of missing values. J Clin Epidemiol. 2006;59: 1087-1091.
15. Shi T. CNV analysis using Sequenom MassARRAY: an R tutorial. https://www.mysequenom.com/Applications/Application-Updates- Typer.aspx?path-r-scripts. 2008.
16. Prall OW, Menon MK, Solloway MJ, Watanabe Y, Zaffran S, Bajolle F, Biben C, McBride JJ, Robertson BR, Chaulet H, Stennard FA, Wise N, Schaft D, Wolstein O, Furtado MB, Shiratori H, Chien KR, Hamada H, Black BL, Saga Y, Robertson EJ, Buckingham ME, Harvey RP. An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation. Cell. 2007;128:947-959.
17. Nimura K, Ura K, Shiratori H, Ikawa M, Okabe M, Schwartz RJ, Kaneda Y. A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf- Hirschhorn syndrome. Nature. 2009;460:287-291.
18. Dyer LA, Kirby ML. The role of secondary heart field in cardiac development. Dev Biol. 2009;336:137-144.
19. Yamagishi H, Yamagishi C, Nakagawa O, Harvey RP, Olson EN, Srivastava D. The combinatorial activities of Nkx2.5 and dHAND are essential for cardiac ventricle formation. Dev Biol. 2001;239:190-203.
20. Sabirzhanova I, Sabirzhanov B, Bjordahl J, Brandt J, Jay PY, Clark TG. Activation of Tolloid-like 1 gene expression by the cardiac specific homeobox gene Nkx2-5. Dev Growth Differ. 2009;51:403-410.
21. Clark TG, Conway SJ, Scott IC, Labosky PA, Winnier G, Bundy J, Hogan BL, Greenspan DS. The mammalian Tolloid-like 1 gene, Tll1, is necessary for normal septation and positioning of the heart. Development. 1999;126:2631-2642.
22. Bamforth SD, Braganca J, Eloranta JJ, Murdoch JN, Marques FI, Kranc KR, Farza H, Henderson DJ, Hurst HC, Bhattacharya S. Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. Nat Genet. 2001;29:469-474.
23. Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A. Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. Hum Mutat. 2005;26:575-582.
24. Sakata Y, Koibuchi N, Xiang F, Youngblood JM, Kamei CN, Chin MT. The spectrum of cardiovascular anomalies in CHF1/Hey2 deficient mice reveals roles in endocardial cushion, myocardial and vascular maturation. J Mol Cell Cardiol. 2006;40:267-273.
25. Zaghloul NA, Katsanis N. Functional modules, mutational load and human genetic disease. Trends Genet. 2010;26:168-176.
26. Webb S, Brown NA, Anderson RH. Formation of the atrioventricular septal structures in the normal mouse. Circ Res. 1998;82:645-656.
27. Forrester MB, Merz RD. Descriptive epidemiology of selected congenital heart defects, Hawaii, 1986-1999. Paediatr Perinat Epidemiol. 2004;18: 415-424.
28. Hollier LM, Leveno KJ, Kelly MA, McIntire DD, Cunningham FG. Maternal age and malformations in singleton births. Obstet Gynecol. 2000;96:701-706.
29. Kidd SA, Lancaster PA, McCredie RM. The incidence of congenital heart defects in the first year of life. J Paediatr Child Health. 1993;29: 344-349.
30. Materna-Kiryluk A, Wisniewska K, Badura-Stronka M, Mejnartowicz J, Wieckowska B, Balcar-Boroń A, Czerwionka-Szaflarska M, Gajewska E, Godula-Stuglik U, Krawczyński M, Limon J, Rusin J, Sawulicka- Oleszczuk H, Szwalkiewicz-Warowicka E, Walczak M, Latos-Bieleńska A.. Parental age as a risk factor for isolated congenital malformations in a Polish population. Paediatr Perinat Epidemiol. 2009;23:29-40.
31. Miller A, Riehle-Colarusso T, Siffel C, Frias JL, Correa A. Maternal age and prevalence of isolated congenital heart defects in an urban area of the United States. Am J Med Genet A. 2011;155A:2137-2145.
32. Pradat P, Francannet C, Harris JA, Robert E. The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations. Pediatr Cardiol. 2003;24: 195-221.
33. Reefhuis J, Honein MA. Maternal age and non-chromosomal birth defects, Atlanta-1968-2000: teenager or thirty-something, who is at risk? Birth Defects Res A Clin Mol Teratol. 2004;70:572-579.
34. Baird PA, Sadovnick AD, Yee IM. Maternal age and birth defects: a population study. Lancet. 1991;337:527-530.
35. Loane M, Dolk H, Morris JK. Maternal age-specific risk of nonchromosomal anomalies. BJOG. 2009;116:1111-1119.