Prevalence and genetic predictors of lipid metabolism disorders
https://doi.org/10.52485/19986173_2025_2_95
Abstract
A review of the literature on the prevalence and genetic causes of lipid metabolism disorders is presented, the results of major studies and registries devoted to the study of the epidemiological features of dyslipidemia are analyzed.
Supporting agencies: The study had no financial support
About the Authors
D. N. Zaitsev
Irkutsk State Medical University
Russian Federation
Russian Federation
Doctor of Medical Sciences, Professor, Head of the Department
Basic Department
664003; 1 Krasny Vosstaniya St.; Irkutsk
AuthorID: 324250
I. V. Slobodskaya
Chita State Medical Academy
Russian Federation
Russian Federation
Postgraduate Student, cardiologist
Department of Faculty Therapy
672000; 39a Gorky St.; Chita
AuthorID: 1177233
P. V. Vasilenko
Chita State Medical Academy
Russian Federation
Russian Federation
Сandidate of Medical Sciences, Associate Professor
Department of Faculty Therapy
672000; 39a Gorky St.; Chita
AuthorID: 1013777
References
1. Kozhokar K.G., Urvantseva I.A. Improving medical care for patients with lipid metabolism disorders (based on the work of the lipid center of the District Cardiology Dispensary "Center for Diagnostics and Cardiovascular Surgery", Surgut). Russian Journal of Cardiology. 2017. 5. 97-103.
2. Healthcare in Russia. 2023: Statistical Digest. Rosstat. Moscow. 2023. 179.
3. Kukharchuk V.V., Yezhov M.V., Sergienko I.V. et al. Clinical guidelines of the Eurasian Association of Cardiologists (EAC)/National Society for the Study of Atherosclerosis (NSSA) for the diagnosis and correction of lipid metabolism disorders for the prevention and treatment of atherosclerosis (2020). Eurasian Journal of Cardiology. 2020. 2. 6-29.
4. Sadykova D.I., Ziatdinov A.I., Senek A.I. et al. Experience in organizing medical care for children with lipid metabolism disorders using the example of the work of the Lipidology Center of the Children's Republican Clinical Hospital in the Republic of Tatarstan. Atherosclerosis and dyslipidemia. 2021. 1(42). 52–58.
5. Metelskaya V.A., Shalnova S.A., Deev A.D. et al. Analysis of the prevalence of indicators characterizing the atherogenicity of the lipoprotein spectrum in residents of the Russian Federation (according to the ESSE-RF study). Preventive Medicine. 2016. 19(1). 15-23.
6. Ezhov M.V., Kukharchuk V.V., Sergienko I.V. et al. Lipid metabolism disorders. Clinical guidelines 2023. Russian journal of cardiology. 2023. 5.
7. Chapman M.J., Ginsberg H.N., Amarenco P. et al. Triglyceride-rich lipoproteins and highdensity lipoprotein cholesterol in patients at high risk of cardiovascular disease: evidence and guidance for management. European Heart Journal. 2011. 32. 1345-1361.
8. Cardiovascular prevention 2017 : Russian national recommendations. Russian journal of cardiology. 2018. 6. 7-122. DOI: 10.15829/1560-4071-2018-6-7-122.
9. Yusuf S., Hawken S., Ounpuu S. et al. Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study. The Lancet. 2004. 364. P. 937-952. DOI: 10.1016/S0140-6736(04)17018-9.
10. Drapkina O.M., Imaeva A.E., Kutsenko V.A. et al. Dyslipidemias in the Russian Federation: population data, associations with risk factors. Cardiovascular Therapy and Prevention.2023. 22(8S):3791. DOI: 10.15829/1728-8800-2023-3791.
11. Kotseva K, Wood D., De Wood G. et al. EUROASPIRE III. Management of cardiovascular risk factors in asymptomatic high-risk patients in general practice: cross-sectional survey in 12 European countries. Eur J CardiovascPrev Rehabil. 2010. 17 (5). 530-540. DOI: 10.1097/HJR.0b013e3283383f30.
12. Ezhov M.V., Bliznyuk S.A., Alekseeva I.A. et al. Prevalence of hypercholesterolemia and statin use in outpatient practice in the Russian Federation. The ICEBERG study - early diagnosis of patients with hypercholesterolemia in outpatient practice to improve cardiovascular prognosis. Atherosclerosis and dyslipidemia. 2017. 4. 5-18.
13. Akhmedzhanov N.M., Nebieridze D.V., Safaryan A.S. et al. Analysis of the prevalence of hypercholesterolemia in outpatient practice (according to the ARGO study): part 1. Rational pharmacotherapy in cardiology. 2015. 11(3).
14. Boytsov S.A., Lukyanov M.M., Yakushin S.S. et al. Outpatient and polyclinic registry REKVAZA: data of prospective observation, risk assessment and outcomes in patients with cardiovascular diseases. Cardiovascular Therapy and Prevention. 2015. 14(1). 53-62.
