Prevalence of seven cardiovascular-related genetic polymorphisms in a Chilean mestizo healthy population

References

• WHO (2012). Cardiovascular Diseases. In: Organization WH, ed. http://www.whaint/mediacentre/factsheets/fs317/es/index.html (accessed on June 26, 2015)
   Google Scholar
• DEIS, 2013, available in: http://deis.minsal.c1/vitales/Mortalidad_causa/tree.aspx (accessed on June 26, 2015)
   Google Scholar
• MINSAL 2012. National Health Strategy To meet the health goals of the decade 2011–2012. Ministerio de Salud de Chile, Gobi-erno de Chile. Available at www.senadis.gob. cl/descarga/i/224/documento (accessed on June 30, 2015).
   Google Scholar
• Simonson MA, Wills AG, Keller MC, McQueen MB. Recent methods for polygenic analysis of genome-wide data implicated on important effect of common variants on cardiovascular disease risk. BMC Med Genet 2011; 12: 146–54.
   Google Scholar
• Navarro-Lopez F. Genes and coronary heart disease. Rev Esp Cardiol 2002; 55:413–31 [article in Spanish].
   Google Scholar
• Bennet AM, Di Angelantonio E, Ye Z, Wensley F, Dahlin A, Ahlbon A, Keauney B, Collins R, Wiman B, De Faire U, Danesh J. Association of apolipoprotein E genotypes with lipid levels and coronary risk. JAMA 2007; 298:1300–11.
   Google Scholar
• Asselbergs FW, Moore JH, van den Berg MP, Rimm EB, de Boer RA, Dullaart RP, Navis G, van Gilst WH. A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation: a nested case control study. BMC Med Genet 2006; 7: 39.
   Google Scholar
• Pan SL, Wang F, Lu ZP, Liu CW, Hu CY, Luo H, Peng JH, Luo XQ Pang GF, Lu SH, Wu HY, Huang LJ, Yin RX. Cholesteryl ester transferase protein TaqIB polymorphisms and its association with serum lipid levels and longevity in Chinese Bama Zuang population. Lipids Health Dis 2012, 11: 26–34.
   Google Scholar
• Trabetti E. Homocysteine, MTHFR gene polymorphisms, and cardio-cerebrovascular risk. J Appl Genet 2008; 49: 267–82.
   Google Scholar
• Arsene D, Gaina G, Balescu C, Adeleaunu C. X677T and Al 938C methylenetetrahydropho-late reductase (MTHFR) polymorphisms as factor involved in ischemic stroke. Rom J Morphol Embryol 2011; 52: 1203–7.
   Google Scholar
• Cambien F, Poirier O, Lecerf L, Evans A, Cambou JP, Arveiler D, Ricard S, Tiret L, Amouyel P. Alhenc-Gelas F, Soubrier F. Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 1992; 359:641–4.
   Google Scholar
• Di Pasquale P, Cannizaro 5, Scalzo S. Maringhini G, Pipitone F, Fasullo 5, Giubilato A, Ganci F, Viatle G, Sarullo FM, Paterna S. Cardiovascular effects of I/D angiotensina-converting enzyme gene polymorphism in healthy subjects. Finding after follow-up of six years. Acta Cardiol 2005; 60: 427–35.
   Google Scholar
• lacoviello L, Burzotta F, Di Castelnuovo A, Zito F, Marchioli R, Donati MB.The 4G/5G polymorphism of PAI-1 promoter gene and the risk of myocardial infarction: a meta-analysis. Thromb Haemost 1998; 80: 1029–30.
   Google Scholar
• Li YY. Plasminogen activator inhibitor-1 4G/5G gene polymporphisms and coronary artery disease in the Chinese Ham population: a meta-analysis. PloS One 2012; 7: e33511.
   Google Scholar
• Berlina RM. Factor V Leiden and other coagulation factor mutations affecting thrombotic risk. Clin Chem 1997; 43: 1678–83.
   Google Scholar
• Zavanolli D, Presbitero P. Lodigiani C, Mango R, Coghati T, Quaglia J, Corrada E, Mendolicchio GL, Gasparini GL, Rossi ML, Ferrazzi P. Belli G, Pagnotta P. Rota LL. Prevalence of inherited thrombophilia in patients with documented stent thrombosis. Circ J2012; 76:1874–9.
