Warianty tytułu
Zwiazek polimorfizmu Sac I [SST I] genu APO CIII z poziomem triglicerydow w surowicy
Języki publikacji
Abstrakty
Apolipoprotein CIII is a major protein component of chylomicrons and very low density lipoproteins (VLDL) and it is important in the regulation of triglyceride metabolism. Sst 1 polymorphism in the apolipoprotein CIII gene (APO CIII) has been recognized as a factor influencing levels of plasma triglycerides. We examined APO CIII Sac I (Sst I) variants and serum lipids profile in 175 subjects. DNA samples were analyzed by polymerase chain reaction (PCR) followed by Sac I (Sst I) digestion. The frequency of S2 allele was found to be three times higher among men with enhanced plasma triglyceride (TG) compared to men with normal TG levels (16,2% vs. 5,2%). Subjects with the S1S2 genotype compared to S1S1 homozygotes had higher plasma triglycerides and cholesterol levels (190 ± 155 mg/dl vs. 139 ± 90 mg/dl, p=0,035; 234 ± 60 mg/dl vs. 214 ± 37, p=0,04 respectively). These results indicate that a relationship between S2 allele of APO CIII gene and enhanced TG levels occur in studied population.
Apolipoproteina CIII to białko obecne w chylomikronach i VLDL, uczestniczące w regulacji metabolizmu lipoprotein bogatych w triglicerydy. Polimorfizm Sst I genu APO CIII jest uważany za czynnik wpływający na osoczowe stężenie triglicerydów. Celem badania była analiza polimorfizmu Sac I (Sst I) genu APO CIII oraz jego relacji z poziomem lipidów w wybranej populacji 175 osób. Polimorfizm genu APO CIII oznaczano metoda PCR (Polymerase Chain Reaction), a produkty reakcji poddawano trawieniu przez enzym restrykcyjny Sac I. Profil lipidowy oznaczano przy użyciu standardowych metod enzymatycznych. Allel S2 był prawie trzy razy częściej obserwowany w grupie mężczyzn z wysokim poziomem triglicerydów (TG) w porównaniu do mężczyzn z prawidłowym poziomem TG (16,2% vs. 5,2%). U osób z genotypem S1S2 stwierdzono istotnie wyższe stężenia TG i cholesterolu w osoczu w porównaniu do osób z genotypem S1S1 (odpowiednio: 190 ± 155 mg/dl vs. 139 ± 90 mg/dl, p=0,035; 234 ± 60 mg/dl vs. 214 ± 37 mg/dl, p=0,04). Opisane wyniki wskazują, iż obecności allela S2 genu APO CIII towarzyszy wyższe stężenie triglicerydów w osoczu.
Wydawca
Czasopismo
Rocznik
Tom
Numer
Opis fizyczny
p.1575-1583,fig.,ref.
Twórcy
autor
- National Food and Nutrition Institute, Warsaw, Poland
autor
autor
Bibliografia
- 1. Aalto-Setälä K., Fisher E. A., Chen X.: Mechanism of hypertriglyceridemia in human apolipoprotein (apo) CIII transgenic mice. Diminished very low density lipoprotein fractional catabolic rate associated with increased apo CIII and reduced apo E on the particles. J. Clin. Invest., 1992, 90, 5, 1889.
- 2. Aalto-Setälä K., Kontula K., Sane T: DNA polymorphisms of apolipoprotein A-I/C-III and insulin genes in familial hypertriglyceridemia and coronary heart disease. Atherosclerosis 1987, 66, 145.
- 3. Aalto-Setälä K., Viikari J., Akerblom H. K.: DNA polymorphisms of the apolipoprotein B and A-I/C-III genes are associated with variations of serum low density lipoprotein cholesterol level in childhood. J. Lipid Res., 1991, 32, 1477.
- 4. Austin M. A.: Plasma triglyceride and coronary heart disease Arterioscler. Thromb., 1991, 11, 1, 2.
