CLINICAL UTILIZATION OF LIPID PROFILES AND GENETICS OF LIPID METABOLISM

Authors

DOI:

https://doi.org/10.22159/ijls.2024v12.50215

Keywords:

Lipid profile, Genetics, Hyperlipidemias, Familial hyperlipidemias, Apolipoprotein E gene, Proprotein convertase subtilisin/kexin type 9,, Apolipoprotein B

Abstract

Lipid testing provides vital information for cardiovascular risk stratification and prevention decision-making. This article overviews evidence-based approaches to screening, risk evaluation, diagnosis of familial hyperlipidemias, and employing emerging pharmacogenetic therapies for managing lipid profile abnormalities.

References

Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ ADA/AGS/APhA/ASPC/NLA/PCNA guideline on the management of blood cholesterol: A report of the American college of cardiology/ American Heart association task force on clinical practice guidelines. Circulation 2019;139:e1082-43.

Jacobson TA, Maki KC, Orringer CE, Jones PH, Kris-Etherton P, Sikand G, et al. National lipid association recommendations for patient-centered management of dyslipidemia: Part 2. J Clin Lipidol 2015;9:S1-122.e1.

Arnett DK, Blumenthal RS, Albert MA, Buroker AB, Goldberger ZD, Hahn EJ, et al. 2019 ACC/AHA guideline on the primary prevention of cardiovascular disease: A report of the American college of cardiology/ American heart association task force on clinical practice guidelines. Circulation 2019;140:e596-646.

Emerging Risk Factors Collaboration, Angelantonio ED, Gao P, Pennells L, Kaptoge S, Caslake M, et al. Lipid-related markers and cardiovascular disease prediction. JAMA 2012;307:2499-506.

Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science 2016;354:aaf7000.

Knowles JW, Rader DJ, Khoury MJ. Cascade screening for familial hypercholesterolemia and the use of genetic testing. JAMA 2017;318:381-2. 7. Dron JS, Wang J, McIntyre AD, Cao H, Hegele RA. The polygenic nature of mild-to-moderate hypertriglyceridemia. J Clin Lipidol 2020;14:28-34.e2.

Qi L, Liu S, Rifai N, Hunter D, Hu FB. Associations of the apolipoprotein A1/C3/A4/A5 gene cluster with triglyceride and HDL cholesterol levels in women with type 2 diabetes. Atherosclerosis 2007;192:204-10.

El-Lebedy D, Raslan HM, Mohammed AM. Apolipoprotein E gene polymorphism and risk of type 2 diabetes and cardiovascular disease. Cardiovasc Diabetol 2016;15:12. Erratum in: Cardiovasc Diabetol 2016;15:35.

Doi T, Hori M, Harada-Shiba M, Kataoka Y, Onozuka D, Nishimura K, et al. Patients with LDLR and PCSK9 gene variants experienced higher incidence of cardiovascular outcomes in heterozygous familial hypercholesterolemia. J Am Heart Assoc 2021;10:e018263.

Dron JS, Hegele RA. Genetics of hypertriglyceridemia. Front Endocrinol (Lausanne) 2020;11:455.

Gudnason V, Kakko S, Nicaud V, Savolainen MJ, Kesäniemi YA, Tahvanainen E, et al. Cholesteryl ester transfer protein gene effect on CETP activity and plasma high-density lipoprotein in European populations. The EARS Group. Eur J Clin Invest 1999;29:116-28.

Das KC, Hossain MU, Moniruzzaman M, Salimullah M, Akhteruzzaman S. High-risk polymorphisms associated with the molecular function of human HMGCR gene infer the inhibition of cholesterol biosynthesis. Biomed Res Int 2022;2022:4558867.

Gustafsen C, Kjolby M, Nyegaard M, Mattheisen M, Lundhede J, Buttenschøn H, et al. The hypercholesterolemia-risk gene SORT1 facilitates PCSK9 secretion. Cell Metab 2014;19:310-8.

Quiroz-Figueroa K, Vitali C, Conlon DM, Millar JS, Tobias JW, Bauer RC, et al. TRIB1 regulates LDL metabolism through CEBPα- mediated effects on the LDL receptor in hepatocytes. J Clin Invest 2021;131:10.1172/JCI146775.

Chen L, Zhao ZW, Zeng PH, Zhou YJ, Yin WJ. Molecular mechanisms for ABCA1-mediated cholesterol efflux. Cell Cycle 2022;21:1121-39.

Vrablik M, Tichý L, Freiberger T, Blaha V, Satny M, Hubacek JA. Genetics of familial hypercholesterolemia: New insights. Front Genet 2020;11:574474.

Rikhi R, Shapiro MD. Proprotein convertase subtilisin/kexin Type 9 inhibition: The big step forward in lipid control. Eur Cardiol 2023;18:e45.

Nishikido T. Clinical potential of inclisiran for patients with a high risk of atherosclerotic cardiovascular disease. Cardiovasc Diabetol 2023;22:20.

Published

01-07-2024

How to Cite

Kumar, P. (2024). CLINICAL UTILIZATION OF LIPID PROFILES AND GENETICS OF LIPID METABOLISM. Innovare Journal of Life Sciences, 12, 9–11. https://doi.org/10.22159/ijls.2024v12.50215

Issue

Section

Review Article(s)