Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia

Dvornyk, Volodymyr; Ponomarenko, Irina; Minyaylo, Oksana; Reshetnikov, Evgeny; Churnosov, Mikhail

doi:10.1371/journal.pone.0257060

Cited by 13 publications

(10 citation statements)

References 76 publications

(99 reference statements)

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“…It was also possible to determine the genotypic and allelic frequencies of the three MMP SNPs, with high rate of successful genotyping and within the HWE. All minor allele frequencies were in accordance with previous studies [ 18 , 36 , 37 , 38 , 39 , 40 , 41 ]. The MMP-9 rs17576G allele frequency is 30.1% in the Chinese population (N = 1007) [ 40 ], 37.1% in the Romanian population (N = 197) [ 39 ], 21% in the Egyptian population (N = 100) [ 37 ], 36.1% in the Russian population (N = 347) [ 41 ] and 36.2% in the Slovenian population (N = 161) [ 38 ].…”

Section: Discussionsupporting

confidence: 89%

Chronic Cadmium Exposure and Genetic Polymorphisms of MMP-2 and MMP-9 in a Population Exposed to Steel Slag in the State of Rio de Janeiro, Brazil: A Cross-Sectional Study

Perini

Silva

Correa

et al. 2022

IJERPH

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Genetic polymorphisms in the matrix metalloproteinases (MMPs) family genes may be associated with cadmium (Cd) levels and its adverse effects. This study investigated the impact of MMP-2 and MMP-9 polymorphisms on Cd levels in 238 residents of a condominium in Rio de Janeiro, Brazil, built over an industrial steel slag waste. Polymorphisms were genotyped using TaqMan validated assays, and the Cd levels were measured in blood (BCd) and urine (UCd) samples by atomic absorption spectrometry. Associations were evaluated by linear correlation coefficients and multiple logistic regression, using odds ratios (OR) and 95% confidence intervals (CI). Mean age was 50 ± 15 years; 58% were female, 69% non-smokers. Mean concentrations for BCd and UCd were 0.70 ± 0.2 μg L−1 and 0.56 ± 0.55 μg L−1, respectively. Smoking status was associated with BCd ≥ 0.70 μg L−1 (OR = 2.9; 95% CI = 1.6–5.9). MMP-9 rs17576 A > G was associated with BCd ≥ 0.70 μg L−1 (OR = 2.11; 95% CI = 1.10–4.05) and UCd ≥ 0.56 μg L−1 (OR = 3.38; 95% CI = 1.82–7.65). Knowing possible individual predisposing factors is essential to understand Cd toxicity, and to improve the monitoring of high-risk populations.

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Section: Discussionsupporting

confidence: 89%

Chronic Cadmium Exposure and Genetic Polymorphisms of MMP-2 and MMP-9 in a Population Exposed to Steel Slag in the State of Rio de Janeiro, Brazil: A Cross-Sectional Study

Perini

Silva

Correa

et al. 2022

IJERPH

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“…Previous studies have demonstrated the role of the 2G*rs1799750 MMP1 allele as a risk factor for both POAG, 13–15,17,20 PACG, 15,17 and exfoliation glaucoma. 17,27 According to our data, this allele is also associated with an earlier age of disease manifestation. However, we did not find a relationship between this locus and the risk of POAG in Caucasians from Central Russia.…”

Section: Discussionsupporting

confidence: 67%

“…26 Eight loci of the three MMP genes: MMP1 (rs1799750), MMP3 (rs679620), and MMP9 (rs3918249, rs17577, rs17576, rs3787268, rs2250889, rs3918242), were chosen. For MMP loci selection, the following criteria were applied 27,28 : 1) previously reported associations with glaucoma (POAG, etc. ), 2) epigenetic (regulatory) potential, 3) SNP minor allele frequency (MAF) > 0.05.…”

Section: Deoxyribonucleic Acid (Dna) Extraction Snps Selection and Ge...mentioning

confidence: 99%

Functionally significant polymorphisms of the MMP9 gene are associated with primary open-angle glaucoma in the population of Russia

