Association of single nucleotide polymorphisms of gene GPC5, CASQ2, NOS1AP, GPD1L with sudden cardiac death in russian population
Author Affiliations1Novosibirsk State Medical University of Minzdrav of Russia 630091, Novosibirsk, Krasny av., 52
2Institute of Internal and Preventive Medicine of SB RAMS 630089, Novosibirsk, Boris Bogatkov str., 175/1
3Institute of Internal and Preventive Medicine of SB RAMS 630089, Novosibirsk, Boris Bogatkov str., 175/1, Institute of Cytology and Genetics of SB RAS 630090, Novosibirsk, Akademic Lavrentev av., 10
4Institute of Cytology and Genetics of SB RAS, 630090, Novosibirsk, Prospekt Akademik Lavrentyev, 10; Institute of Internal and Preventive Medicine of SB RAMS, 630089, Novosibirsk, Boris Bogatkov str., 175/1
5Novosibirsk State Medical University of Minzdrav of Russia 630091, Novosibirsk, Krasny av., 52, Novosibirsk Regional Bureau of Forensic Medicine Novosibirsk, 630087, Nemirovich-Danchenko str., 134
6Institute of Cytology and Genetics of SB RAS, 630090, Novosibirsk, Prospekt Akademik Lavrentyev, 10; Institute of Internal and Preventive Medicine of SB RAMS, 630089, Novosibirsk, Boris Bogatkov str., 175/1
Abstract
Study objective. To investigate the association of rs3864180 gene GPC5, rs3010396 gene CASQ2, rs10918859 gene NOS1AP, rs9862154 gene GPD1L region with sudden cardiac death in the Russian population. Material and methods. A group of individuals who died of sudden cardiac death (n = 352), the control group matched by age and sex (n = 195), a group of teenagers (n = 297). The statistically significant differences between the groups were not found by the frequencies of genotypes and alleles of rs10918859 gene NOS1AP, rs9862154 gene GPD1L region. The statistically significant differences between the group of men who died of sudden cardiac death and the control group (OR = 0.4, 95 % CI 0.2-0.8, р = 0.020; OR = 0.4, 95 % CI 0.2-0.7, р = 0.006, respectively) were revealed by the frequencies of genotypes of rs3864180 gene GPC5, rs3010396 gene CASQ2. rs3864180 gene GPC5 and rs3010396 gene CASQ2 are associated with sudden cardiac death in men in the Russian population.
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References1. Maksimov V.N., Kulikov I.V., Ustinov S.N. et al. Association gene polymorphism SREBF2 with sudden cardiac death // Byulleten' Sibirskogo otdeleniya Rossiyskoy akademii meditsinskikh nauk. 2011. (5). 14-18. (in Russian)
2. Smith C.L., Klco S.R., Cantor C.R. Pulsed-field gel electrophoresis and the technology of large DNA molecules // Genome Analysis: A Practical Approach. Ed. K. Davies. Oxford: Oxford Univ. Press, 1989. 41-72. (in Russian)
3. Aarnoudse A., Newton-Cheh C., de Bakker P. et al. Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study// Circulation. 2007. (116). 10-16.
4. Arking D.E., Reinier K., Post W. et al. Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest // PLoS One. 2010. 3. (5). e9879.
5. Chugh S., Reinier K., Teodorescu C. et al. Epidemiology of sudden cardiac death: clinical and research // Prog. Cardiovasc. Dis. 2008. 51. (3). 213-228.
6. De Cat B., David G. Developmental roles of the glypicans // Semin. Cell Dev. Biol. 2001. 12. 117-125.
7. European detailed mortality database (DMDB). World Health Organization. Regional office for Europe. http://data.euro.who.int/dmdb/
8. Huang Y., Lian J., Huang R.S. et al. Positive association between rs10918859 of the NOS1AP gene and coronary heart disease in male Han Chinese // Genet. Test. Mol. Biomarkers. 2013. 1. (17). 25-29.
9. Kao W., Arking D., Post W. Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations // Circulation. 2009. 119. (7). 940-951.
10. Lahat H., Pras E., Olender T. et al. Missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel // Am. J. Hum. Genet. 2001. 69. (6). 1378-1384.
11. Norstrand D.W., Valdivia C.R., Tester D.J. et al. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) mutations in sudden infant death syndrome // Circulation. 2007. 116. 2253-2259.
12. Rodr?guez-Calvo M., Brion M., Allegue C. et al. Molecular genetics of sudden cardiac death // Forensic Sci. Int. 2008. (182). 1-12.
13. Sovari A., Kocheril A., Baas A. Sudden cardiac death // Medscape J. Med. 2011. 13. 1-10.
14. Terentyev D., Kubalova Z., Valle G. et al. Modulation of SR Ca release by luminal Ca and calsequestrin in cardiac myocytes: effects of CASQ2 mutations linked to Sudden Cardiac Death // Biophys. J. 2008. 95. 2037-2048.
15. Turakhia M., Tseng Z.H. Sudden cardiac death: epidemiology, mechanisms, and therapy // Curr. Probl. Cardiol. 2007. (32). 501-546.
16. Westaway S.K., Reinier K., Huertas-Vazquez A. et al. Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease // Circ. Cardiovasc. Genet. 4. (4). 397-402.
About Authors (Correspondence):
Maksimov V.N. - doctor of medical sciences, head of laboratory for molecular genetic studies of therapeutic diseases, e-mail: medik11@mail.ru
Ivanova A.A. - attending physician, e-mail: ivanova_a_a@mail.ru
Orlov P.S. - junior researcher, e-mail: dinara2084@mail.ru
Ivanoshchuk D.Y. - junior researcher, e-mail: dinara2084@mail.ru
Savchenko S.V. - doctor of medical sciences, professor of forensic medicine
Voevoda M.I. - doctor of medical sciences, professor, corresponding member of RAMS, director, e-mail: mvoevoda@ya.ru
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