Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: Evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts

Teratology

Volumn 59, Issue 1, 1999, Pages 39-50

  Romitti, Paula ^a,b   Lidral, Andrew C ^b   Munger, Ronald G ^b   Daack Hirsch, Sandra ^a   Burns, Trudy L ^b   Murray, Jeffrey C ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL; TRANSFORMING GROWTH FACTOR ALPHA; TRANSFORMING GROWTH FACTOR BETA3;

ADULT; ALCOHOL CONSUMPTION; ALLELE; ARTICLE; CASE CONTROL STUDY; CIGARETTE SMOKING; CLEFT LIP PALATE; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; FEMALE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HOMEOBOX; HUMAN; MAJOR CLINICAL STUDY; PRENATAL EXPOSURE; PRIORITY JOURNAL;

ALCOHOL DRINKING; CASE-CONTROL STUDIES; CLEFT LIP; CLEFT PALATE; DEMOGRAPHY; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; PREGNANCY; RISK FACTORS; SMOKING;

EID: 0032989710     PISSN: 00403709     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-9926(199901)59:1<39::AID-TERA9>3.0.CO;2-7     Document Type: Article

References (63)

1. Abell TD, Baker LC, Ramsey CN Jr. 1991. The effects of maternal smoking on infant birth weight. Fam Med 23:103-107.
2. Alderman BW, Takahashi ER, LeMier MK. 1991. Risk indicators for talipes equinovarus in Washington State, 1987-1989. Epidemiology 2:289-292.
3. Ardinger HH, Buetow KH, Bell GI, Bardach J, VanDemark DR, Murray JC. 1989. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet 45:348-353.
4. Bailey LJ, Johnston MC, Billet J. 1995. Effects of carbon monoxide and hypoxia on cleft lip in A/J mice. Cleft Palate Craniofac J 32:14-19.
5. Bannon M, Halliday HL, McMaster D. 1986. Glutathione peroxidase activity in cord blood: Effects of fetal sex and maternal smoking. Biol Neonate 50:274-277.
6. Beaty TH, Maestri NE, Hetmanski JB, Wyszynski DF, Vanderkolk CA, Simpson JC, McIntosh I, Smith EA, Zeiger JS, Raymond GV, Panny SR, Tifft CJ, Lewanda AF, Cristion CA, Wulfsberg EA. 1997. Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996. Cleft Palate Craniofac J 34:447-454.
7. Bremme K, Lagerström M, Andersson O, Johansson S, Eneroth P. 1990. Influences of maternal smoking and fetal sex on maternal serum oestriol, prolactin, hCG, and hPl levels. Arch Gynecol Obstet 247:95-103.
8. Bronsky PT, Johnston MC, Sulik KK. 1986. Morphogenesis of hypoxiainduced cleft lip in CL/Fr mice. J Craniofac Genet Dev Biol [Suppl] 2:113-128.
9. Brunet CL, Sharpe PM, Ferguson MWJ. 1995. Inhibition of TGF-β (but not TGF-β1 or TGF-β2) activity prevents normal mouse embryonic palate fusion. Int J Dev Biol 39:345-355.
10. Caporaso N, Hayes RB, Dosemeci M, Hoover R, Ayesh R, Hetzel M, Idle J. 1989. Lung cancer risk, occupational exposure, and the debrisoquine metabolic phenotype. Cancer Res 49:3675-3679.
11. Cartwright MM, Smith SM. 1995. Increased cell death and reduced neural crest cell numbers in ethanol-exposed embryos: Partial basis for the fetal alcohol syndrome phenotype. Alcohol Clin Exp Res 19:378-386.
12. Chen SY, Sulik KK. 1996. Free radicals and ethanol-induced cytotoxicity in neural crest cells. Alcohol Clin Exp Res 20:1071-1076.
13. Chen SY, Yang B, Jacobson K, Sulik KK. 1996. The membrane disordering effect of ethanol on neural crest cells in vitro and the protective role of GM1 ganglioside. Alcohol 13:589-595.
14. Chenevix-Trench G, Jones K, Green A, Martin N. 1991. Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate [letter]. Am J Hum Genet 48:1012-1013.
15. Chenevix-Trench G, Jones K, Green AC, Duffy DL, Martin NG. 1992. Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci. Am J Hum Genet 51:1377-1385.
16. Chernoff N. 1973. Teratogenic effects of cadmium in rats. Teratology 8:29-32.
17. Christensen K, Olsen J, Nørgaard-Pedersen B, Basso O, Stoøvring H, Milhollin-Johnson L, Murray JC. Oral clefts, transforming growth factor-alpha gene variants, and maternal smoking. A population based case-control study in Denmark 1991-1994. (in press).
