2005, Number 2
<< Back Next >>
Gac Med Mex 2005; 141 (2)
Identifying different susceptibility loci associated with early onset diabetes and cardiovascular disease in Mexican families.
Canizales-Quinteros S, Huertas-Vázquez A, Riba-Ramírez L, Monroy-Guzmán A, Domínguez-López A, Romero-Hidalgo S, Aguilar-Salinas C, Rodríguez-Torres M, Ramírez-Jiménez S, Tusié-Luna MT
Language: Spanish
References: 48
Page: 115-122
PDF size: 60.80 Kb.
ABSTRACT
Coronary artery disease and diabetes mellitus are among the primary mortality and morbidity causes in Mexico. Genetic factors play a fundamental role in the development of these entities. In the past few years due to the recognition and study of families with monogenic forms of diabetes and dislipidemias associated with development of atherosclerosis, several genes and loci have been associated with these conditions through genetic linkage studies. These studies have provided evidence of the genetic heterogeneity that exists and the type of genes involved in different ethnic groups. The study of Mexican families with early-onset diabetes and combined familial hyperlipidemia showed the participation of different genetic loci associated with these conditions in the Mexican population. These findings show the value of gene mapping strategies in the identification of the genetic component in these entities in our population.
REFERENCES
Secretaría de Salud, Dirección General de Epidemiología. México. 1999
McCarthy MI.Growing evidence for diabetes susceptibility genes from genome scan data. Curr Diab Rep 2003;3:159-167.
Menzel S. Genetic and molecular analysis of complex metabolic disorders: genetic linkage. Ann N Y Acad Sci 2002;967:249-257.
Almind K, Doria A, Kahn CR. Putting the genes for type 11 diabetes on the map. Nat Med 2001;7(3):2779-2286.
Fajans SS, Bell GI, Bowden DW, Halter JB, Polonsky KS. Maturity onset diabetes of the young MODY Diabetes Med 1996;13:S90-S95.
Stoffers DA, Ferrer J, Ciarke WL, Habener JF. Early onset type 11 diabetes mellitus (MODY4) linked to IPF-1. Nature Genet 1997; 17:138-139.
Schwarz, Peters EH, Selisko T, Vcelak J, Rietzsch H, Benlova B, Schuize J. Identification of mutations in HNF1-alpha in Gestational Diabetes.. Diabetes 2001; 50: supplement 2. ABSTRACT
Reis AF, Ye WZ, Dubols_Laforgue D, Bellane-Chantelot C, Timsit J, Velho G. Mutations in the insulin promoter factor-1 gene in late onset type 2 diabetes mellitus. European.J. Endocrinol 2000;143:511-513.
Hansen L, Urioste S, Petersen HV, Jensen JN, Eiberg H, Barbetti- F, Serup P, Hansen T, Pedersen O. Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity -onset diabetes of the young and late-onset type 2 diabetes mellitus in Caucasians. J Clin Endo Metab 2000;851323-1326.
Hani EH, Stoffers DA, Chevre JC, Durand E, Stanojevic V, Dina C, Habener JF, Froguel P. Defective mutations in the insulin promoter factor (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest 1999;104:R41-R48.
Macfariene WE, Frayiing TM, Ellard S, Evans JC, Alien LI, Bulman MP, Ayres S, Shepard M, et al. Missense mutations in the insulin promoter factor 1 gene predispose to type 2 diabetes. J Clin Invest 1999;104:R33-R39.
Murray CJ, López AD. Alternative projections of mortality and disability by cause 1999-2020: Global burden of Disease Study Lancet 1997;349:1489-1504.
Grundy SM et al. Familial combined hyperlipidemia workshop. Arteriosclerosis 1987;7:203-210.
Goldstein JL et al. Hyperlipidemia in coronary heart disease ll. Genetic analysis of lipid levels in l76 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 1973;52:1544-1568.
Nikkiia EA, Aro A. Family study of serum lipids and lipoproteins in coronary heart disease. Lancet 1973:1:9544-9549.
Brunzell JD et al. Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. J Lip Res 1983:24:147.
Gagne EJ, et al. Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler Thromb 1994:14:1250-1257.
Reymer PW, et al. A frequently occurring mutation in the lipoprotein lipase gene (Asn291 Ser) contributes to the expression of familiar combined hyperlipidemia. Hum Mol Genet 1995:4:1543-1549.
Yang WS, et al. A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc Natl Acad Sci USA 1995:92:4462-4466.
Marcil M, et al. Lack of association of the apolipoprotein Al-Cili-AIV gene Xmni and Sstl polymorphisms and of the lipoprotein lipase gene mutations in familial combined lipoproteinemia in French Canadian subjects. J Lipid Res. 1996:37:309-319.
Wojciechowski, AP et al. Familial combined hyperlipidemia linked to the apolipoprotein Al-Clil-AIV gene cluster on chromosome 11 q23-q24. Nature 1991:349:161-164.