- 5. Chhabra S., Narang R., Krishnan L.R.: Apolipoprotein C3 SstI polymorphism and triglyceride levels in Asian Indians. Bio. Med. Central. Genet., 2002, 6, 3, 9.
- 6. Chhabra S., Narang R., Lakshmy R.: Apolipoprotein C3 SstI polymorphism in the risk assessment of CAD. Mol. Cell. Biochem., 2004, 259, 59.
- 7. Corella D., Guillén M., Sáiz C.: Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a Mediterranean population: interaction with tobacco smoking and the APOE locus. J. Lipid Res., 2002, 43, 3, 416.
- 8. Dammeman M., Sandkuijl L. A., Halaas J. L.: An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3 untranslated region polymorphisms. Proc. Natl. Acad. Sci. USA 1993, 90, 4562.
- 9. Espino-Montoro A., Barrios-Artillo M., López-Chozas J. M.: Influence of polymorphism (RFLP-sstI) at the apolipoprotein C-III gene locus on the lipoprotein metabolism and insulin resistance in essential hypertensive patients. Interaction between gender and genetic polymorphism. Nutr. Metab. Cardiovasc. Dis., 2003, 13, 4, 194.
- 10. Friedewald W. T., Levy R. I., Fredrickson D. S.: Estimation of the concentration of low density lipoprotein cholesterol in plasma without use of the ultracentrifuge. Clin. Chem., 1972, 18, 499.
- 11. Ginsberg H. N., Le N. A., Goldberg I.J.: Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI. Evidence that apolipoprotein CIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo. J. Clin. Invest., 1986, 78, 5, 1287.
- 12. Hoffer M. J., Sijbrands E. J., De Man F. H.: Increased risk for endogenous hypertriglyceridaemia is associated with an apolipoprotein C3 haplo- type specified by the SstI polymorphism. Eur. J. Clin. Invest., 1998, 28, 10, 807.
- 13. Huang M. C., Wang T. N., Liu Y. L.: Effect of SstI polymorphism of the apolipoprotein CIII gene and environmental factors on risks of hypertriglyceridemia in Taiwan aborigines. Circ. J., 2006, 70, 8, 1030.
- 14. Ito Y., Azrolan N., O’Connell A.: Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice. Science 1990, 17, 249, 4970, 790.
- 15. Jong M. C., Hofker M. H., Havekes L. M.: Role of apoCs in lipoprotein metabolism. Functional differences between apoC1, apoC2, and apoC3. Arterioscler. Thromb. Vase. Biol., 1999, 19, 472.
- 16. Karathanasis S. K., Zannis V. I., Breslow J. L.: Isolation and characterization of cDNA clones corresponding to two different human apoC-III alleles. J. Lipid. Res., 1985, 26, 451.
- 17. Lorenzo F., Rubba P., Monticelli A.: Coronary heart disease, echo-Doppler evidence of peripheral arterial disease and polymorphism of apolipoprotein B gene and Apo AI/CIII cluster. Angio- logy 1993, 44, 10, 785.
- 18. Maeda N., Li H., Lee D.: Targeted disruption of the apolipoprotein C-III gene in mice results in hypotriglyceridemia and protection from postprandial hypertriglyceridemia. J. Biol. Chem., 1994, 269, 23610.
- 19. Marcil M., Boucher B., Gagne E.: Lack of association of the apolipoprotein A-I-CIII- A-IV gene XmnI and SstI polymorphisms and of the lipoprotein lipase gene mutations in familiar combined hyperlipoproteinemia in French Canadian subjects. J. Lipid Res., 1996, 37, 309.
- 20. Marshall H. W., Morrison L. C., Wu L. L.: Apolipoprotein polymorphisms fail to define risk of coronary artery disease. Results of a prospective, angiographically controlled study. Circulation 1994, 89, 2, 567.
