Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families

Genetic Epidemiology

Volumn 23, Issue 4, 2002, Pages 364-374

  Gaspar, D A ^a   Matioli, S R ^a   Pavanello, R C ^a   Araujo B C ^b   Andre M ^a   Steman, S ^a   Otto, P A ^a   Passos Bueno, M R ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Hospital Municipal Infantil Menino Jesus   (Brazil)

Author keywords

BCL3 gene; Case parent trio design; Cleft palate; D19S178 marker; Haplotype analysis; Nonsyndromic cleft lip

Indexed keywords

MICROSATELLITE DNA;

ALLELE; ARTICLE; BRAZIL; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MARKER GENE; SEGREGATION DISTORTION;

ALLELES; BRAZIL; CHI-SQUARE DISTRIBUTION; CLEFT LIP; CLEFT PALATE; DNA; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); LOD SCORE; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; TRANSCRIPTION FACTORS;

EID: 18744384340     PISSN: 07410395     EISSN: None     Source Type: Journal    
DOI: 10.1002/gepi.10189     Document Type: Article

References (49)

1. Amos C, Gasser D, Hecht JT. 1996. Nonsyndromic cleft lip with or without cleft palate: New BCL3 information. Am J Hum Genet 59:743-4.
2. Arver B, Du Q, Chen J, Luo L, Lindblon A. 2000. Hereditary breast cancer: A review. Semin Cancer Biol 10:271-88.
3. Beaty TH, Maestri NE, Hetmanski JS, 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 J 34:447-54.
4. Beaty TH, Hetmanski JS, Zeiger JS, Fan YT, Liang KY, VanderKolk CA, McIntosh I. 2002. Testing candidate genes for nonsyndromic oral clefts using a case-parent trio design. Genet Epidemiol 22:1-11.
5. Carter CO. 1976. Genetics of common malformations. Br Med Bull 32:21-6.
6. Christensen K, Fogh-Andersen P. 1994. Etiological sub-groups in nonsyndromic isolated cleft palate. A genetic epidemiology study of 52 Danish birth cohorts. Clin Geneti 46:329-35.
7. Christensen K, Olsen J, Norgaard-Pedersen B, Basso O, Stovring H, Milhollin-Johnson L, Murray J. 1999. Oral clefts, transforming growth factor alpha gene variants, and maternal smoking: A population-based case-control study in Denmark, 1991-1994. Am J Epidemiol 149:248-55.
8. Chung CS, Bixler D, Watanabe T, Koguchi H, Fogh-Andersen P. 1986. Segregation analysis of cleft lip with or without cleft palate: A comparison of Danish and Japanese data. Am J Hum Genet 39:603-11.
9. Clayton DG, Jones H. 1999. Transmission/disequilibrium tests for extended marker haplotypes. Am J Hum Genet 65:1161-9.
10. Clementi M, Tenconi R, Collins A, Calzolari E, Milan M. 1995. Complex segregation analysis in a sample of consecutive newborns with cleft lip with or without cleft palate in Italy. Hum Hered 45:157-64.
11. Croen LA, Shaw GM, Wasserman CR, Tolarova MM. 1998. Racial and ethnic variation in the prevalence of orofacial clefts in California, 1983-1992. Am J Med Genet 79:42-7.
12. De-Paepe A. 1989. Dominantly inherited cleft lip and palate. J Med Genet 26:794.
13. Farral M, Holder S. 1992. Familial recurrence-pattern analysis of cleft lip with or without cleft palate. Am J Hum Genet 50:270-7.
14. Fraser FC. 1970. The genetics of cleft lip and palate. Am J Hum Genet 22:236.
15. Fraser FC. 1976. The multifactorial/threshold concept - Uses and misuses. Teratology 14:267-80.
16. George-Hyslop ST, Ohno H, Gusella JF, Mckeithan T. 1992. The BCL3 locus on chromosome 19 displays an informative microsatellite polimorphism. Nucleic Acids Res 20:927.
17. Guo SW, Thompson EA. 1992. A Monte Carlo method for combined segregation and linkage analysis. Am J Hum Genet 51:1111-26.
18. Maestri NE, Beaty TH, Hetmanski J, Smith EA, Mcintosh I, Wyszynski DF, Liang KY, Duffy DL, Vanderkolk C. 1997. Application of transmission disequilibrium test to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models. Am J Med Genet 73:337-44.
19. Marazita ML, Hu DN, Spence MA, Liu YE, Melnick M. 1992. Cleft lip with or without cleft palate in Shanghai, China: Evidence for an autosomal major locus. Am J Hum Genet 51:648-53.
20. Martinelli M, Scapoli L, Pezzetti F, Carinci F, Carinci P, Baciliero U, Padula E, Tognon M. 1998. Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation. Genomics 51:177-81.
21. Miller AS, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extrating DNA from human nucleated cells. Nucleic Acids Res 16:1215.
22. Mitchell LE, Cristensen K. 1996. Analysis of the recurrence pattern for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands. Am J Med Genet 61:371-6.