Dallinga-Thie GM, et al. Complex genetic contribution of the apoAI-CIII-A gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes. J Clin Invest 1997;99:953-961.
Wijsman EM, et al. Evidence against linkage of familiar combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. Arterioscler Thromb Vasc Bio 1998;18:215-226.
Pajukanta P, et al. Genome-wide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol and apolipoprotein B levels. Am J Hum Genet 1999;64:1453-1463.
Del Rincón Jarero JP, Aquilar Salinas C, Guillen Pineda LE, Gómez Pérez FJ, Rull JA. Lack of agreement between the plasma lipid-based criteria and apolipoprotein B for the diagnosis of familial combined hyperlipidemia in members of familiar combined hyperlipidemia kindreds. Metabolism 2002;51:218-224.
Buffone and Darlington. Isolation of DNA from biological specimens without extraction with phenol. 1985;31:164-165.
Orita M, Susuki Y, Sekida T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using polymerase chain reaction. Genomics 1989;5:874-879.
Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Stefano S, Stoffel M, Bell Gi. Mutations in the hepatocyte nuclear factor-4a gene in maturity-onset diabetes of the young. Nature 1996;384:458.460
Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, et al. Mutations in the hepatocyte nuclear factor-la gene in maturity-onset diabetes of the young. Nature 1996;384:455-458.
Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, et al. Mutations in the hepatocyte nuclear factor 1b gene (TCF2) associated with MODY. Nature Genet 1997;17:384-386.
Maleki MT, Jhala US, Antonellis A, Fieids L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Kroiewski AS. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nature Genet 1999;23:323-328.
Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, et al. Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. New Engl J Med 1993;328:697-702.
Hara M, Lindner TH, Paz VP, Wang X, Iwasaki N, Ogata M, Iwamoto Y, Bell GI. Mutations in the coding region of the insulin promoter factor 1 gene are not a common cause of maturity -Onset diabetes of the young in Japanese subjects Diabetes 1998; 47:845-847.
Bergman RN, Prager R, Volund A, Olefsky JM. Equivalence of the insulin sensitivity index in man derived by the minimal model method and the euglycemic glucose clamp. J Clin Invest 1987;79(3):790-800.
Ott J, Donis-Keiler H. Statistical methods in genetic mapping. Genomics 1994;22(2):496-497.
Shaffer LG, Jackson-Cook CK, Meyer JM, Brown JA, Spence JE. A molecular genetic approach to the identification of isochromosomes of chromosome 21. Hum. Genet 1991;86(4):375-382.
Kong A, Cox NJ. Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet 1997; 61(5):1179-1188.
Kruglyak L, et al. Parametric and nonparametric linkage analysis : a unified multipoint approach. Am J Hum Genet 1996:58 (5):1092-1093.
Xiang K, Wang Y, Zheng T, Sehn K, Jia W, Li J, Lin X, Wu S, Zhang G, Wang S and Lu H. Genome-Wide Scan Search for Type 2 Diabetes Susceptibility Loci in Chinese. Diabetes 2001;51(Suppl 2):A262.
Hanis CL, Boerwinkle E, Chakraborty R, Eilsworth DL, ConcannonP, Stirling VA, et al. A genome-wide search for human non-insulin dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nature Genet 1996;13:161-166.
Duggirala R, Blangero J, Almásy L, Dyer TD, Williams KL, Leach RJ, O’Connell P, Stern MP Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am J Hum Genet 1999;64:1127-1140.
Ehm MG, Karnoub MC, Sakul H, Gottschaik K, Holt DC, Weber JL, Vaske D, Briley D, Briley L, et al. Genome-wide search for type 2 diabetes susceptibility genes in four American populations. The American Diabetes Association GENNID Study Group. Am J Hum Genet 200;66:1871-1881.
Cox NJ, Frigge M, Nicolae DL, Concannon P, Hanis CI, Bell GI, Kong A. Loci on chromosome 2 (NIDDM) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nature Genet 1999;21:213-215.
Parker A, Mayer J, Lewitzki S, Rennich JS, Chan G, Thomás JD, Orho-Melander M, Lehtovirta M, et al. A gene conferring susceptibility to type 2 diabetes in conjunction with obesity is located on chromosome 18p11. Diabetes 2001;50:675-680.
Lindgren CM, Mahtani MM, Widén E, McCarthy MI, Daly MJ, Kirby A, Reeve MP, Kruglyak L, Parker A, et al. Genome-wide search for type 2 diabetes mellitus susceptibility loci in Finnish families: The Botnia Study. Am J Hum Genet 2002;70:509-516.
Pajukanta P, et al. Genome-wide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol and apolipoprotein B levels. Am J Hum Genet 1999:64:1453-1463.
Pei W et al. Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families. Clinical Genetics 2000:57:29-34.
Bodnar JS, et al. Positional cloning of the combined hyperlipidemia gene Hyplipl. Nature Genet 200218:110-116