А.А. Ivanova(1), E.S. Melnikova(1), A.A. Gurazheva(1), S.K. Malutina(1, 2), I.A. Rodina(1), O.V. Khamovich(3), V.P. Novoselov(2, 3), V.N. Maksimov(1, 2) 1-Research Institutе of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, B. Bogatkova, 175/1, Novosibirsk, 630089, Russian Federation; 2-Novosibirsk state medical university, Krasnyj prospekt, 52, Novosibirsk, 630091, Russian Federation; 3-Novosibirsk Regional Office of Forensic Medical Examination, Nemirovicha-Danchenko, 134, Novosibirsk, 630087, Russian Federation Е-mail: [email protected]

Introduction. The single-nucleotide polymorphisms rs75555045 and rs12904699 were found in the own genome-wide allelotyping as possible new molecular genetic markers of sudden cardiac death (SCD). The results obtained in such studies require verification in the case-control studies using routine molecular genetic methods for eliminating false positive results. The aim of the study. Confirm the association of single nucleotide polymorphisms rs75555045 and rs12904699 with SCD. Methods. The SCD group (n=437, average age – 53,1±9,0 years, men – 73,5%, women – 26,5%) were formed from suddenly died individuals with pathological diagnoses «acute coronary insufficiency» and «acute circulatory failure». The control group formed of the MONICA and HAPIEE project participants alive at the time of the project (n=407, average age 53,3±9,0 years, men – 72,2%, women – 27,8%). DNA was isolated by phenol-chloroform extraction from myocardial tissue in the SCD group and venous blood in the control group. Genotyping was done by PCR-RFLP method. Results. No statistical significance was found in allele and genotype frequencies of rs75555045 between groups (p>0,05). In the SCD group the proportion of the AA genotype of rs12904699 is statistically significantly less (8,5%) than in the control group (13,8%) (OR=0,57, 95% CI: 0,36–0,89, p=0,014). In the subgroup of women died of SCD, the frequency of the GG genotype of rs12904699 was statistically significantly higher (61,1%) compared with the control group (46,8%) (OR=1,78, 95% CI 1,04–3,05, p=0,04). Conclusion. The association of rs75555045 with SCD has not been confirmed. rs12904699 associated with SCD: AA genotype is associated with a protective effect on SCD, GG genotype is associated with an increased risk of SCD in women.
sudden cardiac death, single nucleotide polymorphism, rs75555045, rs12904699, genome-wide allelotyping

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