BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is the most common orofacial birth defect with an aetiology involving both genetic and environmental factors. Genome-wide association studies (GWAS) have identified several genomic susceptibility regions for nsCL/P. In the present study, the three well established single nucleotide polymorphisms (SNPs) identified by GWAS (rs987525 at 8q24, rs7078160 at 10q25, and rs227731 at 17q22 loci) and one SNP identified by candidate gene study (rs642961 in IRF6 gene at 1q32 locus) were analysed for an association with nsCL/P in Slovak population. METHODS: Nucleotide variants were genotyped in 165 nsCL/P patients and 326 unaffected controls. All variants of interest were genotyped using high-resolution melting analysis after real-time PCR. RESULTS: We found significant differences between patient and control groups with respect to the allele and genotype frequencies for the SNPs at the 1q32, 8q24, and 17q22 loci. SNP at the 10q25 locus showed a trend toward association with nsCL/P risk. CONCLUSIONS: The results suggest that SNPs at the 1q32, 8q24 and 17q22 loci may contribute to the nsCL/P risk in Slovak population.

1st Department of Paediatrics Faculty of Medicine Comenius University and Children's University Hospital Bratislava Slovak Republic

Department of Medical Biology Faculty of Medicine PJ Safarik University in Kosice Slovak Republic

Department of Paediatrics Faculty of Medicine PJ Safarik University in Kosice and Children's University Hospital Kosice Slovak Republic

Department of Plastic Reconstructive and Aesthetic Surgery Faculty of Medicine Commenius University and University Hospital Bratislava Slovak Republic

Department of Plastic Reconstructive and Aesthetic Surgery LP University Hospital Kosice Slovak Republic

Institut fur Medizinische Genetik Medizinische Universitat Wien Austria

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