   Google Scholar
• Palomo I, Pereira J, Alarcon M, Pinochet C, Velez MT, Hidalgo P. Skagerberg K, Poblete F. Factor V Leiden and prothrombin G20210A among Chilean patients with venous and arterial thrombosis. Rev Med Chil 2005; 133:1425–33 [article in Spanish].
   Google Scholar
• Guzman N, Salazar LA. Frequency of prothrombotic risk factors in patients with deep venous thrombosis and controls: their implications for thrombophilia screening in Chilean subjects. Genet Test Mol Biomarkers 2010; 14: 599–602.
   Google Scholar
• Baez 5, Tsuchiya Y, Calvo A, Pruyas M, Nakamura K, Kiyohara C, Oyama M, Yamamoto M. Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women. World J Gastroenterol 2010; 16: 372–8.
   Google Scholar
• Nitsche F, Alliende M.A, Santos J, Perez F, Santa Maria L, Hertrampf E, Cortés F. Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls. Rev Méd Chile 2003; 131:1399–404.
   Google Scholar
• Espino A, Villagran A, Vollrath V, Hanckes P. Salas R, Farah A, Solis N, Pizarro M, Escalona A, Boza C, Perez G, Carrasco G, Padilla O, Miguel JF, Nervi F, Chavez-Tapia NC, Arab JP, Alvarez-Lobos M, Arrese M, Riquelme A. Plasminogen activator inhibitor type 1 serum levels and 4G/5G gene polymorphism in morbidly obese Hispanic patients with non-alcoholic fatty liver disease. Ann Hepatol 2011; 10:493–501.
   Google Scholar
• Lavados M, Farias G, Rothhammer F, Guillon M, Mujica MC, Maccioni C. ApoE alleles and tau markers in patients with different levels of cognitive impairment. Arch Med Res 2005, 36:474–9.
   Google Scholar
• World Medical Association (2008). Declaration of Helsinki - Ethical Principles for Medical Research Involving Human Subjects. Helsinki, Finland, June 1964, ammended by the WMA General Assembly, Seoul, October 2008. www.wma.net/en/30publications/10policies/b3/17c.pdf
   Google Scholar
• Hassanzadeh T, Firoozrai M, Zonouz AE, Zavarehee A, Paoli M.Taq1B polymorphism of cholesteryl ester transfer protein (CETP) gene in primary combined hyperlipidaemia. Indian J Med Res 2009; 129: 293–8.
   Google Scholar
• Valenzuela CY. On sociogenetic lines. EtholSociobiol 1988; 9: 259–68.
   Google Scholar
• CASEN, 2006 available in: http://www.ministeriodesarrollosocial.gob.cl/casen/publicaciones/2006/Pobreza.pdf (accessed on June 26, 2015).
   Google Scholar
• Xiao Z, Wang J, Chen W, Wang P. Zeng H, Chen W. Association studies of several cholesterol-related genes (ABCA1, CETP and LIPC) with serum lipids and risk of Alzheimer’s disease. Lipids Health Dis 2012; 11: 163–76.
   Google Scholar
• Kashani Farid M, Azizi F, Hedayati M, Daneshpour M, Reza Shamshiri A, Siassi F. Association between CETPTaq1B and LIPC -514C/T polymorphisms with the serum lipid levels in a group of Tehran’s population: a cross sectional study. Lipids Health Dis 2010; 9:96–102.
   Google Scholar
• Pereira NL, Weinshilboum RM. Cardiovascular pharmacogenomics and individualized drug therapy. Nat Rev Cardiol 2009; 6:632–8.
   Google Scholar
• Johnson JA. Ethnic differences in cardiovascular drug response: potential contribution of pharmacogenetics. Circulation 2008; 118: 1383–93.
