title: Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families.
abstract: The BCL3 gene has been considered a susceptibility locus for nonsyndromic cleft lip with or without cleft palate (NSCL/P), based on association and linkage studies in some populations. We evaluated an intragenic marker at the BCL3 gene and the microsatellite D19S178 (1.1 cM distant from the BCL3 gene) among 98 infants born with NSCL/P and their parents, using the transmission disequilibrium test (TDT) and a method for haplotype analysis. Our analysis, based on BCL3 alleles, revealed the existence of a marginal association of allele 135pb of the BCL3 gene with NSCL/P (chi(2)=3.60; P=0.058; 1 df), with a major effect in female (chi(2)=5.77; P=0.016; 1 df) and in familial cases (chi(2)=3.79; P=0.051; 1 df). However, the haplotype analysis detected no significant segregation distortion, even if the alleles of the D19S178 were grouped into two classes. These findings support previous findings that BCL3 plays a role in the etiology of NSCL/P as an allele of low penetrance or as a modifier locus. We hypothesize that there might be more than one mutation in this gene associated with NSCL/P, or alternatively, that more than one mutation has arisen associated with the 135-bp allele. Genet. Epidemiol. 23:364-374, 2002
authors.affiliation: Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: D A
authors.initials: DA
authors.lastname: Gaspar
authors.forename: S R
authors.initials: SR
authors.lastname: Matioli
authors.forename: R C
authors.initials: RC
authors.lastname: Pavanello
authors.forename: B C
authors.initials: BC
authors.lastname: Araújo
authors.forename: M
authors.initials: M
authors.lastname: André
authors.forename: S
authors.initials: S
authors.lastname: Steman
authors.forename: P A
authors.initials: PA
authors.lastname: Otto
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D000483:Alleles; D000081242:B-Cell Lymphoma 3 Protein; D001938:Brazil / Q000453:epidemiology; D016009:Chi-Square Distribution; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D014157:Transcription Factors
chemical_list: D000081242:B-Cell Lymphoma 3 Protein; C000631344:BCL3 protein, human; D011518:Proto-Oncogene Proteins; D014157:Transcription Factors; D004247:DNA