15. Muntner P., Lee F., Astor B.C. Association of high-density lipoprotein cholesterol with coronary heart disease risk across categories of low-density lipoprotein cholesterol: the atherosclerosis risk in communities study. American Journal of the Medical Sciences. 2011. 341(3). 173-80. DOI: 10.1097/MAJ.0b013e3181f97e4a.
16. Aguiar C., Alegria E., Bonadonna R.C.et al. A review of the evidence on reducing macrovascular risk in patients with atherogenic dyslipidaemia: A report from an expert consensus meeting on the role of fenofibrate-statin combination therapy. Atherosclerosis Supplements. 2015. 19. 1-12. DOI: 10.1016/S1567-5688(15)30001-5.
17. Castelli W.P. Epidemiology of triglycerides: a view from Framingham. American Journal of Cardiology. 1992. 70(19). 3-9. DOI: 10.1016/0002-9149(92)91083-G.
18. Barter P., Gotto A.M., LaRosa J.C. et al. HDL Cholesterol, Very Low Levels of LDL Cholesterol, and Cardiovascular Events. New England Journal of Medicine. 2007. 357. 1301-1310. DOI: 10.1056/NEJMoa064278.
19. Carey V.J., Bishop L., Laranjo N. et al. Contribution of high plasma triglycerides and low high-density lipoprotein cholesterol to residual risk of coronary heart disease after establishment of low-density lipoprotein cholesterol control. American Journal of Cardiology. 2010. 106(6). 757-763. DOI: 10.1016/j.amjcard.2010.05.002.
20. Karpov Yu.A. Prevalence of hypertriglyceridemia: new all-Russian data. PROMETHEUS study. Cardiology. 2016. 5(7). 63-71.
21. Mustafina S.V., Nikitin Yu.P., Simonova G.I., Shcherbakova L.V. Prevalence of dyslipidemia in diabetes mellitus at the age of 45–69 years in Novosibirsk. Atherosclerosis. 2014. 10(4). 26-31.
22. Hopkins P.N., Toth P.P, Ballantyne C.M., et al. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. Journal of Clinical Lipidology. 2011. 5(3). 9-17. DOI: 10.1016/j.jacl.2011.03.45.
23. Sharifi M., Futema M., Nair D., et al. Genetic Architecture of Familial Hypercholesterolaemia. Current Cardiology Reports. 2017. 19 (5). 24.
24. Humphries S.E., Norbury G., Leigh S. et al. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Current Cardiology Reports. 2008. 19. 362-368.
25. Akioyamen L.E., Genest J., Shan S.D. et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia : a systematic review and meta-analysis. BMJ Open. 2017. 7(9). DOI: 10.1136/bmjopen-2017-016461.
26. Ezhov M.V., Bazhan S.S., Ershova A.I. et al. Clinical guidelines for familial hypercholesterolemia. Atherosclerosis. 2019. 15(1). 58-98.
27. Boytsov S.A., Drapkina O.M., Shlyakhto E.V. et al. Study ESSE-RF (Epidemiology of cardiovascular diseases and their risk factors in the regions of the Russian Federation). Ten years later. Cardiovascular therapy and prevention. 2021. 20(5). 3007.
28. Meshkov A.N., Ershova A.I., Kiseleva A.V. et al. The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the RussianFederation: The FH-ESSE-RF Study. Journal Personalized Medicine. 2021. 11(6). 464. DOI: 10.3390/jpm11060464.
29. Ezhov M.V., Bliznyuk S.A., Tmoyan N.A. et al. Registry of patients with familial hypercholesterolemia and patients with very high cardiovascular risk with insufficient effectiveness of lipid-lowering therapy (RENAISSANCE). Russian Journal of Cardiology. 2019. 5.
30. Safarova M.S., Sergienko I.V., Ezhov M.V. et al. Russian research program for timely diagnosis and treatment of patients with familial hypercholesterolemia: rationale and design of the Russian registry of familial hypercholesterolemia (RoFH). Atherosclerosis and dyslipidemia. 2014. 3.
31. Yezhov M.V., Sergienko I.V., Duplyakov D.V. et al. Results of the Russian research program for diagnosis and treatment of patients with familial hypercholesterolemia. High prevalence, low awareness, poor adherence. Atherosclerosis and dyslipidemia. 2017. 2.
32. Chubykina U.V., Ezhov M.V., Rozhkova T.A. et al. Five-year follow-up of patients with homo- and heterozygous familial hypercholesterolemia in the RENAISSANCE registry. Atherosclerosis and Dyslipidemia. 2023. 1(50). 5–18
33. Farup P.G., Rootwelt H., Hestad K. APOE — a genetic marker of comorbidity in subjects with morbid obesity. BMC Medical Genetics. 2020. 21(1). 146. DOI: 10.1186/s12881-020-01082-2
34. Zhang Z., Ou J., Cai P. et al. Association between the PON1 Q192R polymorphism and coronary heart disease in Chinese: a meta-analysis. Medicine (Baltimore). 2018. 97(26). DOI: 10.1097.
