Association single nucleotide polymorphisms of gene lipid metabolism APOE, HL, SREBP2, USF1 with sudden cardiac death by russian population
Abstract
Study objective. Investigate the association of polymorphisms E2/E3/E4 gene APOE, rs1800588 gene HL, rs2228314 gene SREBP2, rs2516839 gene USF1 with sudden cardiac death in the Russian population.
Materials and methods. A group of sudden cardiac death (n = 379), the control group, matched by sex and age (n = 352).
Results and discussion. The frequencies of genotypes E2/E3/E4 gene APOE, rs1800588 gene HL, rs2516839 gene USF1 was not found statistically significant differences between the groups. The frequencies of genotypes rs2228314 gene SREBP2 found statistically significant differences between the group of sudden cardiac death and the control group. GC genotype is conditionally protective against the development of sudden cardiac death (OR = 0.4, 95 % CI 0.3–0.6, p = 0.0). CC genotype is associated with an increased risk of sudden cardiac death in men (OR = 4.1, 95 %CI 1.8–9.0, p = 0.0).
Conclusion. rs2228314 gene SREBP2 is associated with sudden cardiac death in the Russian population.
About the Authors
V. N. Maksimov
RAMS; Novosibirsk State Medical University
Russian Federation
Russian Federation
SB RAMS
Institute of internal and preventive medicine
630089
Boris Bogatkov str., 175/1
630091
Krasny av., 52
Novosibirsk
A. A. Ivanova
RAMS
Russian Federation
Russian Federation
SB RAMS
Institute of internal and preventive medicine
630089
Boris Bogatkov str., 175/1
Novosibirsk
P. S. Orlov
RAMS; RAS
Russian Federation
Russian Federation
SB RAMS
Institute of internal and preventive medicine
630089
Boris Bogatkov str., 175/1
SB RAS
Institute of Cytology and Genetics
630090
Academic Lavrent`ev av., 10
Novosibirsk
E. V. Shakhtchneyder
RAMS
Russian Federation
Russian Federation
SB RAMS
Institute of internal and preventive medicine
630089
Boris Bogatkov str., 175/1
Novosibirsk
D. E. Ivanoshchuk
RAMS; RAS
Russian Federation
Russian Federation
SB RAMS
Institute of internal and preventive medicine
630089
Boris Bogatkov str., 175/1
SB RAS
Institute of Cytology and Genetics
630090
Academic Lavrent`ev av., 10
Novosibirsk
S. V. Savchenko
Novosibirsk State Medical University; Novosibirsk Regional Bureau of Forensic Medicine
Russian Federation
Russian Federation
630091
Krasny av., 52
630087
Nemirovich-Danchenko str., 134
Novosibirsk
M. I. Voevoda
RAMS; RAS
Russian Federation
Russian Federation
SB RAMS
Institute of internal and preventive medicine
630089
Boris Bogatkov str., 175/1
SB RAS
Institute of Cytology and Genetics
630090
Academic Lavrent`ev av., 10
Novosibirsk
References
1. European detailed mortality database (DMDB) // World health organization. Regional office for Europe. –https://gateway.euro.who.int/ru/datasets/european-mortality-database/
2. Chugh S., Reinier K., Teodorescu C. et al. Epidemiology of sudden cardiac death: clinical and research // Prog. Cardiovasc. Dis. 2008. Vol. 51, N 3. P. 213–228.
3. Sovari A., Kocheril A., Baas A. Sudden Cardiac Death // Med. J. Medicine. 2011. N 13. P. 1–10.
4. Fan Y., Lehtimaki T., Rontu R. et al. Age-dependent association between hepatic lipase gene C-480T polymorphism and the risk of pre-hospital sudden cardiac death: The Helsinki Sudden Death Study // Atherosclerosis. 2007. N 192. P. 421–427.
5. Isaacs A., Sayed-Tabatabaei F. A., Njajou O. T. et al. The -514 C-T hepatic lipase promoter region polymorphism and plasma lipids: a meta-analysis // J. Clin. Endocr. Metab. 2004. N 89. P. 3858–3863.
