Polimorfismo genético de la apolipoproteína E en un grupo de escolares del centro-oriente colombiano: comparación con las concentraciones plasmáticas de lípidos y apolipoproteínas
Palabras clave:
polimorfismo genético, apolipoproteínas, colesterol, triglicéridos, niño, adolescente
Resumen
Introducción. Estudios mundiales han demostrado la contribución de los alelos de la apolipoproteína E en las variaciones de los lípidos y las apolipoproteínas.Objetivo. Determinar la frecuencia alélica y genotípica de la apolipoproteína E y su asociación con los lípidos y apolipoproteínas en escolares de la región centro-oriental de Colombia.
Materiales y métodos. El tamaño de la muestra fue de 691 escolares entre los 5 y 15 años, de los departamentos de Cundinamarca, Boyacá, Meta, Santander y Norte de Santander. Los genotipos de la apolipoproteína E se identificaron por reacción en cadena de la polimerasapolimorfismo de longitud del fragmento de restricción. Se analizaron las variables lipídicas de colesterol total, colesterol HDL, colesterol LDL, triglicéridos y colesterol VLDL, apolipoproteína A-I y apolipoproteína B-100.
Resultados. Las frecuencias de los alelos e2, e3 y e4 fueron 0,04, 0,86 y 0,08, respectivamente. El grupo E4 (E4/3-E4/4) comparado con el grupo E2 (E3/2-E2/2) presentó las concentraciones plasmáticas más altas de colesterol total, colesterol LDL y apolipoproteína B-100 (p=0,014, 0,001 y 0,000, respectivamente), lo mismo ocurre al comparar el grupo E3/3 con el E2 (p=0,015, 0,002 y 0,002, respectivamente); la influencia del polimorfismo de la apolipoproteína E fue mayor en las niñas.
Conclusiones. La asociación del alelo e4 con niveles más altos de colesterol total, colesterol LDL y apolipoproteína B-100 muestra la importancia de realizar otros estudios sobre el polimorfismo de la apolipoproteína E, su interacción con otros genes, estilos de vida y factores de riesgo y su posible contribución para el desarrollo de enfermedad cardiovascular.
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Referencias bibliográficas
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26. Fernández-Mestre MT, Yehirobi C, Montagnani S, Balbas O, Layrisse Z. Genetic variability of apolipoprotein E in different populations from Venezuela. Dis Markers. 2005;21:15-9.
27. De Franca E, Alves JG, Hutz MH. Apolipoprotein E polymorphism and its association with serum lipid levels in brazilian children. Hum Biol. 2004;76:267-75.
28. Lehtimäki T, Moilanen T, Viikari J, Akerblom HK, Ehnholm C, Rönnemaa T, et al. Apolipoprotein E phenotypes in Finnish youths: a cross-sectional and 6-year follow-up study. J Lipid Res. 1990;31:487-95.
29. Lehtimäki T, Porkka K, Viikari J, Ehnholm C, Akerblon HK, Nikkari T. Apolipoprotein E phenotypes and serum lipids in newborns and 3-year-old children: the Cardiovascular in Young Finns Study. Pediatrics. 1994;94:489-93.
30. Corella D, Guillén M, Sáiz C, Portolés O, Sabater A, Cortina S, et al. Environmental factors modulate the effect of the APOE genetic polymorphism on plasma lipid concentrations: ecogenetic studies in a Mediterranean Spanish population. Metabolism. 2001;50:936-44.
31. Steinmetz A, Thiemann E, Czekelius P, Kaffarnik H. Polymorphism of apolipoproteína E influences levels of serum apolipoproteína E and B in the human neonate. Eur J Clin Invest. 1989;19:390-4.
32. Herrmann W, Hanf S, Kaffarnik H, Motzny S, Reiisner J, Steinmetz A. The influence of apolipoprotein E polymorphism on plasma concentrations of apolipoprotein B and A-I during the first year of life. Pediatrics. 1994;93:296-302.