   Google Scholar
• Reich D, Patterson N, Campbell D, Tandon A, Mazieres 5, Ray N, Parra MV, Rojas W, Duque C, Mesa N, Garcia LF, Triana O, Blair 5, Maestre A, DibJC, Bravi CM, Bailliet G, Corach D, HOnemeier T, Bortolini MC, Salzano FM, Petzl-Erler ML, Acuria-Alonzo V, Aguilar-Salinas C, Canizales-Quinteros 5, Tusié-Luna T, Riba L, Rodriguez-Cruz M, Lopez-Alarcón M, Coral-Vazquez R, Canto-Cetina T, Silva-Zolezzi I, Fernandez-Lopez JC, Contreras AV, Jimenez-Sanchez G, Garnez-V6zquez MJ, Molina J, Carracedo A, Salas A, Gallo C, Poletti G, Witonsky DB, Alkorta-Aranburu G, Sukernik RI, Osipova L, Fedorova SA, Vasquez R, Villena M, Moreau C, Barrantes R, Pauls D, Excoffier L, Bedoya G, Rothhammer F, Dugoujon JM, Larrouy G, Klitz W, Labuda D, Kidd J, Kidd K, Di Rienzo A, Freimer NB, Price AL, Ruiz-Linares A. Reconstructing Native American population history. Nature 2012; 488: 370–4.
   Google Scholar
• Bafiares V, Wyszynski D, Schreier L, Tavella M. Polymorphism -219 G/T in the APOE gene regarding cholesterol levels and atherosclerotic disease in Argentina. Invest Clin 2010; 51: 17–26.
   Google Scholar
• Cerda A, Genvigir FD, Willrich MA, Arazi SS, Bernik MM, Dorea EL, Bertolami MC, Faludi AA, Hirata MH, Hirata RD. Apolipoprotein E mRNA expression in mononuclear cells from normolipidemic and hypercholesterolemic individuals treated with atorvastatin. Lipids Health Dis 2011; 10: 206–16.
   Google Scholar
• Callas N, Poveda E, Baracaldo C, Hernandez P. Castillo C, Guerra M. Genetic polymorphism of the E apolipoprotein in school age children: comparison with levels of plasma lipids and apolipoproteins. Biomedica 2007; 27: 526–36 [article in Spanish].
   Google Scholar
• Celaya J, Rodriguez A, Michelle P. Arends A. Study of gene polymorphism (Apo E) of the apolipoprotein E (Apo E) and its relationship to elevated serum levels of total cholesterol, triglycerides and serum lipoproteins schoolchildren. Rev Soc Med Quir Hosp Emerg Perez de Leon 2007; 38 suppl 1: 19–26 [article in Spanish]. (www.imbiomed.com.mx/1/1/articulos. php?method = showDetail&id_ articulo = 47130&id_seccion = 2734&id_ ejemplar =4773&id_revista =164)
   Google Scholar
• Gamboa R, Vargas-Alarcon G, Medina-Urrutia A, Cardoso-Saldana G, Hernandez-Pacheco G, Zamora-Gonzalez J, Posadas-Romero C. Influence of the apolipoprotein E polymorphism on plasma lipoproteins in a Mexican population. Hum Biol 2001; 73: 835–43.
   Google Scholar
• Valveny N, Esteban E, Kandil M, Moral P. APO E polymorphism in Spanish and Moroccan populations. Clin Genet 1997; 51:354–6.
   Google Scholar
• Mustafa M, Ikemoto 5, Yoshiike N, Date C, Yokoyama T, Tanaka T. Association of apolipoprotein genetic polymorphism with plasma cholesterol in a Japanese rural population.The Shibata Study. ArteriosderThrombVascBiol 1997; 17: 3495–504.
   Google Scholar
• Vedova D, Gonzalez I, Siewert I, Ojeda MS. Taq IB polymorphism study of the CETP gene in patients with Type 2 Diabetes Mellitus in San Luis. XXXVII Congreso Argentina de Genética 2008, available in: http://www.conicet.gov.ar/new_scp/detalle. php?keywords=Tato&id =38110&con-gresos=yes&detalles=yes&con gr_id =1122465 (accessed on June 26, 2015)
   Google Scholar
• Papp A, Pinsonneault J, Wang P. Newman L, Gong Y, Johnson J, Pepine C, Kumari M, Hingoranu A, Talmud P. Shah 5, Humphries 5, Sadae W. Cholesteryl Ester Transferase Protein (CETP) polymorphisms affect mRNA splicing, HDL levels, and sex-dependent cardiovascular risk. PloS One 2012, 7: e31930.
