AXIN2andCDH1polymorphisms, tooth agenesis, and oral clefts

Wiley - Tập 85 Số 2 - Trang 169-173 - 2009
Ariadne Letra1,2, Renato Menezes1,2, José Mauro Granjeiro3, Alexandre R. Vieira4,2,5
1Ariadne Letra and Renato Menezes contributed equally to this work.
2Department of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania;
3Department of Cell and Molecular Biology, Fluminense Federal University, Niterói, RJ, Brazil
4Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania
5Department of Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania

Tóm tắt

AbstractBACKGROUND:AXIN2andCDH1genes play important roles during craniofacial morphogenesis. Mutations in these genes have been described in families presenting colorectal cancer and tooth agenesis, and gastric cancer and cleft lip/palate (CL/P). Oral clefts have been associated with tooth agenesis. We investigated ifAXIN2andCDH1polymorphisms were associated with clefts or with any associated dental subphenotypes.METHODS:Markers inAXIN2andCDH1were genotyped using Taqman chemistry in a sample cohort comprised of 500 cleft individuals and 500 unrelated controls.RESULTS:Comparison between cleft and control groups showed a trend for association forAXIN2with incomplete cleft palate (p= .006) andCDH1with unilateral CL/P (p= .03 for left CL/P andp= .04 for right CL/P). Comparison of cleft subphenotypes with tooth agenesis and controls revealed borderline associations forCDH1(p= .008) andAXIN2(p= .01) with unilateral right CL/P with tooth agenesis.CONCLUSIONS:We observed only borderline results for the association ofAXIN2andCDH1with CL/P with and without tooth agenesis. Nevertheless, implication of these genes in the simultaneous occurrence of CL/P and cancer, and in tooth agenesis and cancer, is rather intriguing and warrants further investigations with other geographic and ethnic populations. Birth Defects Research (Part A), 2009. © 2008 Wiley‐Liss, Inc.

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Wiley

Tập 85 Số 2

169-173

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