33. Garcés C, Benavente M, Lasunción MA, Ortega H, Nájera G, de Oya M. Gender-specific effects of apolipoprotein E genotype on plasma lipid levels in a population-based sample of 6-7-year-old children in Spain. Acta Paediatr. 2002;91:1039-43.
34. Reilly SL, Ferrell RE, Kottke BA, Sing CF. The gender-specific apolipoprotein E genotype influence on the distribution of plasma lipids and apolipoproteins in the population of Rochester, Minnesota, II: regression relationships with concomitans. Am J Hum Genet. 1992;51:1311-24.
35. Mänttäri M, Koskinen P, Ehnholm C, Huttunen JK, Manninen V. Apolipoprotein E polymorphism influences the serum cholesterol response to dietary intervention. Metabolism. 1991;40:217-21.
36. Schaefer EJ, Lamon-Fava S, Johnson S, Ordovas JM, Schaefer MM, Castelli W, et al. Effects of gender and menopausal status on the association of apolipoprotein E phenotype with plasma lipoprotein
levels. Arterioscler Thromb. 1994;14:1105-13.
37. Kamboh MI, Aston CE, Hamman RF. The relationship of ApoE polymorphism and cholesterol levels in normoglycemic and diabetic subjects in a biethnic population from the San Luis Valley, Colorado.
Atherosclerosis. 1995;112:145-59.
38. Mahley RW, Palaoglu KE, Atak Z, Dawson-Pepin J, Langlois AM, Cheung V, et al. Turkish heart study: lipids, lipoproteins, and apolipoproteins. J Lipid Res. 1995:36;839-59.
39. Fulton JE, Dai S, Grunbaum JA, Boerwinkle E, Labarthe DR. Apolipoprotein E affects serial changes in total and low-density lipoprotein cholesterol in adolescent girls: Project HeartBeat. Metabolism. 1999;48:285-90.
40. Kurvinen E, Aasvee K, Zordania R, Jauhiainen M, Sundvall J. Serum lipid and apolipoprotein profiles in newborns and six-year-old children: the Tallinn Young Family Study. Scand J Clin Lab Invest. 2005;65:541-50.
41. Boerwinkle E, Sing CF. The use of measured genotype information in the anaysis of quantitative phenotypes in man. III. Simultaneous estimation of the frecuencies and effects of the apolipoprotein E polymorphism and residual polygenic effects on cholesterol, betalipoproein and triglyceride levels. Ann Hum Genet. 1987;51:211-26.
42. Lund-Katz S, Wehrli S, Zaiou M, Newhouse Y, Weisgraber KH, Phillips MC. Effects of polymorphism on the microenvironment of the LDL receptor-binding region of human apoE. J Lipid Res. 2001;42:894-901.
43. Utermann G. Apolipoprotein E polymorphism in health and disease. Am Heart J. 1987;113:433-40.
2. Ginsberg HN. Lipoprotein physiology. Endocrinol Metab Clin North Am. 1998;27:503-19.
3. Mahley RW, Huang Y, Rall SC Jr. Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). Questions, quandaries, and paradoxes. J Lipid Res. 1999;40:1933-49.
4. Das HK, McPherson J, Bruns GA, Karathanasis SK, Breslow JL. Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene. J Biol Chem. 1985;260:6240-7.
5. Mahley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science. 1988;240:622-30.
6. Rall SC Jr, Weisgraber KH, Mahley RW. Human apolipoprotein E. The complete amino acid sequence. J Biol Chem. 1982;257:4171-8.
7. Davignon J, Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis. 1988;8:1-21.
8. Hixon JE. Apolipoprotein E polymorphisms affect atherosclerosis in young males. Pathobiological Determinants of Atherosclerosis in Youth (PDAY) Research Group. Arterioscler Thromb. 1991;11:1237-
44.
9. Xu CF, Talmud PJ, Angelico F, Del Ben M, Savill J, Humphries SE. Apolipoprotein E polymorphism and plasma lipid, lipoprotein, and apolipoprotein levels in Italian children. Genet Epidemiol. 1991;8:389-98.
10. Srinivasan S, Ehnholm C, Wattigney W, Berenson GS. Apolipoprotein E polymorphism and its association with serum lipoprotein concentrations in black versus white children: The Bogalusa Heart Study. Metabolism. 1993;42:381-6.
