Jornal Vascular Brasileiro
https://jvascbras.org/article/doi/10.1590/1677-5449.007917
Jornal Vascular Brasileiro
Review Article

Associação de variantes polimórficas com síndrome metabólica: uma revisão integrativa

An integrative review of associations between polymorphic variants and the metabolic syndrome

Jamille Silva Oliveira, Rita Narriman Silva de Oliveira Boery

Downloads: 0
Views: 1098

Resumo

A patogênese da síndrome metabólica, ou seja, de cada um de seus componentes, é complexa e não totalmente elucidada. Por isso, há grande dificuldade em se estabelecer uma definição de quais fatores clínicos e biológicos seriam os principais determinantes no seu desenvolvimento. Esta revisão tem como objetivo caracterizar a produção científica brasileira que aborda o estudo da síndrome metabólica associada aos fatores genéticos. Foram incluídos 15 estudos, levando em consideração os critérios de inclusão e exclusão. Nossa análise revela uma razoável quantidade de trabalhos brasileiros que investigam a relação de genes e suas variantes polimórficas com a síndrome metabólica e seus fatores de risco. Dessa forma, ressalta-se a necessidade de mais trabalhos que examinem melhor o papel biológico ou a relação dos polimorfismos genéticos em pacientes com síndrome metabólica ou com seus fatores de risco.

Palavras-chave

polimorfismo genético; síndrome metabólica; hipertensão; obesidade; resistência à insulina; dislipidemia

Abstract

The pathogenesis of metabolic syndrome, i.e. of each of its components, is complex and has not been entirely elucidated. As a result, it is very difficult to establish a definition of which clinical factors are the most important determinants of its development. The objective of this review is to describe Brazilian scientific research investigating associations between the metabolic syndrome and genetic factors. We selected fifteen studies that met the inclusion and exclusion criteria. Our analysis revealed that there is a modest volume of Brazilian studies investigating relationships between genes, their polymorphic variants and the metabolic syndrome and its risk factors. Therefore, more studies are needed to better understand the biological roles played by genetic polymorphisms and their relationships with metabolic syndrome or its risk factors.

Keywords

genetic polymorphism; metabolic syndrome; hypertension; obesity; insulin resistance; dyslipidemias

References

1. Simmons RK, Alberti KG, Gale EA, et al. The metabolic syndrome: useful concept or clinical tool? Report of a WHO Expert Consultation. Diabetologia. 2010;53(4):600-5. http://dx.doi.org/10.1007/s00125-009-1620-4. PMid:20012011.

2. Alberti KG, Zimmet P, Shaw J. Metabolic syndrome--a new worldwide definition. A Consensus Statement from the International Diabetes Federation. Diabet Med. 2006;23(5):469-80. http://dx.doi.org/10.1111/j.1464-5491.2006.01858.x. PMid:16681555.

3. Alberti KG, Zimmet PZ. Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus. Provisional report of a WHO Consultation. Diabet Med. 1998;15(7):539-53. http://dx.doi.org/10.1002/(SICI)1096-9136(199807)15:7<539::AIDDIA668>3.0.CO;2-S. PMid:9686693.

4. Zimmet P, Alberti KGMM, Serrano Ríos M. A new international diabetes federation worldwide definition of the metabolic syndrome: the rationale and the results. Rev Esp Cardiol. 2005;58(12):1371-6. http://dx.doi.org/10.1016/S0300-8932(05)74065-3. PMid:16371194.

5. Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA. 2001;285(19):2486-97. http://dx.doi.org/10.1001/jama.285.19.2486. PMid:11368702.

6. Ford ES, Giles WH, Dietz WH. Prevalence of the metabolic syndrome among us adults: Findings from the third national health and nutrition examination survey. JAMA. 2002;287(3):356-9. http://dx.doi.org/10.1001/jama.287.3.356. PMid:11790215.

7. Sociedade Brasileira de Cardiologia. I Diretriz Brasileira de Diagnóstico e Tratamento da Síndrome Metabólica. Arq Bras Cardiol. 2005:3-28.

8. Tureck LV. Síndrome metabólica: investigação da associação entre seus fatores de risco isolados e polimorfismos genéticos [tese]. Curitiba: Universidade Federal do Paraná; 2015.

9. Collins FS, Brooks LD, Chakravarti A. A DNA polymorphism discovery resource for research on human genetic variation. Genome. 1998;8(12):1229-31. http://dx.doi.org/10.1101/gr.8.12.1229. PMid:9872978.

