Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models

American Journal of Medical Genetics

Volumn 73, Issue 3, 1997, Pages 337-344

  Maestri, Nancy E ^a,b   Beaty, Terri H ^b   Hetmanski, Jacqueline ^b   Smith, E Anne ^a   McIntosh, Iain ^a,c   Wyszynski, Diego F ^b,c   Liang, Kung Yee ^b   Duffy, David L ^d   Vanderkolk, Craig ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

Birth defects; Linkage; Smoking; TGFA; TGFB3

Indexed keywords

PROTEIN BCL 3; RETINOIC ACID RECEPTOR; TRANSFORMING GROWTH FACTOR ALPHA; TRANSFORMING GROWTH FACTOR BETA3; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BIRTH DEFECT; GENE LINKAGE DISEQUILIBRIUM; GENETIC LINKAGE; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTO ONCOGENE; SMOKING;

CLEFT LIP; CLEFT PALATE; ENVIRONMENTAL EXPOSURE; GENETIC MARKERS; GENOTYPE; HUMANS; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; LOGISTIC MODELS; MODELS, GENETIC; PROTO-ONCOGENE PROTEINS; RECEPTORS, RETINOIC ACID; TRANSCRIPTION FACTORS; TRANSFORMING GROWTH FACTOR ALPHA;

EID: 0030671069     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971219)73:3<337::AID-AJMG21>3.0.CO;2-J     Document Type: Article

References (41)