11. Porkka KV, Taimela S, Kontula K, Lehtimäki T, Aalto-Setälä K, Akerblom H et al. Variability gene effects of DNA polymorphisms at the apo B, apo AI/CIII and Apo E loci on serum lipids: the Cardiovascular Risk in Young Finns Study. Clin Genet. 1994;45:113-21.
12. Sanghera DK, Ferrell RE, Aston CE, McAllister AE, Kamboh MI, Kimm SY. Quantitative effects of the apolipoprotein E polymorphism in a biracial sample of 9-10-year old girls. Atherosclerosis. 1996;126:35-42.
13. Okada T, Sato Y, Iwata F, Hara M, Kim H, Harada K. Relationship of apolipoprotein E phenotypes to serum lipid and lipoprotein levels in Japanese schoolchildren. Acta Paediatr. 1998;87:460-1.
14. Ministerio de Salud, Instituto Nacional de Salud, Organización Panamericana de Salud. Situación de salud en Colombia. Indicadores básicos. Bogotá D.C.: Ministerio de Salud, Instituto Nacional de Salud, Organización Panamericana de Salud; 2002.
15. González M, De la Hoz F. Mortalidad por enfermedades crónicas no transmisibles en Colombia, 1990-1999. Inf Quinc Epidemiol Nac. 2002;14:209-36.
16. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem. 1972;18:499-502.
17. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
18. Hixon JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res. 1990;31:545-8.
19. SPSS Inc. SPSS-X users guide. 3d ed. Chicago: SPSS Inc.; 1988.
20. Sing CF, Davignon J. Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am J Hum Genet. 1985;37:268-85.
21. Bercedo Sanz A, González-Lamuño D, Muñoz P, Albajar M, Rodriguez JC, Braga S, et al. Asociación entre el perfil lipídico y genotipo de la apoproteína E en niños españoles (8-15 años). An Esp Pediatr. 1998;49:120-4.
22. Bercedo-Sanz A, González-Lamuño D, Málaga S, García-Fuentes M. Impact of apoE4 allele on total cholesterol levels of children in northern Spain. Clin Genet. 1999;55:69-70.
23. Garcés C, Cantos M, Benavente M, Granizo JJ, Cano B, Viturro E, et al. Variations in APOE genotypedistribution in children from areas with different adult cardiovascular disease mortality in Spain. Hum Biol. 2004;76:615-21.
24. Medina-Urrutia AX, Cardoso-Saldana GC, Zamora-González J, Liria YK, Posadas-Romero C. Apolipoprotein E polymorphism is related to plasma lipids and apolipoprotein in Mexican adolescents. Hum
Biol. 2004;76:605-14.
25. Sorroche P, Gutt LS, Brandi P, Oyhamburu JM, da Graca L. Fenotipos de apolipoproteína E: frecuencia y relación con los lípidos en dadores de sangre. Bioquím Pat Clin. 1997;61:277.
26. Fernández-Mestre MT, Yehirobi C, Montagnani S, Balbas O, Layrisse Z. Genetic variability of apolipoprotein E in different populations from Venezuela. Dis Markers. 2005;21:15-9.
27. De Franca E, Alves JG, Hutz MH. Apolipoprotein E polymorphism and its association with serum lipid levels in brazilian children. Hum Biol. 2004;76:267-75.
28. Lehtimäki T, Moilanen T, Viikari J, Akerblom HK, Ehnholm C, Rönnemaa T, et al. Apolipoprotein E phenotypes in Finnish youths: a cross-sectional and 6-year follow-up study. J Lipid Res. 1990;31:487-95.
29. Lehtimäki T, Porkka K, Viikari J, Ehnholm C, Akerblon HK, Nikkari T. Apolipoprotein E phenotypes and serum lipids in newborns and 3-year-old children: the Cardiovascular in Young Finns Study. Pediatrics. 1994;94:489-93.
