Genetic Predictors for the Development of Congenital Orofacial Clefts
Background: The aim of this study was to search for associations between polymorphisms of the IRF6, MDR1, and MTHFR genes and the risk of congenital orofacial cleft (OFCs) among the population of the Republic of Sakha (Yakutia). Methods and Results: The sample of the studied individuals consisted of...
Published in: | International Journal of Biomedicine |
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International Medical Research and Development Corporation
2020
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Online Access: | https://doi.org/10.21103/Article10(1)_OA7 https://doaj.org/article/3392a71ebe4b419f944cb3bed6a9f57a |
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ftdoajarticles:oai:doaj.org/article:3392a71ebe4b419f944cb3bed6a9f57a 2023-05-15T18:06:46+02:00 Genetic Predictors for the Development of Congenital Orofacial Clefts Nadezhda I. Pavlova Khariton A. Kurtanov Aleksandra T. Diakonova Lyubov S. Mironova Natalia A. Solovyeva Yigulana P. Borisova Vladimir V. Dodokhov Innokenty D. Ushnitsky 2020-03-01T00:00:00Z https://doi.org/10.21103/Article10(1)_OA7 https://doaj.org/article/3392a71ebe4b419f944cb3bed6a9f57a EN eng International Medical Research and Development Corporation http://ijbm.org/articles/i37/ijbm_10(1)_oa7.pdf https://doaj.org/toc/2158-0510 https://doaj.org/toc/2158-0529 doi:10.21103/Article10(1)_OA7 2158-0510 2158-0529 https://doaj.org/article/3392a71ebe4b419f944cb3bed6a9f57a International Journal of Biomedicine, Vol 10, Iss 1, Pp 50-53 (2020) orofacial cleft cleft lip and palate irf6 mthfr mdr1 Medicine R article 2020 ftdoajarticles https://doi.org/10.21103/Article10(1)_OA7 2022-12-31T01:34:19Z Background: The aim of this study was to search for associations between polymorphisms of the IRF6, MDR1, and MTHFR genes and the risk of congenital orofacial cleft (OFCs) among the population of the Republic of Sakha (Yakutia). Methods and Results: The sample of the studied individuals consisted of 94 children (46 girls and 48 boys) with OFCs and their parents (75 mothers and 18 fathers). The children with OFCs were divided into 3 groups. Group 1 included 48 children with cleft lip and palate (CLP); Group 2 included 22 children with cleft lip (CL); Group 3 included 24 children with cleft palate (CP). The comparison group included 156 healthy volunteers (118 women and 38 men) who did not have a history of relatives with OFCs. Analysis of the distribution of alleles and genotypes of studied SNPs in children with all OFCs and healthy children showed a significant (P=0.000) difference only in MDR1 genetic variant rs1045642 SNP. The carriage of the TT genotype of the MDR1 rs1045642 SNP was associated with increased risk of OFCs (OR=2.711, 95% CI=1.459-5.037; P=0.000). Analysis of the frequency distribution of alleles and genotypes depending on the severity of clefts showed that the carriage of the TT genotype of the MDR1 rs1045642 SNP was associated with significant risk for development of CL (OR = 3.114; 95% CI = 1.123-8.634) and CLP (OR = 2.804; 95% CI = 1.333-5.895). In children with CP, we found significant risk with carriage of the TT genotype of the IRF6 rs2235371 SNP (OR = 5,429, 95% CI = 1,135-25,962; P=0.035). Conclusion: A study of four SNPs in the IRF6, MDR1, and MTHFR genes revealed statistically significant increased risks for OFCs in carriers of the TT genotype of the MDR1 rs1045642 SNP; in addition, the carriage of the TT genotype of the IRF6 rs2235371 SNP significantly increased the risk of CP development. Article in Journal/Newspaper Republic of Sakha Yakutia Directory of Open Access Journals: DOAJ Articles Sakha International Journal of Biomedicine 10 1 50 53 |
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Open Polar |
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Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
orofacial cleft cleft lip and palate irf6 mthfr mdr1 Medicine R |
