The association of RS34643859 gene KCNS1, RS12804550 gene SCN4B, RS4514993 gene SCN11A with the sudden cardiac death
- 作者: Ivanova A.A.1, Melnikova E.S.1, Gurazheva A.A.1, Malutina S.K.1,2, Rodina I.A.3, Khamovich O.V.3, Novoselov V.P.2,3, Maksimov V.N.1,2
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隶属关系:
- Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences
- Novosibirsk State Medical University
- Novosibirsk Regional Office of Forensic Medical Examination
- 期: 卷 19, 编号 5 (2021)
- 页面: 33-39
- 栏目: Articles
- URL: https://journals.eco-vector.com/1728-2918/article/view/113478
- DOI: https://doi.org/10.29296/24999490-2021-05-05
- ID: 113478
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作者简介
Anastasia Ivanova
Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences
Email: ivanova_a_a@mail.ru
Senior Researcher, Laboratory of Molecular Genetic Research of Therapeutic Diseases
Elizaveta Melnikova
Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences
Email: jarinaleksi@mail.ru
postgraduate student
Anna Gurazheva
Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences
Email: annapalna1@mail.ru
Junior Researcher, Laboratory of Molecular Genetic Research of Therapeutic Diseases
Sofya Malutina
Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences; Novosibirsk State Medical University
Email: smalyutina@hotmail.com
Professor of the Department of Therapy, Hematology and Transfusiology, Faculty of Advanced Training and Professional Retraining of Physicians
Irina Rodina
Novosibirsk Regional Office of Forensic Medical Examination
Email: nokbsme@nso.ru
medical forensic expert
Olesya Khamovich
Novosibirsk Regional Office of Forensic Medical Examination
Email: nokbsme@nso.ru
medical forensic expert
Vladimir Novoselov
Novosibirsk State Medical University; Novosibirsk Regional Office of Forensic Medical Examination
Email: nokbsme@nso.ru
Head
Vladimir Maksimov
Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences; Novosibirsk State Medical University
Email: medik11@mail.ru
Head of the Laboratory of Molecular Genetic Research of Therapeutic Diseases; Professor of the Department of Medical Genetics and Biology of the Faculty of Medicine and Prevention
参考
- Шляхто Е.В., Арутюнов Г.П., Беленков Ю.Н. Национальные Рекомендации по определению риска и профилактике внезапной сердечной смерти. Aрхив внутренней медицины. 2013; 4: 5-15.
- Priori S.G., Blomstrem-Lundqvist C., Mazzanti A., Blom N., Borggrefe M., Camm J., Elliott P.M., Fitzsimons D., Hatala R., Hindricks G., Kirchhof P., Kjeldsen K., Kuck K.H., Hernandez-Madrid A., Nikolaou N., Norekval T.M., Spaulding C., Van Veldhuisen D.J. The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). G. Ital Cardiol. 2016; 17 (2):108-70.
- dbSNP [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information. rs34643859; [released 2020 Apr 21; cited 2020 Oct 18]; Available from: https://www.ncbi.nlm.nih.gov/snp/rs34643859
- Hendry L., Lombard Z., Wadley A., Kamer-man P. KCNS1, but not GCH1, is associated with pain intensity in a black southern African population with HIV-associated sensory neuropathy: a genetic association study. J. Acquir Immune Defic Syndr. 2013; 63 (1): 27-30. DOI: 10.1097/ QAI.0b013e318285cf36.
- dbSNP [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information. rs12804550; [released 2020 Apr 21; cited 2020 Oct 18]; Available from: https://www.ncbi.nlm.nih.gov/snp/rs12804550
- Yang Q., Xiong H., Xu C., Huang Y., Tu X., Wu G., Fu F., Wang Z., Wang L., Zhao Y., Li S., Huang Y., Wang C., Wang D., Yao Y., Wang F., Wang Y., Xue Y., Wang P., Chen Q., Pu J., Wang Q.K. Identification of rare variants in cardiac sodium channel p4-subunit gene SCN4B associated with ventricular tachycardia. Mol Genet Genomics. 2019; 294 (4): 1059-71. doi: 10.1007/s00438-019- 01567-7.
- Li R.G., Wang Q., Xu Y.J., Zhang M., Qu X.K., Liu X., Fang W.Y., Yang Y.Q. Mutations of the SCN4B-encoded sodium channel p4 subunit in familial atrial fibrillation. Int J. Mol. Med. 2013; 32 (1): 144-50. DOI: 10.3892/ ijmm.2013.1355.
- dbSNP [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information. rs4514993; [released 2020 Apr 21; cited 2020 Oct 18]; Available from: https://www.ncbi.nlm.nih.gov/snp/rs4514993
- Ginanneschi F., Rubegni A., Moro F., Volpi N., Santorelli F.M., Rossi A. SCN11A variant as possible pain generator in sensory axonal neuropathy. Neurol Sci. 2019; 40 (6): 1295-7. doi: 10.1007/s10072-019-3703-4.
- Coll M., Allegue C., Partemi S., Mates J., Del Olmo B., Campuzano O., Pascali V., Iglesias A., Striano P., Oliva A., Brugada R. Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing. Int J. Legal Med. 2016; 130 (2): 331-9. doi: 10.1007/s00414-015-1269-0.