18. Dixon MJ, Garner J, Ferguson MWJ. 1991. Immunolocalisation of epidermal growth factor (EGF), EGF receptor and transforming growth factor alpha (TGFA) during murine palatogenesis in vivo and in vitro. Anat Embryol (Berl) 184:83-91.
19. Farrall M, Buetow KH, Murray JC. 1993. Resolving an apparent paradox concerning the role of TGFA in CL/P [letter]. Am J Hum Genet 52:434-436.
20. Ferm VH. 1971. Developmental malformation induced by cadmium. A study of timed injections during embryogenesis. Biol Neonate 19:101-107.
21. Fogh-Andersen P. 1942. Inheritance of harelip and cleft palate. Copenhagen: Arnold Busck.
22. Hecht JT, Wang YP, Blanton SH, Michels VV, Daiger SP. 1991. Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am J Hum Genet 49:682-686.
23. Holder, SE, Vintiner GM, Farren B, Malcolm S, Winter RM. 1992. Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. J Med Genet 29:390-392.
24. Hwang SJ, Beaty TH, Panny SR, Street NA, Joseph JM, Gordon S, McIntosh I, Francomano CA. 1995. Association study of transforming growth factor alpha (TGFα) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. Am J Epidemiol 141:629-636.
25. Johnston C. 1981. Cigarette smoking and the outcome of human pregnancies: A status report on the consequences. Clin Toxicol 18:189-209.
26. Kaartinen V, Voncken JW, Shuler C, Warburton D, Bu D, Heisterkamp N, Groffen J. 1995. Abnormal lung development and cleft palate in mice lacking TGF-β3 indicates defects of epithelial-mesenchymal interaction. Nat Genet 11:415-421.
27. Kaji T, Ohkawara S, Yamamoto C, Sakamoto M, Kozuka H. 1994. Transforming growth factor beta-induced tolerance to cadmium cytotoxicity in cultured vascular endothelial cells. Toxicology 8:69-79.
28. Khoury MJ, Adams MJ Jr, Flanders WD. 1988. An epidemiologic approach to ecogenetics. Am J Hum Genet 42:89-95.
29. Kotch LE, Sulik KK. 1992. Experimental fetal alcohol syndrome: proposed pathogenic basis for a variety of associated facial and brain anomalies. Am J Med Genet 44:168-176.
30. Lidral AC, Romitti PA, Basart A, Doetschman T, Leysens N, Daack-Hirsch S, Semina E, Johnson L, Machida J, Burds A, Parnell T, Rubenstein JLR, Murray JC. 1998. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 63:557-568.
31. Luetteke NC, Qiu TH, Peiffer RL, Oliver P, Smithies O, Lee DC. 1993. TGFalpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 73:263-278.
32. Maestri NE, Beaty TH, Hetmanski J, Smith EA, McIntosh I, Wyszynski DF, Liang KY, Duffy DL, VanderKolk C. 1997. Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models. Am J Med Genet 73:337-344.
33. Mann GB, Fowler KJ, Gabriel A, Nice EC, Williams RL, Dunn AR. 1993. Mice with a null mutation of the TGFalpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation. Cell 73:249-261.
34. Massagué J. 1990. The transforming growth factor-β family. Annu Rev Cell Biol 6:597-641.
35. Miller HC, Jekel JF. 1989. The epidemiology of white full-term infants with short crown-heel lengths for gestational ages at birth. Yale J Biol Med 62:1-12.
36. Munger RG, Romitti PA, Daack-Hirsch S, Burns TL, Murray JC, Hanson J. 1996. Maternal alcohol use and risk of orofacial cleft birth defects. Teratology 54:27-33.
37. Murray JC. 1995. Face facts: Genes, environment and clefts. Am J Hum Genet 57:227-232.
38. Niebyl JR, Blake DA, Rocco LE, Baumgardner R, Mellits ED. 1985. Lack of maternal metabolic, endocrine, and environmental influences in the etiology of cleft lip with or without cleft palate. Cleft Palate J 22:20-28.
39. Proetzel G, Pawlowski SA, Wiles MV, Yin M, Boivin GP, Howles PN, Ding J, Ferguson MWJ, Doetschman T. 1995. Transforming growth factor-β3 is required for secondary palate fusion. Nat Genet 11:409-414.
