Studying the association between methylenetetrahydrofolate reductase (<scp>MTHFR</scp>) 677 gene polymorphism, cardiovascular risk and lichen planus

Rashed, Laila; Hay, Rania Abdel; Alkaffas, Marwa; Ali, Shereen; Kadry, Dina; Abdallah, Sara J.

doi:10.1111/jop.12588

Cited by 11 publications

(3 citation statements)

References 24 publications

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“…Эпидемиологические исследования, демонстрирующие связь данного гена с АД, показывают, что риск выявить АГ на 24-87% выше у носителей мутантного генотипа Т/Т [24]. Более того, полиморфизм указанного гена предрасполагает пациентов с АГ к более высокому сердечно-сосудистому риску [25]. У коренного населения Камеруна аллель Т является маркером развития повышенного АД [26].…”

Section: Discussionunclassified

Associations of Cardiovascular Risk Factors and Genetic Markers with Development of Arterial Hypertension in the Population of Mountain Shoriya

Мулерова

Максимов

Ogarkov

et al. 2018

Racionalʹnaâ farmakoterapiâ v kardiologii

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комплексных проблем сердечно-сосудистых заболеваний Россия, 650002, Кемерово, Сосновый бульвар, 6 2 Новокузнецкий институт усовершенствования врачей -филиал Российской медицинской академии непрерывного профессионального образования. Россия, 654006, Новокузнецк, пр. Строителей, 5 3 Научно-исследовательский институт терапии и профилактической медицины -филиал Федерального исследовательского центра Институт цитологии и генетики Сибирского отделения Российской академии наук. Россия, 630089, Новосибирск, ул. Бориса Богаткова, 175/1 Цель. Изучить сочетанное влияние факторов сердечно-сосудистого риска и генетических маркеров, кодирующих белки основных компонентов нейрофизиологических систем (ренин-ангиотензин-альдостероновой и симпатико-адреналовой систем, эндотелиальной дисфункции) на развитие артериальной гипертензии (АГ) у коренного и некоренного населения Горной Шории. Материал и методы. Проведено клинико-эпидемиологическое исследование компактно проживающего населения в труднодоступных районах Горной Шории. Данный регион среднегорья расположен на юге Западной Сибири. Обследовано 1409 человек (901 человекапредставители коренной национальности [шорцы], 508 человек -представители некоренной национальности [90% из них -европеоиды]). Диагноз АГ выставлялся в соответствии с рекомендациями Всероссийского научного общества кардиологов и Российского медицинского общества по артериальной гипертонии (2010). Всем респондентам проводилось общеклиническое лабораторно-инструментальное обследование. Полиморфизмы генов ACE (I/D, rs 4340), АGT (c.803T>C, rs699), AGTR1 (А1166С, rs5186), ADRB1 (с.145A>G, Ser49Gly, rs1801252), ADRA2B (I/D, rs 28365031), MTHFR (c.677С>Т, Ala222Val, rs1801133) и NOS3 (VNTR, 4b/4a) тестировали с помощью полимеразной цепной реакции. Результаты. В когорте шорцев с АГ ассоциировались факторы сердечно-сосудистого риска: гиперхолестеринемия (отношение шансов [ОШ 1,54], гипербетахолестеринемия [ОШ 1,48], нарушения углеводного обмена [ОШ 1,53], ожирение [ОШ 2,25], включая абдоминальный тип [ОШ 1,53], семейный анамнез ранних сердечно-сосудистых заболеваний [ОШ 1,88]) и полиморфизмы rs4340 гена АСЕ (ОШ 4,39), rs5186 гена AGTR1 (ОШ 10,02); в когорте некоренного этноса -гиперхолестеринемия (ОШ 1,87), гипертриглицеридемия (ОШ 1,87), ожирение (ОШ 2,75), абдоминальное ожирение (ОШ 2,73), семейный анамнез ранних сердечно-сосудистых заболеваний (ОШ 2,48), полиморфизм rs5186 гена AGTR1 (ОШ 26,77). Генотип G/G гена ADRB1 характеризовался протективным эффектом в отношении АГ у шорцев. Заключение. Оценка комплексного влияния клинических и генетических факторов на развитие АГ у населения Горной Шории продемонстрировала их сопоставимую значимость среди коренного населения и преимущественную значимость негенетических факторов среди некоренного населения. Ключевые слова: артериальная гипертензия, этнические когорты, факторы сердечно-сосудистого риска, полиморфизм генов-кандидатов.

