Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population

Alicja Zawiślak, Krzysztof Woźniak, Xabier Agirre, Satish Gupta, Beata Kawala, Anna Znamirowska-Bajowska, Katarzyna Grocholewicz, Jan Lubiński, Felipe Prosper and Anna Jakubowska
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Alicja Zawiślak: Department of Interdisciplinary Dentistry, Pomeranian Medical University, 70-111 Szczecin, Poland
Krzysztof Woźniak: Department of Orthodontics, Pomeranian Medical University, 70-111 Szczecin, Poland
Xabier Agirre: Centro de Investigación Médica Aplicada, IDISNA, Universidad de Navarra, Avenida Pío XII-55, 31008 Pamplona, Spain
Satish Gupta: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland
Beata Kawala: Department of Dentofacial Orthopaedics and Orthodontics, Wrocław Medical University, 50-425 Wrocław, Poland
Anna Znamirowska-Bajowska: Department of Dentofacial Orthopaedics and Orthodontics, Wrocław Medical University, 50-425 Wrocław, Poland
Katarzyna Grocholewicz: Department of Interdisciplinary Dentistry, Pomeranian Medical University, 70-111 Szczecin, Poland
Jan Lubiński: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland
Felipe Prosper: Centro de Investigación Médica Aplicada, IDISNA, Universidad de Navarra, Avenida Pío XII-55, 31008 Pamplona, Spain
Anna Jakubowska: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland

IJERPH, 2021, vol. 18, issue 21, 1-8

Abstract: Background: Non-syndromic cleft lip with/without cleft palate (NSCL/P) is a common congenital condition with a complex aetiology reflecting multiple genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in ABCA4 have been associated with NSCL/P in several studies, although there are some inconsistent results. This study aimed to evaluate whether two SNPs in ABCA4 , namely rs4147811 and rs560426, are associated with NSCL/P occurrence in the Polish population. Methods: The study included 627 participants: 209 paediatric patients with NSCL/P and 418 healthy newborn controls. DNA was isolated from the saliva of NSCL/P patients and from umbilical cord blood in the controls. Genotyping of rs4147811 and rs560426 was performed using quantitative PCR. Results: The rs4147811 (AG genotype) SNP in ABCA4 was associated with a decreased risk of NSCL/P (odds ratio (OR) 0.57; 95% confidence interval (CI) 0.39–0.84; p = 0.004), whereas the rs560426 (GG genotype) SNP was associated with an increased risk of NSCL/P (OR 2.13; 95% CI 1.31–3.48; p = 0.002). Limitations: This study—based on the correlation between single genetic variants and the occurrence of different phenotypes—might have limited power in detecting relevant, complex inheritance patterns. ORs are often low to moderate when investigating the association of single genes with the risk of a complex trait. Another limitation was the small number of available NSCL/P samples. Conclusions: The results suggest that genetic variations in ABCA4 are important risk markers of NSCL/P in the Polish population. Further investigation in a larger study group is warranted.

Keywords: congenital condition; cleft lip; cleft palate; genetic variation; single nucleotide polymorphism; ABCA4 (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2021
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