Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population
Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects. NSCL/P can be broadly divided into cleft lip only (CLO), cleft palate only (CPO), and cleft lip with cleft palate (CLP) based on clinical presentation. The aim of this study was to inve...
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International Medical Research and Development Corporation
2021
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ftdoajarticles:oai:doaj.org/article:b7e43c3a241e4d7eab6a130116963db8 2023-05-15T18:45:17+02:00 Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population Nadezhda I. Pavlova Aleksandra T. Diakonova Vladislav A. Alekseev Lyubov S. Mironova Vladimir V. Dodokhov Khariton A. Kurtanov Innokenty D. Ushnitsky 2021-12-01T00:00:00Z https://doi.org/10.21103/Article11(4)_OA28 https://doaj.org/article/b7e43c3a241e4d7eab6a130116963db8 EN eng International Medical Research and Development Corporation http://ijbm.org/articles/i44/ijbm_11(4)_oa28.pdf https://doaj.org/toc/2158-0510 https://doaj.org/toc/2158-0529 doi:10.21103/Article11(4)_OA28 2158-0510 2158-0529 https://doaj.org/article/b7e43c3a241e4d7eab6a130116963db8 International Journal of Biomedicine, Vol 11, Iss 4, Pp 570-575 (2021) orofacial cleft irf6 gene yakuts haplotype diplotype rs2235371 rs861019 Medicine R article 2021 ftdoajarticles https://doi.org/10.21103/Article11(4)_OA28 2022-12-31T12:43:34Z Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects. NSCL/P can be broadly divided into cleft lip only (CLO), cleft palate only (CPO), and cleft lip with cleft palate (CLP) based on clinical presentation. The aim of this study was to investigate the relationship between the IRF6 gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population. Methods and Results: In 23 OFC patients and 58 unrelated control subjects from the Yakut population, we tested two SNPs (rs2235371 and rs861019) with a minor allele frequency of more than 5% in the candidate gene IRF6. We found that the SNP marker rs861019 showed significant differences in allele frequencies (OR=2.07, 95%CI: 1.01–4.23, P=0.04) between the NSCL/P patients and the comparison group. Analysis of allele frequencies for rs861019 SNP in subgroups showed that there was a difference in the frequency between CLP and control (OR=5, 95% CI: 1.61-15.53, P=0.11); however, this result was not significant. Genotype analysis showed significant differences in patients from the CLP subgroup in comparison with controls for homozygous (AA compared with GG) (OR=9.00, 95% CI: 1.03–78.58, P=0.03), heterozygous (GA compared with GG) (OR=5.50, 95% CI: 1.05-28.75, P=0.04,), recessive (GG compared with GA + AA) (OR=6.67, 95% CI: 1.61-27.58; RR=4.78, 95% CI: 1.42–16.10, P=0.008,) and co-dominant (GG compared with GA, compared with AA) (P=0.02) inheritance models. Diplotype analysis showed that the NSCL/P group was more likely to have the [CC]-[GG] diplotype than the comparison group. This diplotype carries the risk GG genotype (rs861019) (30.4%) and does not carry the risk T allele(rs2235371). In the CLP subgroup, two diplotypes ([CT]-[GG] and [CC]-[GG]) were found more often than in the comparison group. Both diplotypes carry the risk GG genotype(rs861019; 33.3%). In the CPO subgroup, the [CT]-[GG] diplotype was more common. In the CLO subgroup, only two diplotypes ([CC]-[GA] and ... Article in Journal/Newspaper Yakuts Directory of Open Access Journals: DOAJ Articles International Journal of Biomedicine 11 4 570 575 |
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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 irf6 gene yakuts haplotype diplotype rs2235371 rs861019 Medicine R |
spellingShingle |
orofacial cleft irf6 gene yakuts haplotype diplotype rs2235371 rs861019 Medicine R Nadezhda I. Pavlova Aleksandra T. Diakonova Vladislav A. Alekseev Lyubov S. Mironova Vladimir V. Dodokhov Khariton A. Kurtanov Innokenty D. Ushnitsky Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population |
