APO A-V–1131T→C polymorphism frequency and its association with morbidity in a Brazilian elderly population
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Elizabeth S. Chen
Abstract
Identification of genetic polymorphisms as risk factors for complex diseases affecting older people can be relevant for their prevention, diagnosis and management. The –1131T→C polymorphism of the apolipoprotein A-V gene (APO A-V) is tightly linked to lipid metabolism and has been associated with increased triglyceride levels and familial dyslipidemia. The aims of this study were to analyze the allele and genotype frequencies of this polymorphism in a Brazilian elderly population and to investigate any association between the polymorphism and major morbidities affecting elderly people. This polymorphism was investigated in 371 individuals, aged 66–97years, in a Brazilian Elderly Longitudinal Population Study. Major morbidities investigated were: cerebrovascular diseases (CVD); myocardial infarction (MI); type 2 diabetes; hypertension; obesity; dementia; depression; and neoplasia. DNA was isolated and amplified by PCR and its products were digested with restriction enzyme Tru1I. T and C allele frequencies were 0.842 and 0.158, respectively. Our population showed allele frequencies that were similar to European and Afro-American and different from Asiatic populations. Genotype distributions were not within Hardy-Weinberg equilibrium only for the obesity subject sample. On the other hand, a significant association between the C allele and obesity in the presence of CVD×depression interaction was observed. Logistic analysis showed no association of the polymorphism with each morbidity group. Therefore, the C allele in elderly Brazilian subjects may represent a risk factor for these morbidity interactions, which may lead to better comprehension of their pathophysiology.
References
1. Finch CE, Tanzi RE. Genetics of aging. Science 1997; 278:407–11.10.1126/science.278.5337.407Search in Google Scholar PubMed
2. Souza MF, Filho AM, Malta DC, Duarte EC, Oliveira G, Cordeiro LD. Análise dos dados de mortalidade de 2001. In: Ministério da Saúde. Saúde Brasil 2004 uma análise da situação de saúde, Brasília: Secretaria de Vigilância em Saúde, 2004;137–231.Search in Google Scholar
3. Hokanson JE, Austin MA. Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: a meta-analysis of population-based prospective studies. J Cardiovasc Risk 1996; 3:213–9.Search in Google Scholar
4. Steinberg D, Gotto AM. Preventing coronary artery disease by lowering cholesterol levels: fifty years from bench to bedside. J Am Med Assoc 1999; 282:2043–50.10.1001/jama.282.21.2043Search in Google Scholar PubMed
5. Olivier M, Wang X, Cole R, Gau B, Kim J, Rubin EM, et al. Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11. Genomics 2004; 83:912–23.10.1016/j.ygeno.2003.11.016Search in Google Scholar PubMed PubMed Central
6. Pennacchio LA, Olivier M, Hubacek JA, Cohen JC, Cox DR, Fruchart JC, et al. An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science 2001; 294:169.10.1126/science.1064852Search in Google Scholar PubMed
7. Hubacek JA, Skodova Z, Adamkova V, Lanska V, Poledne R. The influence of APOAV polymorphisms (T–1131>C and S19>W) on plasma triglyceride levels and risk of myocardial infarction. Clin Genet 2004; 65:126–30.10.1111/j.0009-9163.2004.00199.xSearch in Google Scholar PubMed
8. Szalai C, Keszei M, Duba J, Prohaszka Z, Kozma GT, Csaszar A, et al. Polymorphism in the promoter region of the apolipoprotein A5 gene is associated with an increased susceptibility for coronary artery disease. Atherosclerosis 2004; 173:109–14.10.1016/j.atherosclerosis.2003.12.003Search in Google Scholar PubMed