10. Micklos DA, Freyer GA, Crotty DA. A ciência do DNA. 2ª ed. Porto Alegre: Artmed; 2005.

11. Palmer IM, Schutte AE, Huisman HW. Ethnic and gender differences regarding the insulin-blood pressure relationship. Diabetes Res Clin Pract. 2009;85(1):102-10. http://dx.doi.org/10.1016/j.diabres.2009.04.014. PMid:19443068.

12. Abu-Amero KK, González AM, Osman EA, Larruga JM, Cabrera VM, Al-Obeidan SA. Susceptibility to primary angle closure glaucoma in Saudi Arabia: the possible role of mitochondrial DNA ancestry informative haplogroups. Mol Vis. 2011;17:2171-6. PMid:21850192.

13. Pereira MW, Arruda AL, Lima MS, et al. Indicadores antropométricos associados a fatores de risco cardiovasculares em idosos. Rev Eletron Gestão & Saúde. 2014:3115-31.

14. Rywik TM, Szperl M, Ploski R, et al. Is evaluation of complex polymorphism helpful in the assessment of prognosis after percutaneous coronary intervention. A prospective study. Kardiol Pol. 2011;69(9):881-8. PMid:21928191.

15. Scherrer DZ, Zago VH, Vieira IC, et al. p.Q192R SNP of PON1 seems not to be Associated with Carotid Atherosclerosis Risk Factors in an Asymptomatic and Normolipidemic Brazilian Population Sample. Arq Bras Cardiol. 2015;105(1):45-52. PMid:26039660.

16. Rios DL, D’Onofrio LO, Cerqueira CC, et al. Paraoxonase 1 gene polymorphisms in angiographically assessed coronary artery disease: evidence for gender interaction among Brazilians. Clin Chem Lab Med. 2007;45(7):874-8. http://dx.doi.org/10.1515/CCLM.2007.136. PMid:17617030.

17. Mendonça I, Reis RP, Pereira A, et al. Associação independente da variante rs1333049, no locus 9p21, com a doença coronária, numa população portuguesa. Rev Port Cardiol. 2011;30(6):575-91. PMid:21874923.

18. Yang D, Huang X, Cui C, et al. Genetic Variants in the Transcriptional Regulatory Region of the ALOX5AP gene and Susceptibility to Ischemic Stroke in Chinese Populations. Sci Rep. 2016;6(1):29513. http://dx.doi.org/10.1038/srep29513. PMid:27416969.

19. Joseph JJ, Echouffo-Tcheugui JB, Carnethon MR, et al. The association of ideal cardiovascular health with incident type 2 diabetes mellitus: the Multi-Ethnic Study of Atherosclerosis. Diabetologia. 2016;59(9):1893-903. http://dx.doi.org/10.1007/s00125-016-4003-7. PMid:27272340.

20. Bahrami H, Kronmal R, Bluemke DA, et al. Differences in the incidence of congestive heart failure by ethnicity: The multi-ethnic study of atherosclerosis. Arch Intern Med. 2008;168(19):2138-45. http://dx.doi.org/10.1001/archinte.168.19.2138. PMid:18955644.

21. Saad MF, Lillioja S, Nyomba BL, et al. Racial Differences in the Relation between Blood Pressure and Insulin Resistance. N Engl J Med. 1991;324(11):733-9. http://dx.doi.org/10.1056/NEJM199103143241105. PMid:1997839.

22. Walker SE, Gurka MJ, Oliver MN, Johns DW, DeBoer MD. Racial/ethnic discrepancies in the metabolic syndrome begin in childhood and persist after adjustment for environmental factors. Nutr Metab Cardiovasc Dis. 2012;22(2):141-8. http://dx.doi.org/10.1016/j.numecd.2010.05.006. PMid:20708390.

23. Vargas VR, Bonatto SL, Macagnan FE, et al. Influence of the 48867A>C (Asp358Ala) IL6R polymorphism on response to a lifestyle modification intervention in individuals with metabolic syndrome. Genet Mol Res. 2013;12(3):3983-91. http://dx.doi.org/10.4238/2013.February.28.8. PMid:23479153.

24. Belo VA, Luizon MR, Carneiro PC, et al. Effect of metabolic syndrome risk factors and MMP-2 genetic variations on circulating MMP-2 levels in childhood obesity. Mol Biol Rep. 2013;40(3):2697-704. http://dx.doi.org/10.1007/s11033-012-2356-7. PMid:23242659.

