MSX1 and TGFB3 contribute to clefting in South America

被引：87

作者：

Vieira, AR

Orioli, IM

Castilla, EE

Cooper, ME

Marazita, ML

Murray, JC

机构：

[1] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

[2] Univ Iowa, Genet PhD Program, Iowa City, IA 52242 USA

[3] Univ Fed Rio de Janeiro, Latin Amer Collaborat Study Congenital Malformat, ECLAMC, Dept Genet, Rio De Janeiro, Brazil

[4] Inst Oswaldo Cruz, Latin Amer Collaborat Study Congenital Malformat, ECLAMC, Dept Genet, BR-20001 Rio De Janeiro, Brazil

[5] CEMIC, Buenos Aires, DF, Argentina

[6] Univ Pittsburgh, Ctr Craniofacial & Dent Genet, Sch Dent Med, Pittsburgh, PA USA

[7] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA

[8] Bolsista CAPES, Brasilia, DF, Brazil

来源：

JOURNAL OF DENTAL RESEARCH | 2003年 / 82卷 / 04期

关键词：

cleft lip and palate; cleft palate; MSX1; TGFB3; ECLAMC;

D O I：

10.1177/154405910308200409

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

MSX1 and TGFB3 have been proposed as genes in which mutations may contribute to non syndromic forms of oral clefts; however, an interaction between these genes has not been described. The present study attempts to detect transmission distortion of MSX1 and TGFB3 in 217 South American children from their respective mothers. With transmission disequilibrium test analysis, cleft lip with/without cleft palate, cleft lip with palate plus cleft palate only, and all datasets combined showed evidence of association with MSX1 (p = 0.004, p = 0.037, and p = 0.001, respectively). With likelihood ratio test analysis, cleft lip only" showed association with MSX1 (p = 0.04) and "cleft palate only" with TGFB3 (p, = 0.02). A joint analysis of MSX1 and TGFB3 suggested that there may be an interaction between these two loci to increase cleft susceptibility. These results suggest that MSX1 and TGFB3 mutations make a contribution to clefts in South American populations.

引用

页码：289 / 292

页数：4

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