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Investigating Single Nucleotide Polymorphisms in the Etiology of Cleft Lip and Cleft Palate in the Polish Population.
Zawislak, Alicja; Wozniak, Krzysztof; Kawala, Beata; Gupta, Satish; Znamirowska-Bajowska, Anna; Grocholewicz, Katarzyna; Lubinski, Jan; Jakubowska, Anna.
Afiliación
  • Zawislak A; Department of Maxillofacial Orthopaedics and Orthodontics, Institute of Mother and Child, 01-211 Warsaw, Poland.
  • Wozniak K; Department of Interdisciplinary Dentistry, Pomeranian Medical University, 70-111 Szczecin, Poland.
  • Kawala B; Department of Orthodontics, Pomeranian Medical University, 70-111 Szczecin, Poland.
  • Gupta S; Department of Dentofacial Orthopaedics and Orthodontics, Wroclaw Medical University, 50-425 Wroclaw, Poland.
  • Znamirowska-Bajowska A; Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland.
  • Grocholewicz K; Department of Dentofacial Orthopaedics and Orthodontics, Wroclaw Medical University, 50-425 Wroclaw, Poland.
  • Lubinski J; Department of Interdisciplinary Dentistry, Pomeranian Medical University, 70-111 Szczecin, Poland.
  • Jakubowska A; Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland.
Int J Mol Sci ; 25(17)2024 Aug 28.
Article en En | MEDLINE | ID: mdl-39273256
ABSTRACT
Cleft lip and/or palate (CL/P) are the most common congenital anomalies in the craniofacial region, leading to morphological and functional disruptions in the facial region. Their etiology involves genetic and environmental factors, with genetics playing a crucial role. This study aimed to investigate the association of four single nucleotide polymorphisms (SNPs)-rs987525, rs590223, rs522616, and rs4714384-with CL/P in the Polish population. We analyzed DNA samples from 209 individuals with CL/P and 418 healthy controls. The impact of SNPs on the presence of CL/P was assessed using multivariate logistic regression. Significant associations were found with rs987525. Specifically, the AC genotype was linked to an increased CL/P risk (odds ratio [OR] = 1.95, 95% confidence interval [CI] 1.34-2.83, p < 0.001), while the CC genotype was associated with a decreased risk (OR = 0.46, 95% CI 0.32-0.67, p < 0.001). Rs4714384 was also significant, with the CT genotype correlated with a reduced risk of CL/P (OR = 0.66, 95% CI 0.46-0.94, p = 0.011). SNPs rs590223 and rs522616 did not show statistically significant associations. These results underscore the role of rs987525 and rs4714384 in influencing CL/P risk and suggest the utility of genetic screening in understanding CL/P etiology.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Labio Leporino / Fisura del Paladar / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Labio Leporino / Fisura del Paladar / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Suiza