Association ofWNT9BGene Polymorphisms With Nonsyndromic Cleft Lip With or Without Cleft Palate in Brazilian Nuclear Families

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Nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a common craniofacial anomaly of complex etiology in people. WNT pathway genes have important roles during craniofacial development, and an association of WNT genes with NSCL±P has been demonstrated in different populations. The aim of this study was to evaluate the association between polymorphisms inWNT3andWNT9Bgenes and CL/P in Brazilian families.


Seventy nuclear families composed of an affected child and the child's unaffected parents were examined clinically. Saliva samples were collected for molecular analyses.


Three single nucleotide polymorphisms (SNPs) in theWNT3gene and two inWNT9Bwere investigated in real-time polymerase chain reaction using TaqMan chemistry. The Family-Based Association Test and the transmission disequilibrium test were used to verify the association between each marker allele and NSCL±P. The level of significance was established atP≤ .01 after Bonferroni correction.


A positive association was detected between NSCL±P and SNP rs1530364 in theWNT9Bgene. Haplotype analysis showed an association ofWNT3andWNT9Bhaplotypes. No association was detected between NSCL±P and individual SNPs inWNT3.


Our study further supports the involvement ofWNT9Bas a cleft susceptibility gene in Brazilian families experiencing NSCL±P. Although additional studies are still necessary to unveil the exact mechanism by which WNT genes would contribute to NSCL±P, allelic polymorphisms in these genes and their interactions may partly explain the variance of individual susceptibility to NSCL±P.

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