topic_facet |
orofacial cleft irf6 gene yakuts haplotype diplotype rs2235371 rs861019 Medicine R |
description |
Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects. NSCL/P can be broadly divided into cleft lip only (CLO), cleft palate only (CPO), and cleft lip with cleft palate (CLP) based on clinical presentation. The aim of this study was to investigate the relationship between the IRF6 gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population. Methods and Results: In 23 OFC patients and 58 unrelated control subjects from the Yakut population, we tested two SNPs (rs2235371 and rs861019) with a minor allele frequency of more than 5% in the candidate gene IRF6. We found that the SNP marker rs861019 showed significant differences in allele frequencies (OR=2.07, 95%CI: 1.01–4.23, P=0.04) between the NSCL/P patients and the comparison group. Analysis of allele frequencies for rs861019 SNP in subgroups showed that there was a difference in the frequency between CLP and control (OR=5, 95% CI: 1.61-15.53, P=0.11); however, this result was not significant. Genotype analysis showed significant differences in patients from the CLP subgroup in comparison with controls for homozygous (AA compared with GG) (OR=9.00, 95% CI: 1.03–78.58, P=0.03), heterozygous (GA compared with GG) (OR=5.50, 95% CI: 1.05-28.75, P=0.04,), recessive (GG compared with GA + AA) (OR=6.67, 95% CI: 1.61-27.58; RR=4.78, 95% CI: 1.42–16.10, P=0.008,) and co-dominant (GG compared with GA, compared with AA) (P=0.02) inheritance models. Diplotype analysis showed that the NSCL/P group was more likely to have the [CC]-[GG] diplotype than the comparison group. This diplotype carries the risk GG genotype (rs861019) (30.4%) and does not carry the risk T allele(rs2235371). In the CLP subgroup, two diplotypes ([CT]-[GG] and [CC]-[GG]) were found more often than in the comparison group. Both diplotypes carry the risk GG genotype(rs861019; 33.3%). In the CPO subgroup, the [CT]-[GG] diplotype was more common. In the CLO subgroup, only two diplotypes ([CC]-[GA] and ... |
format |
Article in Journal/Newspaper |
author |
Nadezhda I. Pavlova Aleksandra T. Diakonova Vladislav A. Alekseev Lyubov S. Mironova Vladimir V. Dodokhov Khariton A. Kurtanov Innokenty D. Ushnitsky |
author_facet |
Nadezhda I. Pavlova Aleksandra T. Diakonova Vladislav A. Alekseev Lyubov S. Mironova Vladimir V. Dodokhov Khariton A. Kurtanov Innokenty D. Ushnitsky |
author_sort |
Nadezhda I. Pavlova |
title |
Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population |
title_short |
Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population |
title_full |
Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population |
title_fullStr |
Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population |
title_full_unstemmed |
Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population |
title_sort |
association of the irf6 rs2235371 and rs861019 polymorphisms with non-syndromic cleft lip with or without cleft palate in the yakut population |
publisher |
International Medical Research and Development Corporation |
publishDate |
2021 |
url |
https://doi.org/10.21103/Article11(4)_OA28 https://doaj.org/article/b7e43c3a241e4d7eab6a130116963db8 |
genre |
Yakuts |
genre_facet |
Yakuts |
op_source |
International Journal of Biomedicine, Vol 11, Iss 4, Pp 570-575 (2021) |
op_relation |
http://ijbm.org/articles/i44/ijbm_11(4)_oa28.pdf https://doaj.org/toc/2158-0510 https://doaj.org/toc/2158-0529 doi:10.21103/Article11(4)_OA28 2158-0510 2158-0529 https://doaj.org/article/b7e43c3a241e4d7eab6a130116963db8 |
op_doi |
https://doi.org/10.21103/Article11(4)_OA28 |
container_title |
International Journal of Biomedicine |
container_volume |
11 |
container_issue |
4 |
container_start_page |
570 |
op_container_end_page |
575 |
_version_ |
1766236326113312768 |