Dyslipidemia in adults and genetic polymorphism in the mevalonate kinase gene, a systematic review

Authors

DOI:

https://doi.org/10.33448/rsd-v10i8.17343

Keywords:

Dyslipidemia; Mevalonate kinase; Genetic polymorphism; Adults.

Abstract

The presence of mutations in dyslipidemia-related genes is of great importance for the outcome of procedures on patients with elevated levels of HDL cholesterol. This systematic review aims to describe the genetic variants in the mevalonate kinase genes in adults with dyslipidemia. A systematic search of the following databases was conducted: Scopus, Web of Science, Google Scholar and Bireme, using the keywords: "Mevalonate Kinase Gene", "Dyslipidemia", "Genetic Polymorphism", linked using the term "AND". The inclusion criteria consisted of articles published between 2008 and 2018, written in Portuguese or English, while the exclusion criteria were the removal of duplicated articles, books, theses and bibliographic reviews, tests not conducted on humans, tests conducted on children and other genes evaluated. The articles listed in this review demonstrate the role of the genetic polymorphism of the mevalonate-kinase gene (MVK) in an adult population. A comparison of results from different studies is often complicated because of the diverse study variables such as: tests used, population studied. The studies described in this review demonstrated that there is an association between genetic profiles and dyslipidemia. Many studies have shown that, besides the external factors and individuals’ behavioral habits, the presence of mutations in the mevalonate kinase gene is associated with dyslipidemia.

References

Browne, C., & Timson, D. J. (2015). In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency. Annals of Human Genetics, 79(6), 451–459. https://doi.org/10.1111/ahg.12126

Fogarty, M. P., Xiao, R., Prokunina-Olsson, L., Scott, L. J., & Mohlke, K. L. (2010). Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. Human Molecular Genetics, 19(10), 1921–1929. https://doi.org/10.1093/hmg/ddq067

Houten, S. M., Frenkel, J., Rijkers, G. T., Wanders, R. J. A., Kuis, W., & Waterham, H. R. (2002). Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Human Molecular Genetics, 11(25), 3115–3124. https://doi.org/10.1093/hmg/11.25.3115

Junyent, M., Parnell, L. D., Lai, C.-Q., Lee, Y.-C., Smith, C. E., Arnett, D. K., … Ordovás, J. M. (2009). Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study. The American Journal of Clinical Nutrition, 90(3), 686–694. https://doi.org/10.3945/ajcn.2009.27738

Messer, L., Alsaleh, G., Georgel, P., Carapito, R., Waterham, H. R., Dali-Youcef, N., … Sibilia, J. (2016). Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS). RMD Open, 2(1). https://doi.org/10.1136/rmdopen-2015-000196

Miao, L, Yin, R.-X., Pan, S.-L., Yang, S., Yang, D.-Z., & Lin, W.-X. (2017). Association between the MVK and MMAB polymorphisms and serum lipid levels. Oncotarget, 8(41), 70378–70393. https://doi.org/10.18632/oncotarget.19707

Miao, Liu, Yin, R.-X., Huang, F., Chen, W.-X., Cao, X.-L., & Wu, J.-Z. (2017). The effect of MVK-MMAB variants, their haplotypes and GxE interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke. Oncotarget, 8(42). https://doi.org/10.18632/oncotarget.20349

Moura, R., Tricarico, P. M., Coelho, A. V. C., & Crovella, S. (2015). GRID2 a novel gene possibly associated with mevalonate kinase deficiency. Rheumatology International, 35(4), 657–659.

Sarzynski, M. A., Jacobson, P., Rankinen, T., Carlsson, B., Sjöström, L., Carlsson, L. M. S., & Bouchard, C. (2011). Association of GWAS-based candidate genes with HDL-cholesterol levels before and after bariatric surgery in the Swedish obese subjects study. The Journal of Clinical Endocrinology & Metabolism, 96(6), E953–E957.

Sun, J., Qian, Y., Jiang, Y., Chen, J., Dai, J., Jin, G., … Shen, H. (2016). Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population. Lipids in Health and Disease, 15(1), 171. https://doi.org/10.1186/s12944-016-0348-7

Wang, D.-S., Yin, R.-X., Li, K.-G., Lu, L., Su, Y., & Yan, R.-Q. (2018). Association between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study. BioScience Trends, 12(4), 403–411. https://doi.org/10.5582/bst.2018.01146

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Published

14/07/2021

How to Cite

CICHOCKI, . M. .; POLI-FREDERICO, R. C. Dyslipidemia in adults and genetic polymorphism in the mevalonate kinase gene, a systematic review. Research, Society and Development, [S. l.], v. 10, n. 8, p. e36310817343, 2021. DOI: 10.33448/rsd-v10i8.17343. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/17343. Acesso em: 23 nov. 2024.

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Section

Health Sciences