30. Corella D, Guillén M, Sáiz C, Portolés O, Sabater A, Cortina S, et al. Environmental factors modulate the effect of the APOE genetic polymorphism on plasma lipid concentrations: ecogenetic studies in a Mediterranean Spanish population. Metabolism. 2001;50:936-44.
31. Steinmetz A, Thiemann E, Czekelius P, Kaffarnik H. Polymorphism of apolipoproteína E influences levels of serum apolipoproteína E and B in the human neonate. Eur J Clin Invest. 1989;19:390-4.
32. Herrmann W, Hanf S, Kaffarnik H, Motzny S, Reiisner J, Steinmetz A. The influence of apolipoprotein E polymorphism on plasma concentrations of apolipoprotein B and A-I during the first year of life. Pediatrics. 1994;93:296-302.
33. Garcés C, Benavente M, Lasunción MA, Ortega H, Nájera G, de Oya M. Gender-specific effects of apolipoprotein E genotype on plasma lipid levels in a population-based sample of 6-7-year-old children in Spain. Acta Paediatr. 2002;91:1039-43.
34. Reilly SL, Ferrell RE, Kottke BA, Sing CF. The gender-specific apolipoprotein E genotype influence on the distribution of plasma lipids and apolipoproteins in the population of Rochester, Minnesota, II: regression relationships with concomitans. Am J Hum Genet. 1992;51:1311-24.
35. Mänttäri M, Koskinen P, Ehnholm C, Huttunen JK, Manninen V. Apolipoprotein E polymorphism influences the serum cholesterol response to dietary intervention. Metabolism. 1991;40:217-21.
36. Schaefer EJ, Lamon-Fava S, Johnson S, Ordovas JM, Schaefer MM, Castelli W, et al. Effects of gender and menopausal status on the association of apolipoprotein E phenotype with plasma lipoprotein
levels. Arterioscler Thromb. 1994;14:1105-13.
37. Kamboh MI, Aston CE, Hamman RF. The relationship of ApoE polymorphism and cholesterol levels in normoglycemic and diabetic subjects in a biethnic population from the San Luis Valley, Colorado.
Atherosclerosis. 1995;112:145-59.
38. Mahley RW, Palaoglu KE, Atak Z, Dawson-Pepin J, Langlois AM, Cheung V, et al. Turkish heart study: lipids, lipoproteins, and apolipoproteins. J Lipid Res. 1995:36;839-59.
39. Fulton JE, Dai S, Grunbaum JA, Boerwinkle E, Labarthe DR. Apolipoprotein E affects serial changes in total and low-density lipoprotein cholesterol in adolescent girls: Project HeartBeat. Metabolism. 1999;48:285-90.
40. Kurvinen E, Aasvee K, Zordania R, Jauhiainen M, Sundvall J. Serum lipid and apolipoprotein profiles in newborns and six-year-old children: the Tallinn Young Family Study. Scand J Clin Lab Invest. 2005;65:541-50.
41. Boerwinkle E, Sing CF. The use of measured genotype information in the anaysis of quantitative phenotypes in man. III. Simultaneous estimation of the frecuencies and effects of the apolipoprotein E polymorphism and residual polygenic effects on cholesterol, betalipoproein and triglyceride levels. Ann Hum Genet. 1987;51:211-26.
42. Lund-Katz S, Wehrli S, Zaiou M, Newhouse Y, Weisgraber KH, Phillips MC. Effects of polymorphism on the microenvironment of the LDL receptor-binding region of human apoE. J Lipid Res. 2001;42:894-901.
43. Utermann G. Apolipoprotein E polymorphism in health and disease. Am Heart J. 1987;113:433-40.
Cómo citar
1.
Callas N, Poveda E, Baracaldo C, Hernández P, Castillo C, Guerra M. Polimorfismo genético de la apolipoproteína E en un grupo de escolares del centro-oriente colombiano: comparación con las concentraciones plasmáticas de lípidos y apolipoproteínas. Biomed. [Internet]. 1 de diciembre de 2007 [citado 16 de agosto de 2024];27(4):526-36. Disponible en: https://revistabiomedica.org/index.php/biomedica/article/view/171
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2007-12-01
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