6. Ayyappa K. A., Ghosh S., Mohan V. et al. Association of hepatic lipase gene polymorphisms with hypertriglyceridemia and low high-density lipoprotein-cholesterol levels among South Indian subjects without diabetes // Diabetes Technol. Ther. 2013. Vol. 15, N 6. P. 503–512.
7. Todur S. P., Ashavaid T. F. Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Subfraction Levels in a Group of Indian Subjects: A Cross-Sectional Study // Indian. J. Clin. Biochem. 2013. Vol. 28, N 2. P. 116–123.
8. Verdier C., Ruidavets J. B. et al. Association of hepatic lipase -514T allele with coronary artery disease and ankle-brachial index, dependence on the lipoprotein phenotype: the GENES study // PLoS One. 2013. Vol. 8, N 7. e67805.
9. Larson I. A., Ordovas J. M., De Luca C., Barnard J. R., Feussner G., Schaefer E.J. Association of apolipoprotein E genotype with plasma apoE levels // Atherosclerosis. 2000. Vol. 148, N 2. P. 327–335.
10. Utermann G., Hess M., Steinmetz A. Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinemia in man // Nature. 1977. Vol. 269. P. 604–607.
11. Tiret L., de Knijff P., Menzel H. J., Ehnholm C., Nicaud V., Havekes L. M. ApoE polymorphism and predisposition to coronary heart disease in youths of different European populations. The EARS Study // Arterioscler. Thromb. 1994. Vol. 14, N 10. P. 1617–1624.
12. Xhignesse M., Lussier-Cacan S., Sing C. F., Kessling A. M., Davignon J. Influences of common variants of apolipoprotein E on measures of lipid metabolism in a sample selected for health // Arterioscler. Thromb. 1991. Vol. 11. P. 1100–1110.
13. Takeuchi F., Isono M. et al. Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals // PLoS One. 2012. Vol. 7, N 9. e46385.
14. Franceschini N., Carty C. et al. Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study// Circ. Cardiovasc. Genet. 2011. Vol. 4, N 6. P. 661–672.
15. Deursen D., Leeuwen M., Vaulont S. et al. Upstream Stimulatory Factors 1 and 2 activate the human hepatic lipase promoter via E-box dependent and independent mechanisms // Biochim. Biophys. Acta. 2009. N 1791. P. 229–237.
16. Brown M., Goldstein J. The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor // Cell. 1997. Vol. 89. P. 331–340.
17. Fan Y. M., Karhunen P., Levula M. et al. Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death // Thrombosis J. 2008. Vol. 6, N 17. P. 1–8.
18. Chen Z., Ding Z., Ma G. et al. Sterol regulatory element-binding transcription factor (SREBF)-2, SREBF cleavage-activating protein (SCAP), and premature coronary artery disease in a Chinese population // Mol. Biol. Rep. 2011. N 38. P. 1–8.
19. Kristiansson K., Ilveskoski E., Lehtimäki T. et al. Association analysis of allelic variants of USF1 in coronary atherosclerosis // Arterioscler. Thromb. Vasc. Biol. 2008. N 28. P. 983–989.
20. Laurila P., Naukkarinen J., Kristiansson K. et al. Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis// Arterioscler. Thromb. Vasc. Biol. 2010. N 30. P. 346–352.
21. Смит К. Пульс-электрофорез и методы работы с большими молекулами ДНК / К. Смит, С. Калко, Ч. Кантор; под ред. К. Дейвиса; пер. с англ. // Анализ генома. – М.: Мир, 1990. – С. 58–94.
22. Максимов В. Н. Ассоциация полиморфизма гена SREBF 2 с внезапной сердечной смертью / В. Н. Максимов [и др.] // Бюл. СО РАМН. – 2011. – № 5. – C. 14–18.
Review
For citations:
Maksimov V.N., Ivanova A.A., Orlov P.S., Shakhtchneyder E.V., Ivanoshchuk D.E., Savchenko S.V., Voevoda M.I. Association single nucleotide polymorphisms of gene lipid metabolism APOE, HL, SREBP2, USF1 with sudden cardiac death by russian population. Ateroscleroz. 2014;10(1):16-21. (In Russ.)
Views:
197
Email this article 