title: Polymorphisms in GABRB3 and oral clefting in the Brazilian population.
abstract: The aim of this study was to evaluate the influence of the γ-aminobutyric acid receptor type A β-3 subunit (GABRB3) polymorphisms in patients with nonsyndromic cleft lip and/or palate (NSCL/P). We carried out a structured case-control analysis of three GABRB3 polymorphisms (rs4477673, rs6576618, and rs981778) in 229 patients with nonsyndromic cleft lip with or without cleft palate (CL±P) and in 314 unaffected controls from Brazil. The polymorphisms were genotyped by the TaqMan 5'-exonuclease allelic discrimination assay, and each sample was independently typed for 40 biallelic short insertion/deletion markers (INDELs) to characterize the genomic ancestry. The genotype distributions of the three polymorphisms were as expected by the Hardy-Weinberg equilibrium test. After adjustment to ancestry contribution, the minor A allele of rs981778 was associated with NSCL/P, but significant results did not persist after Bonferroni correction for multiple tests. Similarly, the haplotype analysis revealed that the CCA haplotype (C allele of rs4477673, C allele of rs6576618, and A allele of rs981778) was correlated with NSCL/P, but this association did not remain statistically significant after Bonferroni correction. With a weak association, our data do not support the hypothesis that the GABRB3 variants are a cause of NSCL/P, but further studies are warranted.
authors: Oral Pathology, School of Dentistry, State University of Campinas, Piracicaba, São Paulo, Brazil.
authors: Marcella Rosa
authors: MR
authors: Filézio
authors: Elizabete
authors: E
authors: Bagordakis
authors: Sibele Nascimento
authors: SN
authors: de Aquino
authors: Ana Camila
authors: AC
authors: Pereira Messetti
authors: Hercílio
authors: H
authors: Martelli-Júnior
authors: Mário Sérgio Oliveira
authors: MS
authors: Swerts
authors: Edgard
authors: E
authors: Graner
authors: Ricardo D
authors: RD
authors: Coletta
authors: Lívia Máris Ribeiro
authors: LM
authors: Paranaíba
mesh_terms: D000328:Adult; D000483:Alleles; D001938:Brazil; D002971:Cleft Lip / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics*
chemical_list: C546273:GABRB3 protein, human; D011963:Receptors, GABA-A