Primary (Genetically Determined) Dilation Cardiomyopathy in a Patient With Novel Mutation of Lamin Gene: Clinical and Morphological Management

Благова, О В; Алиева, И. Н.; Недоступ, А. В.; Сулимов, В. А.; Kogan, Evgeniya; Shestak, Anna; Затейщиков, Д. А.; Заклязьминская, Е. В.

doi:10.15829/1728-8800-2017-4-76-82

Cited by 2 publications

(2 citation statements)

References 11 publications

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“…Если 95% ДИ включал в себя 1шансы обнаружить фактор риска в сравниваемых группах одинаковы и, соответственно, фактор не оказывал никакого влияния на вероятность исхода. [8][9][10].…”

Section: материал и методыunclassified

“…Анализируя литературные источники, мы отметили исследования, которые позволяют делать выводы о том, что нарушение работы в структуре гена SCN5A в разных вариантах может способствовать развитию ДКМП [6][7][8][9][10][11][12].…”

Section: материал и методыunclassified

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Association of SCN5A gene polymorphism with dilated cardiomyopathy

Nikulina

Kuznetsova

Чернова

et al. 2021

Racionalʹnaâ farmakoterapiâ v kardiologii

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Subjects and methods. The study included patients with IDC (group 1; n=111, 89.2% men, average age 51.7±9.7 years) and ICM (group 2; n=110, 91.5% men, average age 58.7±8.4 years). All patients (IDC and ICM) underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the group 1. And those patients who were reliably diagnosed with coronary artery disease were in the group 2, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. The control group (n=121, average age 53.6±4.8 years) included patients who had no manifestations of cardiovascular diseases. The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the A/G polymorphism of the SCN5A gene (rs1805124).Results. In the group with IDC 51.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype-40.5%, and the rare homozygous GG genotype-8.1%. In the control group 63.3% of patients were identified as carriers of a homozygous genotype by a common allele, and 33.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 3.2%. The analysis revealed a statistically significant decrease in the frequency of carrying the homozygous AA genotype in patients with IDC compared to the control group of the rs1805124 polymorphism of the SCN5A gene. In the group of patients with ICM, the А allele (69.5% vs. 80.1%, p=0.003) and the AA genotype (50.9% vs. 63.3%, p=0.030) were significantly less common than in the control group. The rare homozygous GG genotype was statically more common in patients with ICM compared to the control group (11.8% vs. 3.2%, p=0.004). Also, the G allele in the group of patients with ICM was detected statically significantly more often than in the control group (30.5% vs. 19.9%, p= 0.003).Conclusion. The polymorphic locus rs1805124 of the SCN5A gene is associated with both IDC and ICM. Homozygous genotype AA and allele A are conditionally protective factors for the development of these conditions in men.

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Section: материал и методыunclassified

Association of SCN5A gene polymorphism with dilated cardiomyopathy

Nikulina

Kuznetsova

Чернова

et al. 2021

Racionalʹnaâ farmakoterapiâ v kardiologii

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Molecular cardiology: from decoding the genetic nature and mechanisms of the diseases development to the introduction into the clinic

Zateyshchikov

Фаворова

Чумакова

2022

Terapevticheskii arkhiv

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In recent decades, advances in molecular biology have led to a change in understanding the inheritance mechanisms and development of cardiological diseases of predominantly genetic origin, such as hypertrophic and dilated cardiomyopathies, familial hypercholesterolemia, etc. This knowledge made it possible to develop fundamentally new drug interventions. Programs for detecting cardiac diseases of predominantly genetic origin have been created, including genetic counseling and testing. Competence in this area is becoming a necessary part of a cardiologist's job.

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Primary (Genetically Determined) Dilation Cardiomyopathy in a Patient With Novel Mutation of Lamin Gene: Clinical and Morphological Management

Cited by 2 publications

References 11 publications

Association of SCN5A gene polymorphism with dilated cardiomyopathy

Association of SCN5A gene polymorphism with dilated cardiomyopathy

Molecular cardiology: from decoding the genetic nature and mechanisms of the diseases development to the introduction into the clinic

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