Polymorphisms of the matrix metalloproteinase 9 gene are associated with duodenal ulcer in a Caucasian population of Central Russia
Objectives: The aim of this study was to analyze functionally significant polymorphisms of matrix metalloproteinases genes (MMP-1, -2, -3, -8, -9) for their association with duodenal ulcer (DU) in the Caucasian population from Central Russia. Methods: The study sample included 364 DU patients (208 h...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-08-01
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| Series: | Journal of King Saud University: Science |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1018364722003238 |
| _version_ | 1818546941093478400 |
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| author | Oksana Minyaylo Irina Ponomarenko Evgeny Reshetnikov Volodymyr Dvornyk Mikhail Churnosov |
| author_facet | Oksana Minyaylo Irina Ponomarenko Evgeny Reshetnikov Volodymyr Dvornyk Mikhail Churnosov |
| author_sort | Oksana Minyaylo |
| collection | DOAJ |
| description | Objectives: The aim of this study was to analyze functionally significant polymorphisms of matrix metalloproteinases genes (MMP-1, -2, -3, -8, -9) for their association with duodenal ulcer (DU) in the Caucasian population from Central Russia. Methods: The study sample included 364 DU patients (208 had H. pylori and 156 were uninfected) and 347 controls (H. pylori-negative). Ten polymorphisms of the MMP-1, -2, -3, -8, -9 genes were examined for association with DU by the logistic regression analysis (used the three main genetic models). The polymorphisms of the MMP-9 gene associated with DU and 59 proxy variants (r2 ≥ 0.80) were studied in silico for their functionality. Results: Allele G of rs17576 and haplotype GG [rs17576-rs3787268] of the MMP-9 gene may increase risk for DU (adjOR = 1.46–2.09, pperm ≤ 0.006 and adjOR = 1.60, pperm = 0.016 respectively). Five SNPs of the MMP-9 gene may increase risk for H. pylori-positive DU: alleles T of rs3918242 (adjOR = 1.95, pperm = 0.007), G of rs17576 (adjOR = 1.68–2.81, pperm ≤ 0.002), and A of rs17577 (adjOR = 1.96, pperm = 0.008), haplotypes GG [rs17576-rs3787268] (adjOR = 1.95, pperm = 0.006) and GGC [rs17576-rs3787268-rs2250889] (adjOR = 1.96, pperm = 0.006). These loci and 59 proxy SNPs may have functionally significant epigenetic effects, amino acid replacements in the MMP9, and correlate with the expression and alternative splicing of 17 and 6 genes respectively. Conclusions: Polymorphisms rs17576 and rs3787268 of the MMP-9 were associated with DU and five MMP-9 gene SNPs were associated with H. pylori-related DU in Caucasians of Central Russia. |
| first_indexed | 2024-12-12T07:59:57Z |
| format | Article |
| id | doaj.art-13e2d936bc34416dba959d000941574d |
| institution | Directory Open Access Journal |
| issn | 1018-3647 |
| language | English |
| last_indexed | 2024-12-12T07:59:57Z |
| publishDate | 2022-08-01 |
| publisher | Elsevier |
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| series | Journal of King Saud University: Science |
| spelling | doaj.art-13e2d936bc34416dba959d000941574d2022-12-22T00:32:10ZengElsevierJournal of King Saud University: Science1018-36472022-08-01346102142Polymorphisms of the matrix metalloproteinase 9 gene are associated with duodenal ulcer in a Caucasian population of Central RussiaOksana Minyaylo0Irina Ponomarenko1Evgeny Reshetnikov2Volodymyr Dvornyk3Mikhail Churnosov4Department of Medical Biological Disciplines, Belgorod State University, 308015 Belgorod, RussiaDepartment of Medical Biological Disciplines, Belgorod State University, 308015 Belgorod, RussiaDepartment of Medical Biological Disciplines, Belgorod State University, 308015 Belgorod, RussiaDepartment of Life Sciences, College of Science and General Studies, Alfaisal University, 11533 Riyadh, Saudi ArabiaDepartment of Medical Biological Disciplines, Belgorod State University, 308015 Belgorod, Russia; Corresponding author at: Department of Medical Biological Disciplines, Belgorod State University, 85 Pobedy St., Belgorod, 308015, Russia.Objectives: The aim of this study was to analyze functionally significant polymorphisms of matrix metalloproteinases genes (MMP-1, -2, -3, -8, -9) for their association with duodenal ulcer (DU) in the Caucasian population from Central Russia. Methods: The study sample included 364 DU patients (208 had H. pylori and 156 were uninfected) and 347 controls (H. pylori-negative). Ten polymorphisms of the MMP-1, -2, -3, -8, -9 genes were examined for association with DU by the logistic regression analysis (used the three main genetic models). The polymorphisms of the MMP-9 gene associated with DU and 59 proxy variants (r2 ≥ 0.80) were studied in silico for their functionality. Results: Allele G of rs17576 and haplotype GG [rs17576-rs3787268] of the MMP-9 gene may increase risk for DU (adjOR = 1.46–2.09, pperm ≤ 0.006 and adjOR = 1.60, pperm = 0.016 respectively). Five SNPs of the MMP-9 gene may increase risk for H. pylori-positive DU: alleles T of rs3918242 (adjOR = 1.95, pperm = 0.007), G of rs17576 (adjOR = 1.68–2.81, pperm ≤ 0.002), and A of rs17577 (adjOR = 1.96, pperm = 0.008), haplotypes GG [rs17576-rs3787268] (adjOR = 1.95, pperm = 0.006) and GGC [rs17576-rs3787268-rs2250889] (adjOR = 1.96, pperm = 0.006). These loci and 59 proxy SNPs may have functionally significant epigenetic effects, amino acid replacements in the MMP9, and correlate with the expression and alternative splicing of 17 and 6 genes respectively. Conclusions: Polymorphisms rs17576 and rs3787268 of the MMP-9 were associated with DU and five MMP-9 gene SNPs were associated with H. pylori-related DU in Caucasians of Central Russia.http://www.sciencedirect.com/science/article/pii/S1018364722003238AssociationDuodenal ulcerH. pyloriMatrix metalloproteinasesSNP |
| spellingShingle | Oksana Minyaylo Irina Ponomarenko Evgeny Reshetnikov Volodymyr Dvornyk Mikhail Churnosov Polymorphisms of the matrix metalloproteinase 9 gene are associated with duodenal ulcer in a Caucasian population of Central Russia Journal of King Saud University: Science Association Duodenal ulcer H. pylori Matrix metalloproteinases SNP |
| title | Polymorphisms of the matrix metalloproteinase 9 gene are associated with duodenal ulcer in a Caucasian population of Central Russia |
| title_full | Polymorphisms of the matrix metalloproteinase 9 gene are associated with duodenal ulcer in a Caucasian population of Central Russia |
| title_fullStr | Polymorphisms of the matrix metalloproteinase 9 gene are associated with duodenal ulcer in a Caucasian population of Central Russia |
| title_full_unstemmed | Polymorphisms of the matrix metalloproteinase 9 gene are associated with duodenal ulcer in a Caucasian population of Central Russia |
| title_short | Polymorphisms of the matrix metalloproteinase 9 gene are associated with duodenal ulcer in a Caucasian population of Central Russia |
| title_sort | polymorphisms of the matrix metalloproteinase 9 gene are associated with duodenal ulcer in a caucasian population of central russia |
| topic | Association Duodenal ulcer H. pylori Matrix metalloproteinases SNP |
| url | http://www.sciencedirect.com/science/article/pii/S1018364722003238 |
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