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orofacial cleft cleft lip and palate irf6 mthfr mdr1 Medicine R Nadezhda I. Pavlova Khariton A. Kurtanov Aleksandra T. Diakonova Lyubov S. Mironova Natalia A. Solovyeva Yigulana P. Borisova Vladimir V. Dodokhov Innokenty D. Ushnitsky Genetic Predictors for the Development of Congenital Orofacial Clefts |
topic_facet |
orofacial cleft cleft lip and palate irf6 mthfr mdr1 Medicine R |
description |
Background: The aim of this study was to search for associations between polymorphisms of the IRF6, MDR1, and MTHFR genes and the risk of congenital orofacial cleft (OFCs) among the population of the Republic of Sakha (Yakutia). Methods and Results: The sample of the studied individuals consisted of 94 children (46 girls and 48 boys) with OFCs and their parents (75 mothers and 18 fathers). The children with OFCs were divided into 3 groups. Group 1 included 48 children with cleft lip and palate (CLP); Group 2 included 22 children with cleft lip (CL); Group 3 included 24 children with cleft palate (CP). The comparison group included 156 healthy volunteers (118 women and 38 men) who did not have a history of relatives with OFCs. Analysis of the distribution of alleles and genotypes of studied SNPs in children with all OFCs and healthy children showed a significant (P=0.000) difference only in MDR1 genetic variant rs1045642 SNP. The carriage of the TT genotype of the MDR1 rs1045642 SNP was associated with increased risk of OFCs (OR=2.711, 95% CI=1.459-5.037; P=0.000). Analysis of the frequency distribution of alleles and genotypes depending on the severity of clefts showed that the carriage of the TT genotype of the MDR1 rs1045642 SNP was associated with significant risk for development of CL (OR = 3.114; 95% CI = 1.123-8.634) and CLP (OR = 2.804; 95% CI = 1.333-5.895). In children with CP, we found significant risk with carriage of the TT genotype of the IRF6 rs2235371 SNP (OR = 5,429, 95% CI = 1,135-25,962; P=0.035). Conclusion: A study of four SNPs in the IRF6, MDR1, and MTHFR genes revealed statistically significant increased risks for OFCs in carriers of the TT genotype of the MDR1 rs1045642 SNP; in addition, the carriage of the TT genotype of the IRF6 rs2235371 SNP significantly increased the risk of CP development. |
format |
Article in Journal/Newspaper |
author |
Nadezhda I. Pavlova Khariton A. Kurtanov Aleksandra T. Diakonova Lyubov S. Mironova Natalia A. Solovyeva Yigulana P. Borisova Vladimir V. Dodokhov Innokenty D. Ushnitsky |
author_facet |
Nadezhda I. Pavlova Khariton A. Kurtanov Aleksandra T. Diakonova Lyubov S. Mironova Natalia A. Solovyeva Yigulana P. Borisova Vladimir V. Dodokhov Innokenty D. Ushnitsky |
author_sort |
Nadezhda I. Pavlova |
title |
Genetic Predictors for the Development of Congenital Orofacial Clefts |
title_short |
Genetic Predictors for the Development of Congenital Orofacial Clefts |
title_full |
Genetic Predictors for the Development of Congenital Orofacial Clefts |
title_fullStr |
Genetic Predictors for the Development of Congenital Orofacial Clefts |
title_full_unstemmed |
Genetic Predictors for the Development of Congenital Orofacial Clefts |
title_sort |
genetic predictors for the development of congenital orofacial clefts |
publisher |
International Medical Research and Development Corporation |
publishDate |
2020 |
url |
https://doi.org/10.21103/Article10(1)_OA7 https://doaj.org/article/3392a71ebe4b419f944cb3bed6a9f57a |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Republic of Sakha Yakutia |
genre_facet |
Republic of Sakha Yakutia |
op_source |
International Journal of Biomedicine, Vol 10, Iss 1, Pp 50-53 (2020) |
op_relation |
http://ijbm.org/articles/i37/ijbm_10(1)_oa7.pdf https://doaj.org/toc/2158-0510 https://doaj.org/toc/2158-0529 doi:10.21103/Article10(1)_OA7 2158-0510 2158-0529 https://doaj.org/article/3392a71ebe4b419f944cb3bed6a9f57a |
op_doi |
https://doi.org/10.21103/Article10(1)_OA7 |
container_title |
International Journal of Biomedicine |
container_volume |
10 |
container_issue |
1 |
container_start_page |
50 |
op_container_end_page |
53 |
_version_ |
1766178446811070464 |