9. Bi N, Yan SK, Li GP, Yin ZN, Chen BS. A single nucleotide polymorphism –1131T>C in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and alters triglyceride metabolism in Chinese. Mol Genet Metab 2004; 83:280–6.10.1016/j.ymgme.2004.06.017Search in Google Scholar PubMed
10. Tang Y, Sun P, Guo D, Ferro A, Ji Y, Chen Q, et al. A genetic variant c.553G>T in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and altered triglyceride levels in a Chinese population. Atherosclerosis 2005, in press (Epub ahead of print; DOI 10.1016/j.atherosclerosis.2005.06.026).10.1016/j.atherosclerosis.2005.06.026Search in Google Scholar PubMed
11. Pennacchio LA, Rubin EM. Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice. Arterioscler Thromb Vasc Biol 2003; 23:529–34.10.1161/01.ATV.0000054194.78240.45Search in Google Scholar PubMed
12. Kao JT, Wen HC, Chien KL, Hsu HC, Lin SW. A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia. Hum Mol Genet 2003; 12:2533–9.10.1093/hmg/ddg255Search in Google Scholar PubMed
13. Talmud PJ, Martin S, Taskinen MR, Frick MH, Nieminen MS, Kesaniemi YA, et al. APOA5 gene variants, lipoprotein particle distribution, and progression of coronary heart disease: results from the LOCAT study. J Lipid Res 2004; 45:750–6.10.1194/jlr.M300458-JLR200Search in Google Scholar
14. Lee KW, Ayyobi AF, Frohlich JJ, Hill JS. APOA5 gene polymorphism modulates levels of triglyceride, HDL cholesterol and FERHDL but is not a risk factor for coronary artery disease. Atherosclerosis 2004; 176:165–72.10.1016/j.atherosclerosis.2004.04.024Search in Google Scholar
15. Chaaba R, Attia N, Hammami S, Smaoui M, Mahjoub S, Hammami M, et al. Association of SNP3 polymorphism in the apolipoprotein A-V gene with plasma triglyceride level in Tunisian type 2 diabetes. Lipids Health Dis 2005; 4:1.10.1186/1476-511X-4-1Search in Google Scholar
16. Ramos LR, Toniolo J, Cendoroglo MS, Garcia JT, Najas MS, Perracini M, et al. Two-year follow-up study of elderly residents in S. Paulo, Brazil: methodology and preliminary results. Rev Saude Publica 1998; 32:397–407.10.1590/S0034-89101998000500001Search in Google Scholar
17. Whitworth JA; World Health Organization, International Society of Hypertension Writing Group. 2003 World Health Organization (WHO)/International Society of Hypertension (ISH) statement on management of hypertension. J Hypertens 2003; 21:1983–92.10.1097/00004872-200311000-00002Search in Google Scholar
18. Chobanian AV, Bakris GL, Black HR, Cushman WC, Green LA, Izzo JL Jr, et al. Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure. Hypertension 2003; 42:1206–52.10.1161/01.HYP.0000107251.49515.c2Search in Google Scholar
19. DECODE Study Group. European Diabetes Epidemiology Group Diabetes. Epidemiology: collaborative analysis of diagnostic criteria in Europe. Is fasting glucose sufficient to define diabetes? Epidemiological data from 20 European studies. Diabetologia 1999;42:647–54.10.1007/s001250051211Search in Google Scholar
20. Kyle UG, Genton L, Hans D, Karsegard VL, Michel JP, Slosman DO, et al. Total body mass, fat mass, fat-free mass, and skeletal muscle in older people: cross-sectional differences in 60-year-old persons. J Am Geriatr Soc 2001; 49:1633–40.10.1111/j.1532-5415.2001.49272.xSearch in Google Scholar
21. Rolland-Cachera MF, Cole TJ, Sempe M, Tichet J, Rossignol C, Charraud A. Body mass index variations: centiles from birth to 87years. Eur J Clin Nutr 1991; 45:13–21.Search in Google Scholar
22. Folstein MF, Folstein SE, McHugh PR. “Mini-mental state”. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975; 12:189–98.10.1016/0022-3956(75)90026-6Search in Google Scholar
23. Bertolucci PH, Brucki SM, Campacci SR, Juliano Y. [The Mini-Mental State Examination in a general population: impact of educational status]. Arq Neuropsiquiatr 1994; 52:1–7.10.1590/S0004-282X1994000100001Search in Google Scholar
