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

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Abstract

Objective:

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.

Patients:

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

Design:

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.

Results:

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.

Conclusion:

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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