Polymorphisms of the matrix metalloproteinase genes are associated with essential hypertension in a Caucasian population of Central Russia
| Autor: | Evgeny Reshetnikov, Volodymyr Dvornyk, Mikhail Churnosov, Irina Ponomarenko, M I Moskalenko |
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| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Science Single-nucleotide polymorphism 030204 cardiovascular system & hematology Biology MMP8 Polymorphism Single Nucleotide Article Russia 03 medical and health sciences 0302 clinical medicine Genetic model Humans Genetic Predisposition to Disease Allele Extracellular matrix disassembly Genetic Association Studies Genetic association study Genetics Multidisciplinary Genetic interaction Middle Aged Matrix Metalloproteinases Matrix Metalloproteinase 8 030104 developmental biology Matrix Metalloproteinase 9 Matrix Metalloproteinase 7 Metalloendopeptidase activity Expression quantitative trait loci Matrix Metalloproteinase 2 Medicine Epistasis Female Matrix Metalloproteinase 3 Essential Hypertension Matrix Metalloproteinase 1 |
| Zdroj: | Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021) Scientific Reports |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-021-84645-4 |
| Popis: | This study aimed to determine possible association of eight polymorphisms of seven MMP genes with essential hypertension (EH) in a Caucasian population of Central Russia. Eight SNPs of the MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, and MMP12 genes and their gene–gene (epistatic) interactions were analyzed for association with EH in a cohort of 939 patients and 466 controls using logistic regression and assuming additive, recessive, and dominant genetic models. The functional significance of the polymorphisms associated with EH and 114 variants linked to them (r2 ≥ 0.8) was analyzed in silico. Allele G of rs11568818 MMP7 was associated with EH according to all three genetic models (OR = 0.58–0.70, pperm = 0.01–0.03). The above eight SNPs were associated with the disorder within 12 most significant epistatic models (OR = 1.49–1.93, pperm MMP8 and rs11568818 MMP7 contributed to the largest number of the models (12 and 10, respectively). The EH-associated loci and 114 SNPs linked to them had non-synonymous, regulatory, and eQTL significance for 15 genes, which contributed to the pathways related to metalloendopeptidase activity, collagen degradation, and extracellular matrix disassembly. In summary, eight studied SNPs of MMPs genes were associated with EH in the Caucasian population of Central Russia. |
| Databáze: | OpenAIRE |
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