1. 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.
2. Beaty TH, Maestri NE, Hetmanski JB, Wyszynski DF, VanderKolk C, Simpson JC, McIntosh I, Smith EA, Zeiger JS, Raymond GV, Panny SR, Tifft CJ, Lewanda AF, Cristion CA, Wulfsberg EA. (1997): The Mid-Atlantic oral clefts study: The genetic epidemiology of oral clefts. Cleft Palate-Craniofacial J. 34:447-454.
3. Beiraghi S, Foroud T, Diouhy S, Bixler D, Conneally PM, Delozier-Blanchet D, Hodes ME (1994): Possible location of a major gene for cleft lip and palate to 4q. Clin Genet 46:255-256.
4. Bickeboller H, Clerget-Darpoux F (1995): Statistical properties of the allelic and genotypic transmission/disequilibrium test for multiallelic markers. Genet Epidemiol 12:865-870.
5. Carinci F, Pezzetti F, Scapoli L, Padula E, Baciliero U, Curioni C, Tognon M (1995): Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23. Am J Hum Genet 56:337-339.
6. 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.
7. Cruts M, Backhovens H, Theuns J, Clark RF, LePaslier D, Weissenbach J, Goate AM, Martin JJ, Van Broeckhoven C (1995): Genetic and physical characterization of the early-onset Alzheimer's disease Ab3 locus on chromosome 14q24.3. Hum Mol Genet 4:1355-1364.
8. Damm K, Heyman RA, Umesono K, Evans RM (1993): Functional inhibition of retinoic acid response by dominant negative retinoic acid receptor mutants. Proc Natl Acad Sci USA 909:2989-2993.
9. Duffy DL (1995): Screening a 2 cM genetic map for allelic association: A simulated oligogenic trait. Genet Epidemiol 12:595-600.
10. Duffy DL (1996): SIB-PAIR, version 0.93 (Computer program). Baltimore.
11. Eiberg H, Bixler D, Nielsen LS, Conneally PM, John J (1987): Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet 32:129-132.
12. Farrall M, Holder S (1992): Familial recurrence-pattern analysis of cleft lip with or without cleft palate. Am J Hum Genet 50:270-277.
13. Feng H, Sassani R, Bartlett SP, Lee A, Hecht J, Malcolm S, Winter RM, Vintiner GM, Buetow KH, Gasser DL (1994): Evidence from family studies for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate. Am J Hum Genet 55: 932-936.
14. FitzPatrick D, Farrall M (1993): An estimation of the number of susceptibility loci for isolated cleft palate. J Craniofac Genet Dev Biol 13:230-235.
15. Hecht JT, Want Y, 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.
16. Hwang S-J, 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.
17. Juriloff DM, Nah DG (1995): The major locus for multifactorial nonsyndromic cleft lip maps to mouse chromosome 11. Mammal Genome 6: 63-69.
18. Kaartinen V, Voncken JW, Shuler C, Warburton D, Bu D, Heisterkamp N, Groffen J (1995): Abnormal lung development and cleft palate in mice lacking TGFβ3 indicates defects of epitheliala-mesenchymal interaction. Nat Genet 11:415-421.
19. Kallen K (1997): Maternal smoking and oral clefts. Cleft Palate-Craniofac J 34:11-16.
20. Kaplan NL, Martin ER, Weir BS (1997): Power studies for the transmission/ disequilibrium tests with multiple alleles. Am J Hum Genet 60: 691-702.
21. Lidral AC, Leysens N, Basart A, Machida J, Daack-Hirsch S, Leysens M, Romitti P, Buetow KH, Murray J (1996): Genetic evidence for an etiologic role for TGFB3 and MSX1 in nonsyndromic cleft lip and palate. Am J Hum Genet 59S:A141.
22. Mitchell LE, Risch N (1992): Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: A reanalysis. Am J Hum Genet 51:323-332.
23. Mitchell LE, Healey SC, Chenevix-Trench G (1995): Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4. Am J Hum Genet 57:1130-1136.
24. Mitchell LE (1997): Transforming growth factor α locus and nonsyndromic cleft lip with or without cleft palate: A reappraisal. Genet Epidem 14:231-240.
25. Murray JC, Buetow KH, Weber JL, Scherpbier-Heddema T, Manion F, Quillen J, Scheffield VC, Sunden S, Duyk GM; Genethon: Weissenbach J, Gyapay G, Dib C, Morrissette J, Lathrop GM, Plaetke R, Odelberg S; Yale University: Ward D; Centre d'Etude du Polymorphisme Humain (CEPH): Dausset J, Cohen D, Cann H (1994): A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science 265:2049-2054.
26. Proetzel G, Pawlowski SA, Wiles MV, Yin MY, Boivin GP, Howles PN, Ding JX, Ferguson MW, Doetschman T (1995): Transforming growth factor-beta-3 is required for secondary palate fusion. Nat Genet 11:409-414.
27. Rice JP, Neuman RJ, Hoshaw SL, Daw EW, Gu C (1995): TDT with covariates and genomic screens with mod scores: Their behavior on simulated data. Genet Epidemiol 12: 659-664.
28. Sayetta RB, Weinrich MC, Coston GN (1989): Incidence and prevalence of cleft lip and palate: What we think we know. Cleft Palate J 26:242-247.
29. Sham PC, Curtis D (1995): An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 59:323-336.
30. Shaw D, Ray A, Marazita M, Field L (1993): Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL± P). Am J Hum Genet 53:1156-1157.
31. Shaw GM, 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. Am J Hum Genet 58:551-561.
32. Spielman RS, McGinnis RE, Evans WJ (1993): Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus. Am J Hum Genet 57:257-272.
33. Spielman RS, Ewens WJ (1996): Invited editorial: The TDT and other family-based tests for linkage disequilibrium. Am J Hum Genet 59: 983-989.
34. Stein J, Mulliken JB, Stal S, Gasser DL, Malcolm S, Winter R, Blanton SH, Amos C, Seemanova E, Hecht JT (1995): Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families. Am J Hum Genet 57:257-272.
35. Studer M, Popperl H, Marshall H, Kuroiwa A, Krumlauf R (1994): Role of a conserved retinoic acid response element in rhombomere restriction of Hoxb-1. Science 265:1728-1732.
36. Vanderas AP (1987): Incidence of cleft lip, cleft palate and cleft lip and palate among races: a review. Cleft Palate J 24:216-225.
37. Vintiner GM, Holder SE, Winter RM, Malcolm 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.
38. Wyszynski DF, Beaty TH, Maestri NE (1996): Genetics of non-syndromic oral clefts revisited. Cleft Palate-Craniofacial J 33:406-417.
39. Wyszynski DF, Beaty TH (1996): Review of the role of potential teratogens in the origin of human non-syndromic oral clefts. Teratology 53:309-317.
40. Wyszynski DF, Maestri NE, 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 nonsyndromic cleft lip with or without cleft palate in two groups of multiplex families. Hum Genet 99:22-26.
41. 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 (TGFα) locus in two populations. Hum Hered 47:101-109.