Association of some polymorphisms with QT interval duration in men


DOI: https://dx.doi.org/10.18565/therapy.2021.9.38-44

Nesterets A.M., Kuznetsov A.A., Ivanova A.A., Gurazheva A.A., Maliutina S.K., Denisova D.V., Maksimov V.N.

Research Institute of Therapy and Preventive Medicine – a branch of Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences, Novosibirsk
Abstract. The study of predictors of life-threatening cardiac arrhythmias and sudden cardiac death development is still of considerable interest.
The aim of the research was to study the association of some molecular genetic markers with QT interval duration in male patients.
Material and methods. The study included 25–69 years old male patients (samples formed from 2003 to 2017 within the framework of the international HAPIEE project and screening of young people 25–44 years old). They were divided into groups with the shortest, average and longest QT interval. The following single nucleotide polymorphisms (SNPs) were selected for genotyping: rs1805124, rs11720524, rs11756438, rs12576239.
Results. There were revealed no statistically significant differences between the groups in the frequencies of the SNP genotypes rs1805124, rs12576239. In carriers of the CC and GG genotypes rs11720524 in the model CG vs. CC+GG, higher QT values were recorded comparatively to carriers of the CG genotype (p=0,025). The AA genotype SNP rs11756438 of the CEP85L gene in the group of men with an average QT interval was found in 31,6% of men and in 21,5% of patients with a short QT interval (OR=0,59; 95% CI: 0,366–0,956; p=0,031).
Conclusion. Rs11720524 of the SCN5A gene and rs11756438 of the CEP85L gene are associated with QT interval duration. The association of SNP rs1805124 of the SCN5A gene, rs12576239 of the KCNQ1 gene has not been confirmed.
Keywords: KCNQ1, CEP85L, polymerase chain reaction, SCN5A, long QT syndrome, QT interval, single nucleotide polymorphism
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About the Autors

Alina M. Nesterets, postgraduate student of Research Institute of Therapy and Preventive Medicine – a Branch of Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences. Address: 630089, Novosibirsk, 175/1 Borisa Bogatkova Str. Tel.: +7 (953) 869-34-34. E-mail: alinvaleeva1994@gmail.com. ORCID: 0000-0002-1432-0473
Alexander A. Kuznetsov, MD, leading researcher of the Laboratory for molecular genetic research of therapeutic diseases, Research Institute of Therapy and Preventive Medicine – a Branch of Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences. Address: 630089, Novosibirsk, 175/1 Borisa Bogatkova Str. Tel.: +7 (383) 373-10-78. E-mail: kuznetsoviimed@gmail.com. ORCID: 0000-0003-3502-7599
Anastasia A. Ivanova, PhD, senior researcher of the Laboratory for molecular genetic research of therapeutic diseases, Research Institute of Therapy and Preventive Medicine – a Branch of Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences. Address: 630089, Novosibirsk, 175/1 Borisa Bogatkova Str. Tel.: +7 (383) 373-10-64. E-mail: ivanova_a_a@mail.ru. ORCID: 0000-0002-9460-6294
Anna A. Gurazheva, junior researcher of the Laboratory for molecular genetic research of therapeutic diseases, Research Institute of Therapy and Preventive Medicine – a Branch of Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences. Address: 630089, Novosibirsk, 175/1 Borisa Bogatkova Str. Tel.: +7 (383) 373-10-64. E-mail: AnnaPalna1@mail.ru. ORCID: 0000-0003-1547-624X
Sofia K. Malyutina, MD, professor, head of the Laboratory of etiopathogenesis and clinic of internal diseases, Research Institute of Therapy and Preventive Medicine – a Branch of Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences. Address: 630089, Novosibirsk, 175/1 Borisa Bogatkova Str. Tel.: +7 (383) 363-49-63. E-mail: smalyutina@hotmail.com. ORCID: 0000-0001-6539-0466
Diana V. Denisova, MD, chief researcher of the Laboratory of preventive medicine, Research Institute of Therapy and Preventive Medicine – a Branch of Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences. Address: 630089, Novosibirsk, 175/1 Borisa Bogatkova Str. Tel.: +7 (383) 373-10-74. E-mail: denisovadiana@gmail.com. ORCID: 0000-0002-2470-2133
Vladimir N. Maksimov, MD, professor, head of the laboratory of molecular genetic studies of therapeutic diseases, Research Institute of Therapy and Preventive Medicine – a Branch of Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences. Address: 630089, Novosibirsk, 175/1 Borisa Bogatkova Str. Tel.: +7 (383) 373-10-74. E-mail: Medik11@mail.ru. ORCID: 0000-0002-7165-4496


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