Ponomarenko

Reshetnikov

Dvornyk

et al. 2022

European Journal of Ophthalmology

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Purpose The aim of this study was to investigate the role of functionally significant loci of the matrix metalloproteinases genes 1, 3, 9 ( MMP1, MMP3, and MMP9) in the development of primary open-angle glaucoma (POAG) in Caucasians of the Central region of Russia. Methods In total 604 participants were recruited for the study, including 208 patients with POAG and 396 healthy controls. They were genotyped at eight single nucleotide polymorphisms (SNPs) of the three MMP genes. The association was analyzed using logistic and log-linear regression. POAG-associated loci and their proxies were in silico assessed for their functional prediction. Results Variant allele G*rs2250889 of MMP9 was significantly associated with higher risk of POAG (ORcov = 1.57–1.71). Haplotype CCA [rs3918242-rs3918249-rs17576] of the MMP9 gene was associated with lower risk of POAG (ORcov = 0.33). Allele А*rs3787268 of MMP9 was associated with the low intraocular pressure in the POAG patients (βcov = −0.176 - −0.272), and so were haplotypes AA [rs17576-rs3787268] (βcov = −0.577) and AAC [rs17576-rs3787268- rs2250889] (βcov = −0.742) of the same gene, whereas allele 2G*rs1799750 of MMP1 was associated with the earlier onset of the disease (βcov = −0.112 - −0.218). In silico analysis of the polymorphisms suggested the functionality of POAG-associated SNPs and their proxies (epigenetic potential, expression and alternative splicing effects for several genes). Conclusions The MMP9 gene polymorphisms are associated with POAG and intraocular pressure in POAG patients; rs1799750 of MMP1 was associated with the earlier age of manifestation of the disease symptoms.

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“…To estimate the potential downstream functional effects of the AD-associated variants and their proxies (r 2 ≥0.8) [ 46 , 47 ], we used the available data of epigenetic effects (HaploReg [ 34 ]), non-synonymous functional predictions (SIFT and PolyPhen-2 databases [ 48 , 49 ]), expression and alternative splicing quantitative traits (GTExconsortium atlas, [ 50 ]). HaploReg and European population data of the 1000 Genomes Project Phase 1 were used to identify variants in close linkage disequilibrium (r 2 ≥ 0.8) with the AD-associated variants [ 51 , 52 ].…”

Section: Methodsmentioning

confidence: 99%

Filaggrin gene polymorphisms are associated with atopic dermatitis in women but not in men in the Caucasian population of Central Russia

et al. 2021

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Background and purpose This study aimed to analyze the gender-specific association of the filaggrin (FLG) gene polymorphisms with atopic dermatitis (AD) in Caucasians from the central region of Russia. Methods The study sample consisted of 906 female (including 474 patients with AD and 432 controls) and 406 male (such as 226 patients with AD and 180 controls) participants. Genotyping of ten polymorphisms of the FLG gene was done. The logistic regression was used to analyze the associations. A total of 125 SNPs (seven AD-associated SNPs and 118 proxy SNPs, r2≥0.8) FLG gene were used for the in silico functional annotation analysis in the females. Results Significant associations were identified between seven SNPs of the FLG gene (rs12130219, rs61816761, rs558269137, rs12144049, rs3126085, rs471144, rs6661961) and AD in females: rs12144049 was associated independent individually (for allele C OR = 1.71, 95%Сl 1.19–2.46, рperm = 0.004 and OR = 1.76, 95%Сl 1.18–2.63, рperm = 0.006 according to the additive and dominant genetic models, respectively) and seven SNPs of the FLG gene within 14 haplotypes. Haplotype GGT [rs61816761-rs3126085-rs12144049] showed the strongest association (OR = 0.55, рperm = 0.001). No association between the analyzed SNPs and AD was determined in the male group. The subsequent bioinformatic analysis predicted the SNPs of the FLG gene that possessed epigenetic and non-synonymous effects, were involved in the control of gene expression and alternative splicing of genes that contribute to AD pathophysiology. Conclusion Polymorphisms of the FLG gene are associated with AD in females but not in males in the Caucasian population of Central Russia.

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Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia

Cited by 13 publications

References 76 publications

Chronic Cadmium Exposure and Genetic Polymorphisms of MMP-2 and MMP-9 in a Population Exposed to Steel Slag in the State of Rio de Janeiro, Brazil: A Cross-Sectional Study

Chronic Cadmium Exposure and Genetic Polymorphisms of MMP-2 and MMP-9 in a Population Exposed to Steel Slag in the State of Rio de Janeiro, Brazil: A Cross-Sectional Study

Functionally significant polymorphisms of the MMP9 gene are associated with primary open-angle glaucoma in the population of Russia

Filaggrin gene polymorphisms are associated with atopic dermatitis in women but not in men in the Caucasian population of Central Russia

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