35. Norata G.D., Tsimikas S., Pirillo A., et al. Apolipoprotein C-III: From pathophysiology to pharmacology. Trends in Pharmacological Sciences. 2015. 36. 675-687. DOI: 10.1016/j.tips.2015.07.001.
36. Agirbasli M., Sumerkan M.C., Eren F., et al. The S447X variant of lipoprotein lipase gene is inversely associated with severity of coronary artery disease. Heart Vessels. 2011. 26(4). 457-63.
37. DOI: 10.1007/s00380-010-0077-1.
38. He K., Zhu Z., Chen Y. Lipoprotein Lipase Gene Polymorphisms Are Associated with Myocardial Infarction Risk: A Meta-Analysis. Genetic Testing and Molecular Biomarkers. 2021. 25(6). 434-444. DOI: 10.1089/gtmb.2021.0042.
39. Gigek Cde O., Chen E.S., Cendoroglo M.S. et al. Association of lipase lipoprotein polymorphisms with myocardial infarction and lipid levels. Clinical Chemistry and Laboratory Medicine. 2007. 45(5). 599-604. DOI: 10.1515/CCLM.2007.
40. Ahmadi Z., Senemar S., Radmanesh S.J. The association of lipoprotein lipase genes, HindIII and S447X polymorphisms with coronary artery disease in shiraz city. Cardiovascular and Thoracic Research. 2015. 7(2). 63-67
41. Ayyappa K.A., Shatwan I., Bodhini D. et al. High fat diet modifies the association of lipoprotein lipase gene polymorphism with high density lipoprotein cholesterol in an Asian Indian population. Nutrition & Metabolism. 2017.14(8).
42. Anderson J.L., King G.J., Bair T.L. Association of lipoprotein lipase gene polymorphisms with coronary artery disease. Journal of the American College of Cardiology. 1999. 15(33/4). 1013-1020.
43. Bahrami M, B. Hamzeh M., Mohammad M.J. et al. Lipoprotein lipase gene variants: Association with acute myocardial infarction and lipid profiles. Egyptian Journal of Medical Human Genetics. 2015. 6(4). 327-332
44. Duman B.S., Turkoğlu C., Akpinar B. et al. Lipoprotein lipase gene polymorphism and lipid profile in coronary artery disease. Archives of Pathology & Laboratory Medicine. 2004. 128(8). 869-874.
45. Kastelein J.J., Ordovas J.M., Wittekoek M.E. et al. Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women. Clinical Genetics. 1999. 56(4). 297-305. DOI: 10.1034/j.1399-0004.1999.560407.
46. Albert M.A., Danielson E., Rifai N., et al. PRINCE Investigators. Effect of statin therapy on C-reactive protein levels: the pravastatin inflammation/CRP evaluation (PRINCE): a randomized trial and cohort study. Journal of the American Medical Association. 2001. 286(1). 64-70. DOI: 10.1001/jama.286.1.64.
47. Krauss R.M., Mangravite L.M., Smith J.D. et al. Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment. Circulation. – 2008. 117. 1537-1544. DOI: 10.1161/CIRCULATIONAHA.107.708388.
48. Donnelly L.A., Doney A.S., Dannfald J. et al. A paucimorphic variant in the HMG-CoA reductase gene is associated with lipid-lowering response to statin treatment in diabetes: a GoDARTS study. Pharmacogenet Genomics. 2008. 18. 1021-1026. DOI: 10.1097/FPC.0b013e3283106071.
49. Polisecki E., Muallem H., Maeda N. et al. Prospective Study of Pravastatin in the Elderly at Risk (PROSPER) Investigatorset al. Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER. Atherosclerosis. 2008. 200. 109-114. DOI: 10.1016/j.atherosclerosis.2007.12.004.
50. Tsygankova D.P., Mulerova T.A., Ogarkov M.Yu. et al. Lipid metabolism indices in residents of Gornaya Shoria: ethnic characteristics and influence of living conditions. Atherosclerosis and dyslipidemia. 2017. 1.
51. Averianova I.V., Maksimov A.L. State of lipid and carbohydrate metabolism in aboriginal and Caucasian students with different periods of residence in the Magadan Region. Human ecology. 2015. 9. 44-49.
52. Ryabova T.I., Popova T.V., Sirotin B.Z. Features of the lipid spectrum of blood serum in the indigenous and immigrant population of the Amur region. Clinical laboratory diagnostics. 2012. 2. 25-27.
Review
For citations:
Zaitsev D.N., Slobodskaya I.V., Vasilenko P.V. Prevalence and genetic predictors of lipid metabolism disorders. Transbaikalian Medical Bulletin. 2025;(2):95-105. (In Russ.) https://doi.org/10.52485/19986173_2025_2_95
Views:
58
Email this article 