MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts
The aim of our study was to investigate the relationship between the MDR1 and MTHFR gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population in the Republic of Sakha (Yakutia). Methods and Results: The sample of examined persons consisted of 60 chi...
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International Medical Research and Development Corporation
2021
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ftdoajarticles:oai:doaj.org/article:c306a2ec034a472fbd003ce7154fc1da 2023-05-15T18:06:47+02:00 MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts Aleksandra T. Diakonova Nadezhda I. Pavlova Vladislav A. Alekseev Lyubov S. Mironova Khariton A. Kurtanov Vladimir V. Dodokhov Innokenty D. Ushnitsky 2021-12-01T00:00:00Z https://doi.org/10.21103/Article11(4)_OA29 https://doaj.org/article/c306a2ec034a472fbd003ce7154fc1da EN eng International Medical Research and Development Corporation http://ijbm.org/articles/i44/ijbm_11(4)_oa29.pdf https://doaj.org/toc/2158-0510 https://doaj.org/toc/2158-0529 doi:10.21103/Article11(4)_OA29 2158-0510 2158-0529 https://doaj.org/article/c306a2ec034a472fbd003ce7154fc1da International Journal of Biomedicine, Vol 11, Iss 4, Pp 576-580 (2021) orofacial cleft mdr1 gene mthfr gene single nucleotide polymorphism Medicine R article 2021 ftdoajarticles https://doi.org/10.21103/Article11(4)_OA29 2022-12-31T03:32:11Z The aim of our study was to investigate the relationship between the MDR1 and MTHFR gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population in the Republic of Sakha (Yakutia). Methods and Results: The sample of examined persons consisted of 60 children with NSCL/P. The NSCL/P group was divided into the CLP (cleft lip with cleft palate) subgroup (n=31), CLO (cleft lip only) subgroup (n=14), and CPO (cleft palate only) subgroup (n=15). The comparison group (control) included 174 healthy volunteers who did not have relatives with OFCs. The study of the MDR1 rs1045642 SNP and the MTHFR rs1801133 SNP was performed by PCR and RFLP analysis. Analysis of the frequency distribution of alleles and genotypes depending on the severity of clefts showed that the carriage of the TT homozygous genotype of the MDR1 rs1045642 SNP was associated with significant risk for the development of NSCL/P (OR=2.52, 95% CI: 1.19-5.32, P=0.02). Analysis of the recessive model (TT vs CC + TC) also found a significant risk of NSCL/P with the TT genotype carriage (OR=2.20, 95% CI: 1.06-4.57, P=0.04). Analysis of the over-dominant model (TC vs TT + CC) showed that the heterozygous TC genotype had a protective effect (OR=0.41; 95% CI: 0.22-0.77, P=0.01) on the development of NSCL/P. Subgroup analysis according to NSCL/P subtypes (CLO, CPO and CLP) showed that the MDR1 rs1045642 SNP was significantly associated with a high risk of CPO in three genetic models: heterozygous [(TT vs TC): OR=5.03; 95% CI: 1.55-16.32; P=0.01], recessive [(TT vs CC + TC): OR=3.96; 95% CI: 1.32-11.95; P=0.02], and over-dominant [(TC vs TT + CC): OR=0.23; 95% CI: 0.08-0.66; P=0.01]. Conclusion: A study of two SNPs in the MDR1and MTHFR genes revealed a statistically significant increased risk for NSCL/P in carriers of the TT genotype of the MDR1 rs1045642 SNP. Article in Journal/Newspaper Republic of Sakha Yakutia Directory of Open Access Journals: DOAJ Articles Sakha International Journal of Biomedicine 11 4 576 580 |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
orofacial cleft mdr1 gene mthfr gene single nucleotide polymorphism Medicine R |
spellingShingle |
orofacial cleft mdr1 gene mthfr gene single nucleotide polymorphism Medicine R Aleksandra T. Diakonova Nadezhda I. Pavlova Vladislav A. Alekseev Lyubov S. Mironova Khariton A. Kurtanov Vladimir V. Dodokhov Innokenty D. Ushnitsky MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts |
