Association Between PAX9 Single-Nucleotide Polymorphisms and Nonsyndromic Cleft Lip With or Without Cleft Palate

2012 ◽  
Vol 23 (5) ◽  
pp. 1262-1266 ◽  
Author(s):  
Jin Kyung Lee ◽  
Ji Wan Park ◽  
Young Ho Kim ◽  
Seung-Hak Baek
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate

2018 ◽  
Vol 58 (4) ◽  
pp. 130-135 ◽  
Author(s):  
Houshang Rafighdoost ◽  
Mohammad Hashemi ◽  
Hossein Asadi ◽  
Gholamreza Bahari
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Association of the GABRB3 Gene with Nonsyndromic Oral Clefts

2008 ◽  
Vol 45 (3) ◽  
pp. 261-266 ◽  
Author(s):  
Hiroki Inoue ◽  
Shuji Kayano ◽  
Yoko Aoki ◽  
Shigeo Kure ◽  
Atsushi Yamada ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Case Control ◽  
Dinucleotide Repeat ◽  
Aminobutyric Acid ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Oral Clefts

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.

A Mutation in RYK is a Genetic Factor for Nonsyndromic Cleft Lip and Palate

2006 ◽  
Vol 43 (3) ◽  
pp. 310-316 ◽  
Author(s):  
Akira Watanabe ◽  
Sadanori Akita ◽  
Nguyen Thi Duc Tin ◽  
Nagato Natsume ◽  
Yoko Nakano ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cleft Palate ◽  
Missense Mutation ◽  
Cleft Lip ◽  
Case Control Study ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Transmission Disequilibrium ◽  
Control Study

Objective The RYK, EPHB2, and EPHB3 genes are attractive candidates for cleft lip and/or palate and cleft palate only pathogenesis. Both the Ryk-deficient mouse and Ephb2/Ephb3 (genes for interaction molecules with RYK) double-mutant mouse show cleft palate. Setting Mutation searches for RYK, EPHB2, and EPHB3 were carried out in a large number of Japanese and Vietnamese patients with cleft lip and/or palate and cleft palate only. Case-control study and transmission disequilibrium tests were performed also, using three single nucleotide polymorphisms within a linkage disequilibrium block in RYK. Seven haplotypes were constructed from the single nucleotide polymorphisms. Results A missense mutation, 1355G>A (Y452C), in RYK was identified in one Vietnamese patient with cleft lip and/or palate. This mutation was not found among 1646 Vietnamese, Japanese, and Caucasians, including 354 cleft lip and/ or palate and cleft palate only patients. Colony formation assay using NIH3T3 cells transfected with mutant cDNA revealed that mutant RYK had significantly reduced protein activity, compared with those with wild-type RYK, implying that the transformation ability of RYK is depleted by this mutation. Although a case-control study and transmission disequilibrium tests on three individual single nucleotide polymorphisms provided no evidence for association with oral clefts, a case-control study on one rare haplotype suggested a positive association in Japanese patients with cleft lip and/or palate and cleft palate only. No mutations in EPHB2 and EPHB3 were found in any patients examined. Conclusion The findings suggested that a missense mutation, 1355G>A, and one rare single nucleotide polymorphisms haplotype may play a role in the development of cleft lip and/or palate in the Vietnamese, and cleft lip and/ or palate and cleft palate only in the Japanese.

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