   Google Scholar
• Giraldo A, Loango N, Castafio H, Lanclazuri P. Activity of the cholesteryl esters transfer protein. Polymorphisms in Colombian patients with coronary disease. Revista Colombiana de Cardiologia 2012; 19: 172–9 [article in Spanish]. (http://www.sciencedirect.com/science/article/pii/50120563312701274)
   Google Scholar
• Corella D, Saiz C, Guillen M, Portoles O, Mulet F, Gonzalez JI, Ordov6sJM. Association of TaqIB polymorphism in the cholesteryl ester transfer protein gene with plasma lipid levels in a healthy Spanish population. Atherosclerosis 2000; 152:367–76.
   Google Scholar
• Meguro 5, Takei I, Murata M, Hirose H, Takei N, Mitsuyoshi Y, Ishii K, Oguchi 5, Shinohara J, Takeshita E, Watanabe K, Saruta T. Cholesteryl ester transfer protein polymorphism associated with macroangiopathy in Japanese patients with type 2 diabetes. Atherosclerosis 2001; 156: 151–6.
   Google Scholar
• Castafión M, Lauricella A, Genoud V, Quintana J. Importance of the determination of homocysteine and C677T polymorphisms of methylenetetrahydrofolate reductase. Acta Bioquim Clin Latinoamerica 2006; 40: 335–9 [article in Spanish].
   Google Scholar
• Couto FD, Adorno EV, Menezes JF, Moura Neto JP, Rego MA, Reis MG, Gonçalves MS. C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador, Bahia, Brazil. Cad Saude Publica 2004; 20:529–33.
   Google Scholar
• Cardona H, Cardona-Maya W, Gomez JG, Castaneda 5, Gomez JM, Bedoya G, Alvarez L, Torres JD, Tobón LI, Cadavid A. Relationship between methylenetetrahydrofolate reductase polymorphism and homocysteine levels in women with recurrent pregnancy loss: a nutrigenetic perspective. Nutr Hosp 2008; 23:277–82 [article in Spanish].
   Google Scholar
• Morales-Machin A, Borjas-Fajardo L, Quintero JM, Zabala W, alvarez F, Delgado W, Hernández ML, Solis-Afiez E, Sanchez Y, Butrón Z. C677T polymorphism of the methylentetrahydrofolate reductase gene as risk factor in women with recurrent abortion. Invest Clin 2009; 50:327–33 [article in Spanish].
   Google Scholar
• Galanz-Hernández C, Sierra J, Sanchez R, Martinez M, Izquierdo I, Camacho A. Frequency of MTHFR C677T mutation in the general population of Tehuacan, Puebla. Mexico. XXIX Congreso de Genética Humana, Puebla 2005 ResOmenes GP07.
   Google Scholar
• Gutierrez J, Perez F, Tamparillas M, Calvo M. Absence of genetic selection on the frequency of C677T and Al 298C polymorphisms of methylenetetrahydrofolate reductase gene due to folate supplementation of the Spanish population. Quim Clin 2004; 23:132–6 [article in Spanish].
   Google Scholar
• Rosenberg N, Murata M, Ikeda Y, Opare-Sem O, Zivelin A, Geffen E, Seligsohn U. The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans. Am J Hum Genet 2002; 70: 758–62.
   Google Scholar
• Jimenez PM, Conde C, Casanegra A, Romero C, Tabares AH, Orias M. Association of ACE genotype and predominantly diastolic hypertension: a preliminary study. J Renin Angiotensin Aldosterone Syst 2007; 8:42–4.
   Google Scholar
• Munhoz T, Scheibe R, Schmitt V. Angiotensin converting enzyme (ACE) DD genotype: relationship with venous thrombosis. Rev Bras Hem atol Hemoter 2005; 27:87–9.
   Google Scholar
• Vargas C, Orostegui M, Ardela M, Cancelado 5, Bautista. L. Polimorfismos de los genes del sistema renina angiotensin aldosterona e hypertension arterial esencial. IX Congreso Red Latino Americana de Epidemiologia Clinica 2005, resOmenes p: 30.
   Google Scholar
• Pascuzzo-Lima C, Mendible J, Bonfant C. Angiotensin-converting enzyme insertion/deletion gene polymorphism and progression of Chagas cardiomyopathy. Rev Esp Cardio 2009; 62:320–2.