topic_facet |
orofacial cleft mdr1 gene mthfr gene single nucleotide polymorphism Medicine R |
description |
The aim of our study was to investigate the relationship between the MDR1 and MTHFR gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population in the Republic of Sakha (Yakutia). Methods and Results: The sample of examined persons consisted of 60 children with NSCL/P. The NSCL/P group was divided into the CLP (cleft lip with cleft palate) subgroup (n=31), CLO (cleft lip only) subgroup (n=14), and CPO (cleft palate only) subgroup (n=15). The comparison group (control) included 174 healthy volunteers who did not have relatives with OFCs. The study of the MDR1 rs1045642 SNP and the MTHFR rs1801133 SNP was performed by PCR and RFLP analysis. Analysis of the frequency distribution of alleles and genotypes depending on the severity of clefts showed that the carriage of the TT homozygous genotype of the MDR1 rs1045642 SNP was associated with significant risk for the development of NSCL/P (OR=2.52, 95% CI: 1.19-5.32, P=0.02). Analysis of the recessive model (TT vs CC + TC) also found a significant risk of NSCL/P with the TT genotype carriage (OR=2.20, 95% CI: 1.06-4.57, P=0.04). Analysis of the over-dominant model (TC vs TT + CC) showed that the heterozygous TC genotype had a protective effect (OR=0.41; 95% CI: 0.22-0.77, P=0.01) on the development of NSCL/P. Subgroup analysis according to NSCL/P subtypes (CLO, CPO and CLP) showed that the MDR1 rs1045642 SNP was significantly associated with a high risk of CPO in three genetic models: heterozygous [(TT vs TC): OR=5.03; 95% CI: 1.55-16.32; P=0.01], recessive [(TT vs CC + TC): OR=3.96; 95% CI: 1.32-11.95; P=0.02], and over-dominant [(TC vs TT + CC): OR=0.23; 95% CI: 0.08-0.66; P=0.01]. Conclusion: A study of two SNPs in the MDR1and MTHFR genes revealed a statistically significant increased risk for NSCL/P in carriers of the TT genotype of the MDR1 rs1045642 SNP. |
format |
Article in Journal/Newspaper |
author |
Aleksandra T. Diakonova Nadezhda I. Pavlova Vladislav A. Alekseev Lyubov S. Mironova Khariton A. Kurtanov Vladimir V. Dodokhov Innokenty D. Ushnitsky |
author_facet |
Aleksandra T. Diakonova Nadezhda I. Pavlova Vladislav A. Alekseev Lyubov S. Mironova Khariton A. Kurtanov Vladimir V. Dodokhov Innokenty D. Ushnitsky |
author_sort |
Aleksandra T. Diakonova |
title |
MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts |
title_short |
MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts |
title_full |
MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts |
title_fullStr |
MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts |
title_full_unstemmed |
MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts |
title_sort |
mthfr and mdr1 gene polymorphisms in yakut patients with non-syndromic orofacial clefts |
publisher |
International Medical Research and Development Corporation |
publishDate |
2021 |
url |
https://doi.org/10.21103/Article11(4)_OA29 https://doaj.org/article/c306a2ec034a472fbd003ce7154fc1da |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Republic of Sakha Yakutia |
genre_facet |
Republic of Sakha Yakutia |
op_source |
International Journal of Biomedicine, Vol 11, Iss 4, Pp 576-580 (2021) |
op_relation |
http://ijbm.org/articles/i44/ijbm_11(4)_oa29.pdf https://doaj.org/toc/2158-0510 https://doaj.org/toc/2158-0529 doi:10.21103/Article11(4)_OA29 2158-0510 2158-0529 https://doaj.org/article/c306a2ec034a472fbd003ce7154fc1da |
op_doi |
https://doi.org/10.21103/Article11(4)_OA29 |
container_title |
International Journal of Biomedicine |
container_volume |
11 |
container_issue |
4 |
container_start_page |
576 |
op_container_end_page |
580 |
_version_ |
1766178461097918464 |