Dataset of allele and genotype frequencies of the three functionally significant polymorphisms of the MMP genes in Russian patients with primary open-angle glaucoma, essential hypertension and peptic ulcer

Minyaylo, Oksana; Starikova, Dina; Moskalenko, Maria; Ponomarenko, Irina; Reshetnikov, Evgeny; Dvornyk, Volodymyr; Чурносов, М. И.

doi:10.1016/j.dib.2020.106004

“…Caucasians with rs17576 showed a decreased risk of developing glaucoma [ 139 ]. In addition to the direct risk of glaucoma development, rs17576 is likely to increase hypertension [ 140 ] and diabetes incidence [ 141 ], which are other factors that increase the risk of glaucoma development [ 129 , 142 ].…”

Section: Resultsmentioning

confidence: 99%

Matrix Metalloproteinases and Glaucoma

Kim¹,

Lim

²

2022

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Matrix metalloproteinases (MMPs) are enzymes that decompose extracellular matrix (ECM) proteins. MMPs are thought to play important roles in cellular processes, such as cell proliferation, differentiation, angiogenesis, migration, apoptosis, and host defense. MMPs are distributed in almost all intraocular tissues and are involved in physiological and pathological mechanisms of the eye. MMPs are also associated with glaucoma, a progressive neurodegenerative disease of the eyes. MMP activity affects intraocular pressure control and apoptosis of retinal ganglion cells, which are the pathological mechanisms of glaucoma. It also affects the risk of glaucoma development based on genetic pleomorphism. In addition, MMPs may affect the treatment outcomes of glaucoma, including the success rate of surgical treatment and side effects on the ocular surface due to glaucoma medications. This review discusses the various relationships between MMP and glaucoma.

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“…Желатиназа В (MMP-9) является основным участником протеолитической деградации внеклеточного матрикса, а также множества нематриксных белков, модулируя эмбриональный рост и развитие, ангиогенез, сосудистые заболевания, воспаление, инфекционные процессы, опухолевую прогрессию, различные аспекты иммунного ответа, апоптоз, клеточную пролиферацию, дифференцировку и миграцию иммунных клеток, высвобождая цитокины и факторы роста [5,6]. Высокая степень полиморфности генов матриксных металлопротеиназ и носительство различных аллельных вариантов, определяющих уровень ферментативной активности, а также внешние факторы, способствующие реализации наследственной информации (например, ароматические углеводороды), могут рассматриваться в качестве потенциальных участников патологических процессов, в том числе и аллергических (атопических) заболеваний [7,8].…”

unclassified

Risk of allergy and its immune phenotypes in children with MMP9 Q279R gene polymorphism

Starkova¹,

Dolgikh²,

Legostaeva³

et al. 2022

Health Risk Analysis

3

0

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Scientific research with its focus on allergic diseases relies on up-to-date molecular-genetic methods for identifying individual genetic variability; it seems an important stage in the implementation of programs with their aim to early detect and mitigate risks of such diseases. In this study, our aim was to identify features of immune regulation associated with Q279R MMP9 gene polymorphism (rs17576) and benzene contamination in biological media in children with allergic diseases. The test group included 33 children with allergic diseases; the reference group consisted of 40 relatively healthy children. CD-markers were identified with flow cytometry. Genotyping was performed with a real-time polymerase chain reaction. The research revealed elevated levels of total IgE, IL-4 and TNFalfa under elevated benzene contamination in biological media that were by 1.2–4.2 times higher in the examined children with allergic diseases than in the reference group (р = 0.006–0.03). Q279R MMP9 gene polymorphismin in children from the test group had authentically more frequent oc-currence of the GG and AG genotypes, by 1.7 times higher than in the reference group. This allows considering the allele G of the MMP9 gene as a sensitivity marker in children with allergic diseases (OR = 2.34; 95 % CI = 1.17–4.65). We established a growth by 2.8 times in total IgE level and greater IL-4 and TNFalfa expression, by 1.4 and 1.3 times accordingly, in carriers of the allele G against those carrying the homozygote AA genotype among the examined children with allergic diseases (р = 0.020–0.042). Logistic regression analysis established the adequacy of the dominant model (p = 0.01) and revealed a possible association between carriage of the AG and GG genotypes of Q279R MMP9 gene polymorphism and developing allergy (OR = 3.61; 95 % CI = 1.34–9.71). A risk of developing allergy combined with benzene contamination in biological media and gene polymorphism of matrix metalloproteinase MMP9 (rs17576) is by 2.1 times higher for the allele G carriers against the AA genotype carriers (RR = 2.08; 95 % CI = 1.13–3.83). This allows considering the allele G of the MMP9 Q279R gene as a sensitivity marker in children with allergic diseases.

