Association study of new polymorphisms with sudden cardiac death in men

Aim. To study the association of new polymorphisms with sudden cardiac death (SCD) in men.Material and methods. The SCD group (n=278) was formed using guidelines of the World Health Organization and the European Society of Cardiology. The autopsy material was taken from the men who died suddenly out...

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Main Authors: V. N. Maksimov, A. A. Ivanova, P. S. Orlov, D. E. Ivanoshhuk, S. K. Malyutina, V. P. Novosyolov, M. L. Voevoda
Format: Article
Language:Russian
Published: «FIRMA «SILICEA» LLC 2018-11-01
Series:Российский кардиологический журнал
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Online Access:https://russjcardiol.elpub.ru/jour/article/view/3083
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author V. N. Maksimov
A. A. Ivanova
P. S. Orlov
D. E. Ivanoshhuk
S. K. Malyutina
V. P. Novosyolov
M. L. Voevoda
author_facet V. N. Maksimov
A. A. Ivanova
P. S. Orlov
D. E. Ivanoshhuk
S. K. Malyutina
V. P. Novosyolov
M. L. Voevoda
author_sort V. N. Maksimov
collection DOAJ
description Aim. To study the association of new polymorphisms with sudden cardiac death (SCD) in men.Material and methods. The SCD group (n=278) was formed using guidelines of the World Health Organization and the European Society of Cardiology. The autopsy material was taken from the men who died suddenly outside the prevention and treatment facilities who underwent medicolegal examination according to a standard protocol. The average age in the SCD group was 53,2±8,7 years. The control group (n=274) was selected by sex and age from the DNA bank formed during the international studies of MONICA and HAPIEE. The mean age of men in the control group was 53.±8,3 years. Genomic DNA was separated from myocardial tissue and venous blood by the method of phenol-chloroform extraction. Rs10503929, rs7121, rs6730157, rs11720524, rs7737692, rs7521023 polymorphisms were tested using real-time PCR. The insertion- deletion polymorphisms rs.0692285 and rs39.7 were genotyped by PCR with flanking primers followed by polyacrylamide gel electrophoresis. Statistical analysis was performed using the SPSS 13.0 software package.Results. By comparison the frequencies of rs7121 genotypes in the studied groups of Novosibirsk, an increase in the proportion of CC genotype carriers in the group with SCD (OR=.6, 95% CI 1,1-2,2; p=0,025) was found. The carriage of the rs.0692285 ID genotype reduces the risk of SCD (OR=0,6, 95% CI 0,4-0,9; p=0,0M). A carriage of the rs39.7 ID genotype increases the risk of SCD (OR=.5, 95% CI 1,1-2,2; p=0,020).Conclusion. The rs7121 of the GNAS gene, the rs.0692285 of the RYR2 gene, and the rs39.7 of the COL1A2 gene are associated with SCD. Rs10503929, rs6730157, rs11720524, rs7737692, rs7521023 polymorphisms do not associate with SCD in the men of Novosibirsk.
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spelling doaj-art-85c4bf1c90f0471dbc938ce64af4e6222025-08-20T03:57:26Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202018-11-01010707510.15829/1560-4071-2018-10-70-752539Association study of new polymorphisms with sudden cardiac death in menV. N. Maksimov0A. A. Ivanova1P. S. Orlov2D. E. Ivanoshhuk3S. K. Malyutina4V. P. Novosyolov5M. L. Voevoda6SRI of Therapy and Prevention Medicine — branch of FSBSI Federal Research Center Institute of Cytology and Genetics of SD RAS; Novosibirsk State Medical UniversitySRI of Therapy and Prevention Medicine — branch of FSBSI Federal Research Center Institute of Cytology and Genetics of SD RASSRI of Therapy and Prevention Medicine — branch of FSBSI Federal Research Center Institute of Cytology and Genetics of SD RASSRI of Therapy and Prevention Medicine — branch of FSBSI Federal Research Center Institute of Cytology and Genetics of SD RASSRI of Therapy and Prevention Medicine — branch of FSBSI Federal Research Center Institute of Cytology and Genetics of SD RAS; Novosibirsk State Medical UniversityNovosibirsk State Medical University; Novosibirsk Oblast Clinical Bureau of Forensic ExpertiseSRI of Therapy and Prevention Medicine — branch of FSBSI Federal Research Center Institute of Cytology and Genetics of SD RAS; Novosibirsk State Medical UniversityAim. To study the association of new polymorphisms with sudden cardiac death (SCD) in men.Material and methods. The SCD group (n=278) was formed using guidelines of the World Health Organization and the European Society of Cardiology. The autopsy material was taken from the men who died suddenly outside the prevention and treatment facilities who underwent medicolegal examination according to a standard protocol. The average age in the SCD group was 53,2±8,7 years. The control group (n=274) was selected by sex and age from the DNA bank formed during the international studies of MONICA and HAPIEE. The mean age of men in the control group was 53.±8,3 years. Genomic DNA was separated from myocardial tissue and venous blood by the method of phenol-chloroform extraction. Rs10503929, rs7121, rs6730157, rs11720524, rs7737692, rs7521023 polymorphisms were tested using real-time PCR. The insertion- deletion polymorphisms rs.0692285 and rs39.7 were genotyped by PCR with flanking primers followed by polyacrylamide gel electrophoresis. Statistical analysis was performed using the SPSS 13.0 software package.Results. By comparison the frequencies of rs7121 genotypes in the studied groups of Novosibirsk, an increase in the proportion of CC genotype carriers in the group with SCD (OR=.6, 95% CI 1,1-2,2; p=0,025) was found. The carriage of the rs.0692285 ID genotype reduces the risk of SCD (OR=0,6, 95% CI 0,4-0,9; p=0,0M). A carriage of the rs39.7 ID genotype increases the risk of SCD (OR=.5, 95% CI 1,1-2,2; p=0,020).Conclusion. The rs7121 of the GNAS gene, the rs.0692285 of the RYR2 gene, and the rs39.7 of the COL1A2 gene are associated with SCD. Rs10503929, rs6730157, rs11720524, rs7737692, rs7521023 polymorphisms do not associate with SCD in the men of Novosibirsk.https://russjcardiol.elpub.ru/jour/article/view/3083sudden cardiac deathsingle nucleotide polymorphismrs10503929rs7121rs6730157rs11720524rs7737692rs7521023rs10692285 and rs3917
spellingShingle V. N. Maksimov
A. A. Ivanova
P. S. Orlov
D. E. Ivanoshhuk
S. K. Malyutina
V. P. Novosyolov
M. L. Voevoda
Association study of new polymorphisms with sudden cardiac death in men
Российский кардиологический журнал
sudden cardiac death
single nucleotide polymorphism
rs10503929
rs7121
rs6730157
rs11720524
rs7737692
rs7521023
rs10692285 and rs3917
title Association study of new polymorphisms with sudden cardiac death in men
title_full Association study of new polymorphisms with sudden cardiac death in men
title_fullStr Association study of new polymorphisms with sudden cardiac death in men
title_full_unstemmed Association study of new polymorphisms with sudden cardiac death in men
title_short Association study of new polymorphisms with sudden cardiac death in men
title_sort association study of new polymorphisms with sudden cardiac death in men
topic sudden cardiac death
single nucleotide polymorphism
rs10503929
rs7121
rs6730157
rs11720524
rs7737692
rs7521023
rs10692285 and rs3917
url https://russjcardiol.elpub.ru/jour/article/view/3083
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