Related Experiment Video
Updated: Sep 10, 2025
09:26
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
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Gene-Sex Interaction in Non-Syndromic Orofacial Cleft Subtypes: A Case-Control Study Among the Vietnamese Population.
Le Kha Anh1,2, Teruyuki Niimi1,3,4, Satoshi Suzuki1
1Division of Research and Treatment for Oral Maxillofacial Congenital Anomalies, Aichi Gakuin University, Nagoya 464-8651, Japan.
Genes
|August 28, 2025
Summary
The WNT3 rs3809857 polymorphism significantly reduces the risk of cleft lip only (NSCLO) in males. Sex is a key factor influencing genetic susceptibility to non-syndromic orofacial clefts (NSOFCs).
Area of Science:
- Genetics
- Congenital Malformations
- Population Studies
Background:
- Non-syndromic orofacial clefts (NSOFCs) are common congenital malformations in Vietnam, affecting 1.4 per 1000 live births.
- Notable sex differences exist in the occurrence of NSOFCs.
- Investigating genetic factors and their sex-specific interactions is crucial for understanding NSOFC etiology.
Purpose of the Study:
- To investigate potential sex-specific interactions of WNT3 and NOG gene polymorphisms in Vietnamese NSOFC subtypes.
- To identify genetic variants associated with different types of non-syndromic orofacial clefts.
- To explore the role of sex as a modifying factor in genetic susceptibility to NSOFCs.
Main Methods:
- A case-control study involving 720 participants across four groups: NSCLP, NSCLO, NSCPO, and healthy controls, with a 1:1 male/female ratio.
- Genotyping of two single-nucleotide polymorphisms (SNPs): WNT3 rs3809857 and NOG rs227731 using real-time PCR.
- Statistical analysis including Bonferroni correction and evaluation under recessive and dominant genetic models.
Main Results:
- WNT3 rs3809857 showed a significant protective effect against NSCLO in males under a recessive model (OR=0.18, p=0.0033).
- A moderate protective association between WNT3 rs3809857 and male NSCLP was observed under a dominant model (p<0.05).
- No significant associations were found for WNT3 in female NSOFC subtypes, while NOG rs227731 indicated a weak increased risk in females with NSCLO and NSCPO.
Conclusions:
- The WNT3 rs3809857 polymorphism plays a critical role in reducing NSCLO risk specifically in males.
- These findings highlight the significant influence of sex as a modifying factor in the genetic susceptibility to non-syndromic orofacial clefts.
- Further research into sex-specific genetic factors is warranted for a comprehensive understanding of NSOFCs.
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