Association of the GABRB3 gene with nonsyndromic oral clefts

Hiroki Inoue, Shuji Kayano, Yoko Aoki, Shigeo Kure, Atsushi Yamada, Akira Hata, Yoichi Matsubara, Yoichi Suzuki

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

Objective: Nonsyndromic oral clefts are common craniofacial anomalies classified into two subgroups: cleft lip with or without cleft palate and isolated cleft palate. Nonsyndromic oral clefts are multifactorial diseases, with both genetic and environmental factors involved in their pathogenesis. The inhibitory neurotransmitter, γ-aminobutyric acid plays a role in normal embryonic, and particularly facial, development and γ-aminobutyric acid receptor type A β-3 subunit (GABRB3) knockout mice have been shown to have cleft palate. The GABRB3 gene is therefore a strong candidate gene for nonsyndromic oral clefts. We investigated here whether genetic variations of the GABRB3 gene affect the risk for nonsyndromic oral clefts. Method: In this case-control study, a total of 178 Japanese patients with cleft lip with or without cleft palate and 374 unrelated controls were recruited and were genotyped for six single nucleotide polymorphisms and a dinucleotide repeat marker of the GABRB3 gene. Results: None of the single nucleotide polymorphisms showed complete linkage disequilibrium with other single nucleotide polymorphisms. In a case-control association study with the six-locus haplotype of the gene, TGTGCT haplotype frequency in patients with cleft lip with or without cleft palate was significantly higher than in the controls (corrected p value = .029). None of the alleles of the dinucleotide repeat marker showed significant association with cleft lip with or without cleft palate. Conclusions: Our data suggest that the GABRB3 gene is involved in the pathogenesis of cleft lip with or without cleft palate in the Japanese population.

Original languageEnglish
Pages (from-to)261-266
Number of pages6
JournalCleft Palate-Craniofacial Journal
Volume45
Issue number3
DOIs
Publication statusPublished - 2008 May

Keywords

  • Cleft palate
  • GABRB3 gene
  • Nonsyndromic cleft lip with or without cleft palate
  • Oral clefts
  • Single nucleotide polymorphism
  • γ-aminobutyric acid (GABA)

ASJC Scopus subject areas

  • Oral Surgery
  • Otorhinolaryngology

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