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

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...

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Autores principales: Zawiślak, Alicja, Woźniak, Krzysztof, Agirre, Xabier, Gupta, Satish, Kawala, Beata, Znamirowska-Bajowska, Anna, Grocholewicz, Katarzyna, Lubiński, Jan, Prosper, Felipe, Jakubowska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583664/
https://www.ncbi.nlm.nih.gov/pubmed/34769998
http://dx.doi.org/10.3390/ijerph182111483
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author Zawiślak, Alicja
Woźniak, Krzysztof
Agirre, Xabier
Gupta, Satish
Kawala, Beata
Znamirowska-Bajowska, Anna
Grocholewicz, Katarzyna
Lubiński, Jan
Prosper, Felipe
Jakubowska, Anna
author_facet Zawiślak, Alicja
Woźniak, Krzysztof
Agirre, Xabier
Gupta, Satish
Kawala, Beata
Znamirowska-Bajowska, Anna
Grocholewicz, Katarzyna
Lubiński, Jan
Prosper, Felipe
Jakubowska, Anna
author_sort Zawiślak, Alicja
collection PubMed
description 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.
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spelling pubmed-85836642021-11-12 Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population Zawiślak, Alicja Woźniak, Krzysztof Agirre, Xabier Gupta, Satish Kawala, Beata Znamirowska-Bajowska, Anna Grocholewicz, Katarzyna Lubiński, Jan Prosper, Felipe Jakubowska, Anna Int J Environ Res Public Health Article 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. MDPI 2021-10-31 /pmc/articles/PMC8583664/ /pubmed/34769998 http://dx.doi.org/10.3390/ijerph182111483 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Zawiślak, Alicja
Woźniak, Krzysztof
Agirre, Xabier
Gupta, Satish
Kawala, Beata
Znamirowska-Bajowska, Anna
Grocholewicz, Katarzyna
Lubiński, Jan
Prosper, Felipe
Jakubowska, Anna
Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_full Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_fullStr Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_full_unstemmed Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_short Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_sort association of abca4 gene polymorphisms with cleft lip with or without cleft palate in the polish population
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583664/
https://www.ncbi.nlm.nih.gov/pubmed/34769998
http://dx.doi.org/10.3390/ijerph182111483
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