구순구개열과 IRF6 과 MSX 유전자의 단일염기다형성과의 연관성: 타액 유래 DNA를 활용한 예비 연구

Association between Cleft Lip and/or Palate and Single Nucleotide Polymorphisms in the IRF6 and MSX1 Genes: A Pilot Study Using Saliva-derived DNA

Objective: Cleft lip and/or palate (CL/P) is the most common congenital craniofacial anomaly. While both genetic and environmental factors are involved, studies on single nucleotide polymorphisms (SNPs) related to CL/P in the Korean population remain limited. This study aimed to investigate the association between CL/P and SNPs in the IRF6 and MSX1 genes using saliva-derived DNA. Materials and Methods: Saliva samples were collected from 27 individuals with nonsyndromic CL/P and 23 controls. Six SNPs (three in IRF6 and three in MSX1) were genotyped. Statistical analyses and genome-wide association screening were performed. Results: No SNPs showed statistically significant association. However, the IRF6- rs2235371 T allele and MSX1-rs33931631 A allele appeared potentially protective, while MSX1-rs34206627 C allele may be a risk factor. Genome-wide analysis revealed suggestive associations near PTPRD, LDLRAD3, and NFIC. Conclusion: This pilot study supports the feasibility of saliva-based genetic analysis and suggests candidate variants for further investigation. Larger studies are needed to confirm these findings.