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“…It modulates embryonic growth and development, angiogenesis, vascular diseases, inflammation, infectious processes, tumor growth, various aspects of the immune response, apoptosis, cell proliferation, differentiation and migration of immune cells; it releases some cytokines and growth factors [5,6]. High polymorphism of matrix metalloproteinase genes and carriage of variable allele variants that determine enzymatic activity as well as external factors that can put hereditary information into effect (aromatic hydrocarbons, for example), can be considered potentially able to contribute significantly to pathological processes, allergic (atopic) diseases included [7,8].…”

mentioning

confidence: 99%

Risk of allergy and its immune phenotypes in children with MMP9 Q279R gene polymorphism

Starkova¹,

Dolgikh²,

Legostaeva³

et al. 2022

Health Risk Analysis

0

View full text Add to dashboard Cite

Scientific research with its focus on allergic diseases relies on up-to-date molecular-genetic methods for identifying individual genetic variability; it seems an important stage in the implementation of programs with their aim to early detect and mitigate risks of such diseases. In this study, our aim was to identify features of immune regulation associated with Q279R MMP9 gene polymorphism (rs17576) and benzene contamination in biological media in children with allergic diseases. The test group included 33 children with allergic diseases; the reference group consisted of 40 relatively healthy children. CD-markers were identified with flow cytometry. Genotyping was performed with a real-time polymerase chain reaction. The research revealed elevated levels of total IgE, IL-4 and TNFalfa under elevated benzene contamination in biological media that were by 1.2–4.2 times higher in the examined children with allergic diseases than in the reference group (р = 0.006–0.03). Q279R MMP9 gene polymorphismin in children from the test group had authentically more frequent oc-currence of the GG and AG genotypes, by 1.7 times higher than in the reference group. This allows considering the allele G of the MMP9 gene as a sensitivity marker in children with allergic diseases (OR = 2.34; 95 % CI = 1.17–4.65). We established a growth by 2.8 times in total IgE level and greater IL-4 and TNFalfa expression, by 1.4 and 1.3 times accordingly, in carriers of the allele G against those carrying the homozygote AA genotype among the examined children with allergic diseases (р = 0.020–0.042). Logistic regression analysis established the adequacy of the dominant model (p = 0.01) and revealed a possible association between carriage of the AG and GG genotypes of Q279R MMP9 gene polymorphism and developing allergy (OR = 3.61; 95 % CI = 1.34–9.71). A risk of developing allergy combined with benzene contamination in biological media and gene polymorphism of matrix metalloproteinase MMP9 (rs17576) is by 2.1 times higher for the allele G carriers against the AA genotype carriers (RR = 2.08; 95 % CI = 1.13–3.83). This allows considering the allele G of the MMP9 Q279R gene as a sensitivity marker in children with allergic diseases.

show abstract

Dataset of allele and genotype frequencies of the three functionally significant polymorphisms of the MMP genes in Russian patients with primary open-angle glaucoma, essential hypertension and peptic ulcer

Cited by 3 publications

References 44 publications

Matrix Metalloproteinases and Glaucoma

Matrix Metalloproteinases and Glaucoma

Risk of allergy and its immune phenotypes in children with MMP9 Q279R gene polymorphism

Risk of allergy and its immune phenotypes in children with MMP9 Q279R gene polymorphism

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