Association of <i>ABCA4</i> 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 <i>ABCA4</i> have been associated with NSCL/P in several studi...

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Autores principales:	Alicja Zawiślak, Krzysztof Woźniak, Xabier Agirre, Satish Gupta, Beata Kawala, Anna Znamirowska-Bajowska, Katarzyna Grocholewicz, Jan Lubiński, Felipe Prosper, Anna Jakubowska
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	congenital condition cleft lip cleft palate genetic variation single nucleotide polymorphism <i>ABCA4</i> Medicine R
Acceso en línea:	https://doaj.org/article/0c671a145c75426eac7e89d63607eb08
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spelling	oai:doaj.org-article:0c671a145c75426eac7e89d63607eb082021-11-11T16:36:37ZAssociation of <i>ABCA4</i> Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population10.3390/ijerph1821114831660-46011661-7827https://doaj.org/article/0c671a145c75426eac7e89d63607eb082021-10-01T00:00:00Zhttps://www.mdpi.com/1660-4601/18/21/11483https://doaj.org/toc/1661-7827https://doaj.org/toc/1660-4601Background: 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 <i>ABCA4</i> have been associated with NSCL/P in several studies, although there are some inconsistent results. This study aimed to evaluate whether two SNPs in <i>ABCA4</i>, 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 <i>ABCA4</i> was associated with a decreased risk of NSCL/P (odds ratio (OR) 0.57; 95% confidence interval (CI) 0.39–0.84; <i>p</i> = 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; <i>p</i> = 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 <i>ABCA4</i> are important risk markers of NSCL/P in the Polish population. Further investigation in a larger study group is warranted.Alicja ZawiślakKrzysztof WoźniakXabier AgirreSatish GuptaBeata KawalaAnna Znamirowska-BajowskaKatarzyna GrocholewiczJan LubińskiFelipe ProsperAnna JakubowskaMDPI AGarticlecongenital conditioncleft lipcleft palategenetic variationsingle nucleotide polymorphism<i>ABCA4</i>MedicineRENInternational Journal of Environmental Research and Public Health, Vol 18, Iss 11483, p 11483 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	congenital condition cleft lip cleft palate genetic variation single nucleotide polymorphism <i>ABCA4</i> Medicine R
spellingShingle	congenital condition cleft lip cleft palate genetic variation single nucleotide polymorphism <i>ABCA4</i> Medicine R Alicja Zawiślak Krzysztof Woźniak Xabier Agirre Satish Gupta Beata Kawala Anna Znamirowska-Bajowska Katarzyna Grocholewicz Jan Lubiński Felipe Prosper Anna Jakubowska Association of <i>ABCA4</i> Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
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 <i>ABCA4</i> have been associated with NSCL/P in several studies, although there are some inconsistent results. This study aimed to evaluate whether two SNPs in <i>ABCA4</i>, 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 <i>ABCA4</i> was associated with a decreased risk of NSCL/P (odds ratio (OR) 0.57; 95% confidence interval (CI) 0.39–0.84; <i>p</i> = 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; <i>p</i> = 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 <i>ABCA4</i> are important risk markers of NSCL/P in the Polish population. Further investigation in a larger study group is warranted.
format	article
author	Alicja Zawiślak Krzysztof Woźniak Xabier Agirre Satish Gupta Beata Kawala Anna Znamirowska-Bajowska Katarzyna Grocholewicz Jan Lubiński Felipe Prosper Anna Jakubowska
author_facet	Alicja Zawiślak Krzysztof Woźniak Xabier Agirre Satish Gupta Beata Kawala Anna Znamirowska-Bajowska Katarzyna Grocholewicz Jan Lubiński Felipe Prosper Anna Jakubowska
author_sort	Alicja Zawiślak
title	Association of <i>ABCA4</i> Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_short	Association of <i>ABCA4</i> Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_full	Association of <i>ABCA4</i> Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_fullStr	Association of <i>ABCA4</i> Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_full_unstemmed	Association of <i>ABCA4</i> Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
title_sort	association of <i>abca4</i> gene polymorphisms with cleft lip with or without cleft palate in the polish population
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/0c671a145c75426eac7e89d63607eb08
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Association of <i>ABCA4</i> Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population

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