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Section: Discussionunclassified

Associations of Cardiovascular Risk Factors and Genetic Markers with Development of Arterial Hypertension in the Population of Mountain Shoriya

Мулерова

Максимов

Ogarkov

et al. 2018

Racionalʹnaâ farmakoterapiâ v kardiologii

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“…Elevated homocysteine levels were observed in individuals with LP, and this could potentially serve as an indicator for predicting CVD. Moreover, the polymorphism of the methylenetetrahydrofolate reductase gene might act as a potential risk factor for LP development, making these patients more susceptible to an increased risk of CVD [127][128][129].…”

Section: Lichen Planus (Lp)mentioning

confidence: 99%

The Renin-Angiotensin System: The Challenge behind Autoimmune Dermatological Diseases

Maranduca,

Cosovanu,

Clim

et al. 2023

Diagnostics

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Autoimmune dermatological diseases (AIDD) encompass a diverse group of disorders characterized by aberrant immune responses targeting the skin and its associated structures. In recent years, emerging evidence suggests a potential involvement of the renin–angiotensin system (RAS) in the pathogenesis and progression of these conditions. RAS is a multicomponent cascade, primarily known for its role in regulating blood pressure and fluid balance. All of the RAS components play an important role in controlling inflammation and other immune responses. Angiotensin II, the main effector, acts on two essential receptors: Angiotensin Receptor 1 and 2 (AT1R and AT2R). A disturbance in the axis can lead to many pathological processes, including autoimmune (AI) diseases. AT1R activation triggers diverse signaling cascades involved in inflammation, fibrosis and tissue remodeling. Experimental studies have demonstrated the presence of AT1R in various cutaneous cells and immune cells, further emphasizing its potential contribution to the AI processes in the skin. Furthermore, recent investigations have highlighted the role of other RAS components, beyond angiotensin-converting enzyme (ACE) and Ang II, that may contribute to the pathophysiology of AIDD. Alternative pathways involving ACE2, Ang receptors and Ang-(1-7) have been implicated in regulating immune responses and tissue homeostasis within the skin microenvironment. Understanding the intricate involvement of the RAS in AIDD may provide novel therapeutic opportunities. Targeting specific components of the RAS, such as angiotensin receptor blockers (ARBs), ACE inhibitors (ACEIs) or alternative RAS pathway modulators, could potentially ameliorate inflammatory responses, reduce tissue damage and lessen disease manifestations. Further research is warranted to outline the exact mechanisms underlying RAS-mediated immune dysregulation in AIDD. This abstract aims to provide a concise overview of the intricate interplay between the RAS and AIDD. Therefore, we elaborate a systematic review of the potential challenge of RAS in the AIDD, including psoriasis, systemic sclerosis, vitiligo, lupus erythematosus and many more.

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“…It is a homologous  Building a molecular typing protocol for rs1801133 based on real-time PCR HRM technique form of the cysteine amino acid but differs from the -CH2 moiety [6]. High levels of homocysteine in the blood are often associated with increased cardiovascular risk, neurological diseases, miscarriage, cancer, infertility in different populations and races [7][8][9][10][11]. In addition, this SNP is associated with the prognosis of treatment with anticancer drugs.…”

Section: Introduction Ethylenetetrahydrofolate Reductase (Mthfr)mentioning

confidence: 99%

Building a molecular typing protocol for rs1801133 based on real-time PCR HRM technique

Tran¹,

Nguyen²,

Le³

et al. 2019

Sci. Tech. Dev. J. - Nat. Sci.

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rs1801133 is a single nucleotide polymorphism (SNP) located in the sequence of MTHFR on human chromosome 1. The alleles of this SNP affect the activity of the MTHFR enzyme. People bearing C/T genotype have 66% activity of MTHFR while people with T/T genotype have only 25% activity. These reduced activities of MTHFR cause homocysteinemia. There are several publications on the relationship between homocysteinemia and human diseases such as cardiovascular disease, neurological diseases, abnormal fetus, infertility and cancer. In this study, we built a molecular protocol for genotyping rs1801133 using real-time PCR HRM technique. This protocol could be used for diagnosis of molecular mechanism of homocysteinemia causing the mentoned above diseases as well as for the study of the relationship between rs1801133 and other human diseases. We successfully designed the primer pairs for genotyping and nucleotide sequencing rs1801133 by real-time PCR HRM and Sanger sequencing method. We also examined the optimal MgCl2 concentration for clear differentiation of three rs1801133 genotypes. Performance characteristics of the real-time PCR HRM protocol included of specificity, repeatability, reproducibility was evaluated and it showed good results. Comparison of genotyping results of rs1801133 between the realtime PCR HRM method and the Sanger nucleotide sequencing method showed good concordances. Finally, this real-time PCR HRM protocol for rs1801133 genotyping was applied on 100 human DNA samples to evaluate the clinical utility of the protocol.

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Studying the association between methylenetetrahydrofolate reductase (MTHFR) 677 gene polymorphism, cardiovascular risk and lichen planus

Abstract: MTHFR 677 gene polymorphism may be a risk factor for the development of the LP, and to predispose these patients to higher risk of CVD.

Cited by 11 publications

References 24 publications

Associations of Cardiovascular Risk Factors and Genetic Markers with Development of Arterial Hypertension in the Population of Mountain Shoriya

Associations of Cardiovascular Risk Factors and Genetic Markers with Development of Arterial Hypertension in the Population of Mountain Shoriya

The Renin-Angiotensin System: The Challenge behind Autoimmune Dermatological Diseases

Building a molecular typing protocol for rs1801133 based on real-time PCR HRM technique

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