24. Bertolucci PH, Okamoto IH, Brucki SM, Siviero MO, Toniolo Neto J, Ramos LR. Applicability of the CERAD neuropsychological battery to Brazilian elderly. Arq Neuropsiquiatr 2001; 59(Suppl 3A):532–6.10.1590/S0004-282X2001000400009Search in Google Scholar
25. Blay SL, Ramos LR, Mari Jde J. Validity of a Brazilian version of the Older Americans Resources and Services (OARS) mental health screening questionnaire. J Am Geriatr Soc 1988; 36:687–92.10.1111/j.1532-5415.1988.tb07169.xSearch in Google Scholar
26. Bush TL, Miller SR, Golden AL, Hale WE. Self-report and medical record report agreement of selected medical conditions in the elderly. Am J Public Health 1989; 79:1554–6.10.2105/AJPH.79.11.1554Search in Google Scholar
27. Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991; 19:5444.10.1093/nar/19.19.5444Search in Google Scholar
28. Pennacchio LA, Olivier M, Hubacek JA, Krauss RM, Rubin EM, Cohen JC. Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. Hum Mol Genet 2002; 11:3031–8.10.1093/hmg/11.24.3031Search in Google Scholar
29. Nabika T, Nasreen S, Kobayashi S, Masuda J. The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese. Atherosclerosis 2002; 165:201–4.10.1016/S0021-9150(02)00252-6Search in Google Scholar
30. Austin MA, Talmud PJ, Farin FM, Nickerson DA, Edwards KL, Leonetti D, et al. Association of apolipoprotein A5 variants with LDL particle size and triglyceride in Japanese Americans. Biochim Biophys Acta 2004; 1688:1–9.10.1016/j.bbadis.2003.10.003Search in Google Scholar PubMed
31. Barreto SM, Passos VM, Cardoso AR, Lima-Costa MF. Quantifying the risk of coronary artery disease in a community: the Bambui project. Arq Bras Cardiol 2003; 81:556–61.10.1590/S0066-782X2003001400002Search in Google Scholar PubMed
32. Abrantes MM, Lamounier JA, Colosimo EA. [Overweight and obesity prevalence among children and adolescents from Northeast and Southeast regions of Brazil]. J Pediatr 2002; 78:335–40.10.2223/JPED.869Search in Google Scholar
33. Lai CQ, Tai ES, Tan CE, Cutter J, Chew SK, Zhu YP, et al. The APOA5 locus is a strong determinant of plasma triglyceride concentrations across ethnic groups in Singapore. J Lipid Res 2003; 44:2365–73.10.1194/jlr.M300251-JLR200Search in Google Scholar PubMed
34. Jang Y, Kim JY, Kim OY, Lee JE, Cho H, Ordovas JM, et al. The –1131T→C polymorphism in the apolipoprotein A5 gene is associated with postprandial hypertriacylglycerolemia; elevated small, dense LDL concentrations; and oxidative stress in nonobese Korean men. Am J Clin Nutr 2004; 80:832–40.10.1093/ajcn/80.4.832Search in Google Scholar PubMed
©2006 by Walter de Gruyter Berlin New York
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Articles in the same Issue
- Where does the evidence come from?
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- Plasma cell-free DNA as an indicator of severity of injury in burn patients
- Bivariate statistical approach to evaluate laboratory performance by analysis of standard curves in an External Quality Assurance program for quantitative assays based on real-time PCR with Taq-Man™ probes
- Erythrocyte membrane acetylcholinesterase activity in subjects with MTHFR 677C→T genotype
- Plasma levels of tumor M2-pyruvate kinase should not be used as a tumor marker for hematological malignancies and solid tumors
- APO A-V–1131T→C polymorphism frequency and its association with morbidity in a Brazilian elderly population
- Association study between fibronectin and coronary heart disease
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- In vitro re-mineralization of demineralized bone matrix in human serum
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