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Updated: Jun 14, 2025

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Testing Reported Associations of Gene Variants with Non-Syndromic Orofacial Clefts in the Polish Population
Alicja Zawiślak1,2, Krzysztof Woźniak3, Gianluca Tartaglia4
1Department of Maxillofacial Orthopaedics and Orthodontics, Institute of Mother and Child, 01-211 Warsaw, Poland.
A specific gene variant, rs7078, is linked to a higher risk of orofacial clefts (OFCs) in the Polish population. This finding may aid in understanding the genetic factors contributing to this common birth defect.
Area of Science:
- Genetics and Genomics
- Birth Defects Research
- Population Studies
Background:
- Orofacial clefts (OFCs) represent a significant global birth defect, with complex etiological origins.
- Genetic and environmental factors are known to interact, influencing OFC development.
- Genomic advancements have identified several gene variants associated with OFCs.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in *MYH9*, *MTHFR*, *MAFB*, and *SUMO1* genes and non-syndromic OFCs.
- To evaluate the influence of specific SNPs on OFC occurrence in the Polish population.
- To identify potential genetic markers for non-syndromic OFCs.
Main Methods:
- Case-control study involving 209 individuals with non-syndromic OFCs and 418 healthy controls from Poland.
- DNA extraction from saliva and umbilical cord blood samples.
- Genotyping of four SNPs (rs7078, rs1081131, rs13041247, rs3769817) using real-time PCR TaqMan assays.
- Logistic regression analysis to determine SNP-OFC associations.
Main Results:
- A statistically significant association was observed between the rs7078 CC polymorphism and an increased risk of OFCs (Odds Ratio = 3.22, 95% Confidence Interval = 1.68-6.17, p < 0.001).
- No significant associations were found for the rs1081131, rs13041247, and rs3769817 polymorphisms in the studied genes.
- The rs7078 polymorphism demonstrated a notable influence on the occurrence of orofacial cleft palate.
Conclusions:
- The rs7078 polymorphism in the *MYH9* gene is significantly associated with non-syndromic orofacial clefts in the Polish population.
- The investigated SNPs rs3769817, rs1801131, and rs13041247 do not appear to be correlated with OFCs in this cohort.
- This study highlights the role of specific genetic variants in the etiology of OFCs, particularly in the Polish demographic.
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