23. Mitchell LE, Risch N. 1992. Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: A reanalysis. Am J Hum Genet 51:323-32.
24. Murray JC. 2002. Gene/environmental causes of cleft lip and/or palate. Clin Genet 61:248-56.
25. Murray JC, Buetow KH, Weber JL, Scherpbier-Heddemat, Manion F, Quillen J, Scheffield VC, Sunden S, Duyk GM, 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 (CHCL). Science 265:2049-54.
26. Murray JC, Daack-Hirsch S, Buetow KH, Munger R, Espina L, Paglinawan N, Villanueva E, Rary J, Magee K, Magee W. 1997. Clinical and epidemiological studies of cleft lip and palate in the Philippines. Cleft Palate Craniofac J 34:7-10.
27. Owens JR, Jones JW, Harris F. 1985. Epidemiology of facial clefting. Arch Dis Child 60:521-4.
28. Prescott NJ, Lees MM, Winter RM, Malcolm S. 2000. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sibpairs. Hum Genet 106:345-50.
29. Prescott NJ, Winter RM, Malcolm S. 2001. Nonsyndromic cleft lip and palate: Complex genetics and environmental effects. Ann Hum Genet 65:505-15.
30. Ray AK, Field LL, Marazita ML. 1993. Nonsyndromic cleft lip with or without cleft palate in West Bengal, India: Evidence for an autosomal major locus. Am J Hum Genet 52:1006-11.
31. Richards B, Skolesky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW. 1993. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 2:159-63.
32. Rienzo AD, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB. 1994. Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci USA 91:3166-70.
33. Risch N. 2001. The genetic epidemiology of cancer: Interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol Biomarckers Prev 10:733-41.
34. Romitti P, Lidral A, Munger R, Daack-Hirsch S, Burns T, Murray J. 1999. Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: Evaluation of genotype - Environmental interactions from a population-based case-control study of orofacial clefts. Teratology 59:39-50.
35. Schaid DJ. 1996. General score tests for associations of genetic markers with disease using cases and their parents. Genetic Epidemiol 13:423-49.
36. Schneider S, Roessli D, Excoffier L. 2000. Arlequin: A Software for Population Genetics Data Analysis. Geneva: Genetics and Biometry Laboratory, Department of Anthropology, University of Geneva.
37. Shaw GM, Wasserman CR, Lammer EJ, O'Malley CD, Murray JC, Basart M, Tolarova MM. 1996. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Am J Hum Genet 58:551-61.
38. Slatkin M. 1994. Linkage disequilibrium in growing and stable populations. Genetics 137:331-6.
39. Spielman RS, Ewens WJ. 1996. The TDT and other family-based test for linkage disequilibrium and association. Am J Hum Genet 59:983-9.
40. Spielman RS, MacGinnis RE, Ewens WJ. 1993. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-16.
41. Stein J, Mulliken JB, Stal S, Gasser DL, Malcolm S, Winter R, Blanton SH, Amos C, Seemanova E, Hecht J. 1995. Nonsyndromic cleft lip with or without cleft palate: Evidencce of linkage to BCL3 in 17 multigenerational families. Am J Hum Genet 57:257-72.
42. Temple K, Calvert M, Plint D, Thompson E, Pembrey M. 1989. Dominantly inherited cleft lip and palate in two families. J Med Genetics 26:386-9.
43. Templeton AR. 1995. A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping or DNA sequencing. V. Analysis of case/control sampling designs: Alzheimer's disease and the apoprotein E locus. Genetics 140:403-9.
44. Tolarova MM. 1987. A study of the incidence, sex ratio, laterality and clinical severity in 3,660 probands with facial clefts in Czechoslovakia. Acta Chir Plast 29:77-87.
45. Tolarova MM, Cervenka J. 1998. Classification and birth prevalence of orofacial clefts. Am J Med Genet 75:126-37.
46. Vanderas AP. 1987. Incidence of cleft lip, cleft palate, and cleft lip and palate among races: A review. Cleft Palate J 24:216-25.
47. Wysznski DF, Beaty TH. 1996. Review of the role of potential teratogens in the origin of human nonsyndromic oral clefts. Teratology 53:309-17.
48. Wyszynski DF, Maestri N, Mcintosh I, Smith EA, Lewanda AF, Garcia-Delgado C, Vinageras-Guarneros E, Wulfsberg E, Beaty TH. 1997. Evidence for a association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families. Hum Genet 99:22-6.
49. Zhao H, Zhang S, Merikangas KR, Trixler M, Wildenauer B, Sun F, Kidd KM. 2000. Transmission/disequilibrium tests using multiple tightly linked markers. Am J Hum Genet 67:936-46.