- 21. Matthews D. R., Hosker J. P., Rudenski A. S.: Homeostasis model assessment: insulin resistance and 6-cell function from fasting plasma glucose and insulin concentrations in man. Diabetes Care 1985, 28, 412.
- 22. McConathy W. J., Gesquiere J. C., Bass H.: Inhibition of lipoprotein lipase activity by synthetic peptides of apolipoprotein C-III. J. Lipid Res., 1992, 33, 995.
- 23. Olivieri O., Bassi A., Stranieri C.: Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease. J. Lipid Res., 2003, 44, 12, 2374.
- 24. Olivieri O., Stranieri C., Bassi A.: ApoC-III gene polymorphisms and risk of coronary artery disease. J. Lipid Res., 2002, 43, 9, 1450.
- 25. Ordovas J. M., Civeira E, Genest J.: Restriction fragment length polymorphisms of the apolipoprotein A-I, C-III, A-IV gene locus. Relationships with lipids, apolipoproteins, and premature coronary artery disease. Atherosclerosis 1991, 87, 1, 75.
- 26. Ordovas J.M., Lopez-Miranda J., Mata R: Gene-diet interaction in determining plasma lipid response to dietary intervention. Atherosclerosis., 1995, 118, SI 1.
- 27. Rees A., Stocks J., Paul H.: Haplotypes identified by DNA polymorphisms at the apolipoprotein A-1 and C-III loci and hypertriglyceridaemia. A study in a Japanese population. Hum. Genet., 1986, 72, 2, 168.
- 28. Rees A., Stocks J., Sharpe C.R.: Deoxyribonucleic acid polymorphism in the apolipoprotein A-l-C-III gene cluster. Association with hypertriglyceridemia J. Clin. Invest., 1985, 76, 3, 1090.
- 29. Russo G. T., Meigs J. B., Cupples L. A.: Association of the Sst-I polymorphism at the APOC3 gene locus with variations in lipid levels, lipoprotein subclass profiles and coronary heart disease risk: the Framingham offspring study. Atherosclerosis 2001, 158, 1, 173.
- 30. Shoulders C.C., Ball M. J., Baralle F. E.: Variation in the apo AI/CIII/AIV gene complex: its association with hyperlipidemia. Atherosclerosis., 1989, 80, 2, 111.
- 31. Sidoli A., Giudici G., Soria M.: Restriction-fragment-length polymorphisms in the A-I-C-III gene complex occurring in a family with hypoalphalipoproteinemia. Atherosclerosis., 1986, 62, 1, 81.
- 32. Surguchov A. P., Page G. P., Smith L.: Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia. Arterioscler. Thromb. Vase. Biol., 1996, 16, 8, 941.
- 33. Talmud P. J., Humphries S. E.: Apolipoprotein C-III gene variation and dyslipidaemia. Curr. Opin. Lipidol., 1997, 8, 3, 154.
- 34. Taş S., Abdella N. A.: Blood pressure, coronary artery disease, and glycaemic control in type 2 diabetes mellitus: relation to apolipoprotein-CIII gene polymorphism. Lancet 1994, 14, 343, 8907, 1194.
- 35. Taş S.: Strong association of a single nucleotide substitution in the 3'-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs. Clin. Chem., 1989, 35, 2, 256.
- 36. Waterworth D. M., Ribalta J., Nicaud V: ApoCIII gene variants modulate postprandial response to both glucose and fat tolerance tests. Circulation., 1999, 13, 99, 14, 1872.
- 37. Waterworth D. M., Talmud P. J., Buja S. R.: Contribution of apolipoprotein C-III gene variants to determination of triglyceride levels and interaction with smoking in middle-aged men. Arterioscler. Thromb. Vase. Biol., 2000, 20, 12, 2663.
- 38. Zeng Q., Dammerman M., Takada Y.: An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population. Hum. Genet., 1995, 95, 371.
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.agro-article-3762eb8b-0d11-4602-83d3-d4728b366fe1