   Google Scholar
• Quintero-Ramos A, Valdez L, Hernandez G, Baltasar L, Padilla J, Valle Y, Rodarte K, Ortiz R, Ortiz-Aranda M, Olivares N, Rivas F. Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion. Gac Med Méx 2006; 142:95–8 [article in Spanish].
   Google Scholar
• Pamies E, Palmero C, Garcia R, Stiefel P. Miranda M, Martin V. The effect of the angiotensinogen M235T and the angiotensin-converting enzyme I/D polymorphisms on arterial hypertension and other cardiovascular risk factors. Med Clinic (Barc) 1999; 113: 164–8 [article in Spanish].
   Google Scholar
• Ishigami T, Iwamoto T, Tamura K, Yamaguchi 5, lwasawa K, Uchino K, Umemura 5, Ishii M. Angiotensin I converting enzyme (ACE) gene polymorphism and essential hypertension in Japan. Ethnic difference of ACE genotype. Am J Hypertens 1995; 8:95–7.
   Google Scholar
• Trimarchi H, Duboscq C, Lombi F, Murgan A, Young P. Rodriguez E. Activity of plasminogen activator inhibitor type-1 4G/5G polymorphism in chronic hemodialysis. Rev Nephrol Dial Transpl 2007; 27 suppi 2: 5153–8.
   Google Scholar
• Guimarhes D, Santos M, Rios D, Sabin° A, Cardoso J, Gomes K. Polymorphism (4G/5G) in the plasminogen activator inhibitor-1 (PAI1) promoter gene and its relationship with the PAI-1 plasma levels in women under oral hormone replacement therapy (HRT). J Thromb Haemost 2009; 7 Suppl 2: abstract PP-MO–363.
   Google Scholar
• Nufio-Aranda I, Paez L, Quintero JM, Muficiz F, Sandoval L, Pinto D. Distribution of 4G/5G polymorphism of PAI-1 promoter gene in mestizo and six ethnic groups in Mexico. XXIX Congreso de Genética Humana 2005. Vol. resümenes GP21.
   Google Scholar
• Isordia-Salas I, Leanos-Miranda A, Sainz IM, Reyes-Maldonado E, Borrayo-Sanchez G. Association of the plasminogen activator inhibitor-1 gene 4G/5G polymorphism with ST elevation acute myocardial infarction in young patients. Rev Esp Cardiol 2009; 62: 365–72.
   Google Scholar
• Tai ES, OrdovaS JM, Corella D, Deurenberg-Yap M, Chan E, Adiconis X, Chew SK, Loh LM, Tan CE.TheTaq1B and -629C> A polymorphisms at the cholesteryl ester transfer protein locus: associations with lipid levels in a multiethnic population. The 1998 Singapore National Health Survey. Clin Genet 2003; 63: 19–30.
   Google Scholar
• Frances F, Portoles O, Gabriel F, Corella D, Sorli JV, Sabater A, Alfonso JL, Guillén M. Factor V Leiden (G1691A) and prothrombin-G20210A alleles among patients with deep venous thrombosis and in the general population from Spain. Rev Med Chil 2006; 134:13–20 [article in Spanish].
   Google Scholar
• Sabina A, Ribeiro D, Guimarhes D, Soares A, Carvalho M, Fernandes A. Factor V Leiden: an important risk factor for venous and arterial thrombosis in Brazilian patients. J Thromb Haemost 2005; 3 (Supplement 1): abstract number P0439.
   Google Scholar
• Torres JD, Cardona H, Alvarez L, Cardona-Maya W, Castafieda SA, Quintero-Rivera F, Cadavid A, Bedoya G, Tobón L Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population. Am J Hematol 2006; 81: 933–7.
   Google Scholar
• Pestana Cl, Torres A, Blanco 5, Rojas MJ, Mendez C, Lopez JL, de Bosch NB, Porco A. Factor V Leiden and the risk of venous thrombosis, myocardial, and stroke: a case-control study in Venezuela. Genet Test Mol Biomarkers 2009; 13: 537–42.
   Google Scholar
• Hashimoto K, Shizusawa Y, Shimoya K, Ohashi K, Shimizu T, Azuma C, Murata Y. The factor V Leiden mutation in Japanese couples with recurrent spontaneous abortion. Hum Reprod 1999; 14: 1872–4.
   Google Scholar