25. Brondani LA, Duarte GC, Canani LH, Crispim D. The presence of at least three alleles of the ADRB3 Trp64Arg (C/T) and UCP1 -3826A/G polymorphisms is associated with protection to overweight/obesity and with higher high-density lipoprotein cholesterol levels in Caucasian-Brazilian patients with type 2 diabetes. Metab Syndr Relat Disord. 2014;12(1):16-24. http://dx.doi.org/10.1089/met.2013.0077. PMid:24138564.

26. Teixeira AA, Quinto BM, Dalboni MA, Rodrigues CJ, Batista MC. Association of IL-6 polymorphism -174G/C and metabolic syndrome in hypertensive patients. BioMed Res Int. 2015;2015:927589. http://dx.doi.org/10.1155/2015/927589. PMid:25815341.

27. Almeida SS, Corgosinho FC, Amorim CE, et al. Different metabolic responses induced by long-term interdisciplinary therapy in obese adolescents related to ACE I/D polymorphism. J Renin Angiotensin Aldosterone Syst. 2017;18(2):1470320317703451. http://dx.doi.org/10.1177/1470320317703451. PMid:28504003.

28. Martins CS, Elias D, Colli LM, et al. HPA axis dysregulation, NR3C1 polymorphisms and glucocorticoid receptor isoforms imbalance in metabolic syndrome. Diabetes Metab Res Rev. 2017;33(3):e2842. http://dx.doi.org/10.1002/dmrr.2842. PMid:27507764.

29. Schuch NJ, Garcia VC, Vivolo SR, Martini LA. Relationship between Vitamin D Receptor gene polymorphisms and the components of metabolic syndrome. Nutr J. 2013;12(1):96. http://dx.doi.org/10.1186/1475-2891-12-96. PMid:23855914.

30. Gelaleti RB, Damasceno DC, Salvadori DM, et al. IRS-1 gene polymorphism and DNA damage in pregnant women with diabetes or mild gestational hyperglycemia. Diabetol Metab Syndr. 2015;7(30):15-26.

31. Franca E, Silva DS, Silva TF, Dornelles CL, Alves JG, Alho CS. APOA5 polymorphisms associated with lipid metabolism in Brazilian children and adolescents. Genet Mol Res. 2016;15(1). http://dx.doi.org/10.4238/gmr.15017809. PMid:27051036.

32. Maintinguer Norde M, Oki E, Ferreira Carioca AA, et al. Influence of IL1B, IL6 and IL10 gene variants and plasma fatty acid interaction on metabolic syndrome risk in a cross-sectional population-based study. Clin Nutr. 2018;37(2):659-66. PMid:28268030.

33. Teixeira AA, Marrocos MS, Quinto BM, et al. Diversity of apolipoprotein E genetic polymorphism significance on cardiovascular risk is determined by the presence of metabolic syndrome among hypertensive patients. Lipids Health Dis. 2014;13(1):174. http://dx.doi.org/10.1186/1476-511X-13-174. PMid:25413697.

34. Faria AP, Ritter AM, Sabbatini AR, Modolo R, Moreno H. Effects of leptin and leptin receptor SNPs on clinical- and metabolic-related traits in apparent treatment-resistant hypertension. Blood Press. 2017;26(2):74-80. http://dx.doi.org/10.1080/08037051.2016.1192 945. PMid:27310420.

35. Miranda JA, Belo VA, Souza-Costa DC, Lanna CM, Tanus-Santos JE. eNOS polymorphism associated with metabolic syndrome in children and adolescents. Mol Cell Biochem. 2013;372(1-2):155-60. http://dx.doi.org/10.1007/s11010-012-1456-y. PMid:22983816.

36. Rodrigues DM, Reis RS, Dalle Molle R, et al. Decreased comfort food intake and allostatic load in adolescents carrying the A3669G variant of the glucocorticoid receptor gene. Appetite. 2017;116:21-8. http://dx.doi.org/10.1016/j.appet.2017.04.004. PMid:28400302.

37. Rocha RM, Barra GB, Rosa EC, Garcia ÉC, Amato AA, Azevedo MF. Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome. Arch Endocrinol Metab. 2015;59(4):297-302. http://dx.doi.org/10.1590/2359-3997000000086. PMid:26331316.

Sociedade Brasileira de Angiologia e Cirurgia Vascular (SBACV)"> Sociedade Brasileira de Angiologia e Cirurgia Vascular (SBACV)">
5cd1d7c00e88251c64632f8e jvb Articles

J Vasc Bras

Share this page
Page Sections