Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the chilean population

Abstract

Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected (chi 2 = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting. No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but do not support the hypothesis that TGFA is a major causal gene of CL(P).

Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial orofacial cleft

“…Tel : j39-0532-291538; Fax: j39-0532-291533; E-mail: tgm!unife.it located on 2p13, and the occurrence of clefting. Since then, several investigations supported a role for TGFA, or a nearby gene (OFC2), as a susceptibility gene(s) involved in some way in OFC malformations (Chenevix-Trench et al 1992 ;Holder et al 1992 ;Sassani et al 1993 ;Feng et al 1994 ;Jara et al 1995). In a recent linkage study using markers mapping on 2p13, we confirmed the genetic heterogeneity for OFC, and evidence of linkage was observed in the same group of families showing linkage to 6p23 markers .…”

Chemical exposure during pregnancy and oral clefts in newborns

“…Genetic analysis and specific tissue expression studies support the theory that specific variants of alleles in the TGFα gene participate actively in the craniofacial development mechanism (Shiang et al, 1993). Jara et al (1995), analyzing a racially mixed segment of the Chilean population, identified an association between TGFα and CL/P (p < 0.014). However, this study does not support the hypothesis that TGFα is the principal causal gene for these malformations.…”

Estudo sobre o crescimento e desenvolvimento craniofacial: teste de associação entre marcadores genéticos e indicadores morfológicos numa amostra de fissurados labiopalatais do estado do Paraná - Brasil

“…Apesar da determinação precisa do comportamento dos genes relacionados à etiologia das FL/P não ser clara, devido a diversos fatores -diferentes genes que podem estar ativos em diferentes famílias 9 , modificação da expressão genética em diferentes tipos raciais 8,13 e ocorrência de expressão variável frente aos fatores ambientais 25 -vários genes candidatos à associação com a deformidade em questão têm sido identificados e estudados, principalmente através de estudos de ligação em humanos e modelos animais. Entre os candidatos estão: TGFA (transforming growth factor alpha) e RARA (retinoic acid receptor alpha), 13A e o gene END1 4,6 .…”