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Role of Single Nucleotide Polymorphism of СУР17А Gene in the Development of Stroke

https://doi.org/10.20996/1819-6446-2018-14-4-488-493

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Abstract

Background. The search for genetic predictors of stroke development is actively studied in all developed countries due to the need to address the primary prevention of socially significant diseases. Gene CYP17A1 is one of the many genes that can participate in the formation of predisposition to the development of stroke.

Aim. To examine association of the single nucleotide polymorphisms rs1004467 CYP17A1 gene with the development of stroke.

Material and methods. The study included 184 patients with stroke (active group; 113 men and 71 women; mean age 55.06±9.40 years), 131 of them with ischemic stroke and 41 with hemorrhagic stroke. The comparison group included 251 people with hypertension without stroke (160 men and 91 women; mean age 59.21±6.62 years) and control group – 157 persons without cardiovascular diseases (106 men and 51 women; mean age 54.94±6.64 years). Study participants underwent clinical (collection of complaints, anamnesis, physical examination), laboratory (blood chemistry, lipid profile) and instrumental (computer tomography of the brain, ultrasound duplex scanning of extraand intracranial blood vessels, electrocardiography, echocardioscopy) examination to verify the diagnosis, molecular genetic study of gene polymorphism СУР17А.

Results. The study established the association of homozygous genotype AA rs1004467 CYP17A1 gene with the risk of stroke, which is confirmed bya statistically significant increase in the number of carriers of homozygous genotype AA in the common allele rs1004467 CYP17A1 gene in patients of the main group (73.4±3.3%) compared to the control group (61.8±3.9%; p=0.03). Statistically significant increase in the number of carriers of genotype AA rs1004467 of CYP17A1 gene in patients with hemorrhagic stroke (70.7±7.1%) compared with the control (61.8±3.9%; p=0.01) was revealed. There are no statistically significant associations between the rs1004467 genotypes of CYP17A1 gene and the risk factors of stroke (hypercholesterinemia, burdened hereditary, hypertension, increased intima-media thickness of brachiocephalic arteries).

Conclusions. The ability to consider the genetic determinants of brain stroke allows to identify proactively the risk factors of this complex cascade process. Studies of gene polymorphism as a factor of genetic predisposition to various human diseases allow to determine the individual possibilities of optimal therapy for each patient, considering the identified risk factors.

About the Authors

S. Yu. Nikulina
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky
Russian Federation

Svetlana Yu. Nikulina – MD, PhD, Professor, Vice-Rector for Academic Affairs, Head of Chair of Internal Medicine N1

Partizana Zheleznyaka ul. 1, Krasnoyarsk, 660022



V. A. Shulman
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky
Russian Federation

Vladimir A. Shulman – MD, PhD, Professor, Chair of Internal Medicine N1

Partizana Zheleznyaka ul. 1, Krasnoyarsk, 660022



A. A. Chernova
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky; Krasnoyarsk Interdistrict Clinical Hospital №20 named after I. S. Berzon
Russian Federation
Anna A. Chernova – MD, PhD, Associate Professor, Chair of Outpatient Therapy, Family Medicine and Healthy Lifestyle with a Course of Postgraduate Education, Head of Russian-Italian Laboratory of Medical Genetics, Research Institute of Molecular Medicine and Pathobiochemistry


D. A. Nikulin
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky
Russian Federation

Dmitriy A. Nikulin – MD, PhD, Assistant, Chair of Neurology with Course of Rehabilitation of Postgraduate Education

Partizana Zheleznyaka ul. 1, Krasnoyarsk, 660022



A. A. Semenchukov
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky
Russian Federation

Aleksey A. Semenchukov  – Researcher, Russian-Italian Laboratory of Medical Genetics, Research Institute of Molecular Medicine and Pathobiochemistry; Senior Teacher, Chair of Biological Chemistry with Course of Medical, Pharmaceutical and Toxicological Chemistry

Partizana Zheleznyaka ul. 1, Krasnoyarsk, 660022

 



O. V. Marilovceva
Krasnoyarsk Interdistrict Clinical Hospital №20 named after I. S. Berzon
Russian Federation

Olga V. Marilovceva – MD, PhD, Cardiologist

Instrumentalnaya ul. 12, Krasnoyarsk, 660123



S. S. Tret'jakova
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky
Russian Federation

Svetlana S. Tret'jakova – MD, PhD Candidat, Chair of Internal Medicine N1

Partizana Zheleznyaka ul. 1, Krasnoyarsk, 660022




I. I. Lebedeva
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky
Russian Federation

Ilona I. Lebedeva – MD, Post-Graduate Student, Chair of Internal Medicine N1 

Partizana Zheleznyaka ul. 1, Krasnoyarsk, 660022




V. N. Maksimov
Research Institute of Therapy and Preventive Medicine
Russian Federation

Vladimir N. Maksimov – MD, PhD, Professor, Head of the Laboratory of Molecular Genetic Studies of Therapeutic Diseases

B. Bogatkova ul. 175/1, Novosibirsk, 630089



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For citation:


Nikulina S.Y., Shulman V.A., Chernova A.A., Nikulin D.A., Semenchukov A.A., Marilovceva O.V., Tret'jakova S.S., Lebedeva I.I., Maksimov V.N. Role of Single Nucleotide Polymorphism of СУР17А Gene in the Development of Stroke. Rational Pharmacotherapy in Cardiology. 2018;14(4):488-493. (In Russ.) https://doi.org/10.20996/1819-6446-2018-14-4-488-493

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ISSN 1819-6446 (Print)
ISSN 2225-3653 (Online)