40. Romitti PA, Munger RG, Murray JC, Daack-Hirsch S, Hanson JW, Burns TL. 1998. The effect of follow-up on limiting non-participation bias in genetic epidemiologic investigations. Eur J Epidemiol 14:129-138.
41. Saad AY, Gartner LP, Hiatt JL. 1990-1991. Teratogenic effects of nicotine on palate formation in mice. Biol Struct Morphog 3:31-35.
42. Sadler TW. 1995. Langman's medical embryology, 7th ed. Baltimore: Williams and Wilkins.
43. SAS Institute, Inc. 1989. SAS/STAT user's guide, version 6, 4th ed. Cary, NC: SAS Institute, Inc.
44. Sassani R, Bartlett SP, Feng H, Goldner-Sauve A, Haq AK, Buetow KH, Gasser DL. 1993. Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip. Am J Med Genet 45:565-569.
45. Satokata I, Maas R. 1994. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6:348-356.
46. Selvin S. 1996. Statistical analysis of epidemiologic data, 2nd ed. New York: Oxford University Press.
47. Shaw G. Wasserman CR, Lammer EJ. O'Malley CD, Murray JC, Basart AM, Tolarova MM. 1996. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Am J Hum Genet 58:551-561.
48. Shiang R, Lidral AC, Ardinger HH, Buetow KH, Romitti PA, Munger RG. Murray JC. 1993. Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). Am J Hum Genet 53:836-843.
49. Spielman RS, McGinnis RE, Ewens WJ. 1993. Transmission test for linkage disequilibrium: The insulin gene region and insulindependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516.
50. Spinillo A, Capuzzo E, Nicola SE, Colonna L, Egbe TO, Zara C. 1994. Factors potentiating the smoking-related risk of fetal growth retardation. Br J Obstet Gynaecol 101:954-958.
51. Stoll C, Qian JF, Feingold J, Sauvage P, May E. 1993. Genetic variation in transforming growth factor alpha: Possible association of BamHI polymorphism with bilateral sporadic cleft lip and palate. Hum Genet 92:81-82.
52. Swan SH, Shaw GM, Schulman J. 1992. Reporting and selection bias in case-control studies of congenital malformations. Epidemiology 3:356-363.
53. Trasler DG, Rearden CA, Rajchgot H. 1978. A selection experiment for distinct types of 6-amnionicotinamide-induced cleft lip in mice. Teratology 18:49-54.
54. Umapathysivam K, Haskard KA, Meffin E, Jones WR. 1990. Correlation of umbilical cord whole blood viscosity and the presence of fetal distress at birth: a mathematical modelling study. Aust NZJ Obstet Gynaecol 30:71-73.
55. Vanderas AP. 1987. Incidence of cleft lip, cleft palate, and cleft lip and palate among races: A review. Cleft Palate J 24:216-225.
56. Verkerk PH, Buitendijk SE, Verloove-Vanhorick SP. 1994. Differential misclassification of alcohol and cigarette consumption by pregnancy outcome. Int J Epidemiol 23:1218-1225.
57. Vintiner GM, Holder SE, Winter RM, Malcom S. 1992. No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. J Med Genet 29:393-397.
58. Wajner M, Papiha SS, Wagstaff TJ. 1986. Relationship between some obstetric landmarks and the concentration of alpha-fetoprotein in maternal blood. J Perinat Med 14:115-121.
59. Werler MM, Lammer EJ, Rosenberg L, Mitchell AA. 1991. Maternal alcohol use in relation to selected birth defects. Am J Epidemiol 134:691-698.
60. Wertelecki W, Hoff C, Zansky S. 1987. Maternal smoking: greater effect on males, fetal tobacco syndrome? Teratology 35:317-320.
61. Wyszynski DF, Beaty TH, Maestri NE. 1996. Genetics of nonsyndromic oral clefts revisited. Cleft Palate Craniofac J 33:406-417.
62. Wyszynski DK, Maestri N, McIntosh I, Smith EA, Lewanda AF, Garcia-Delgado C, Vinageras-Guarneros E, Wulfsberg E, Beaty TH. 1997a. Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families. Hum Genet 99:22-26.
63. Wyszynski DF, Maestri N, Lewanda AF, McIntosh I, Smith EA, Garcia-Delgado C, Vinageras-Guarneros E, Wulfsberg E, Beaty TH. 1997b. No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations. Hum Hered 47:101-109.