Estudios genéticos de la obesidad en humanos

Medicina Clinica - Tập 115 - Trang 103-110 - 2000
Tatiana Macho Azcárate1, Amelia Martí del Moral1, J. Alfredo Martínez Hernández1
1Departamento de Fisiología y Nutrición. Universidad de Navarra.

Tài liệu tham khảo

Cuatrecasas, 1999, Avances en la base genética de la obesidad, Med Clin (Barc), 112, 664 Aranceta, 1998, Prevalence of obesity in Spain: the SEEDO'97 Study, Med Clin (Barc), 111, 441 Montague, 1997, Congenital leptin deficiency is associated with severe early-onset obesity in humans, Nature (Lond), 387, 903, 10.1038/43185 Onions, 1998, Genetic markers at the leptin (OB) locus are not significantly linked to hypertension in African Americans, Hypertension, 31, 1230, 10.1161/01.HYP.31.6.1230 Mammès, 1998, Novel polymorphisms in the 5' region of the LEP gene, Diabetes, 47, 487, 10.2337/diabetes.47.3.487 Strobel, 1998, A leptin missense mutation associated with hypogonadism and morbid obesity, Nature Genet, 18, 213, 10.1038/ng0398-213 Oksanen, 1997, Functional analysis of the C(-188)A polymorphism of the human leptin promoter, Int J Obes Relat Met Disord, 21, 489, 10.1038/sj.ijo.0800436 Karvonen, 1998, Identification of new sequence variants in the leptin gene, J Clin Endocrinol Metab, 83, 3239, 10.1210/jc.83.9.3239 Clément, 1998, A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction, Nature (Lond), 392, 398, 10.1038/32911 Roth, 1998, Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents, Hum Genet, 103, 540, 10.1007/s004390050867 Walston, 1995, Time of onset of non-insulin dependent diabetes mellitus and genetic variation in the ®3-adrenergic-receptor gene, N Engl J Med, 333, 343, 10.1056/NEJM199508103330603 Widén, 1995, Association of a polymorphism in the ®3-adrenergic-receptor gene with features of the insulin resistance syndrome in Finns, N Engl J Med, 333, 348, 10.1056/NEJM199508103330604 Clément, 1995, Genetic variation in the ®3-adrenergic-receptor gene and an increased capacity to gain weight in patients with morbid obesity, N Engl J Med, 333, 352, 10.1056/NEJM199508103330605 Kadowaki, 1995, A mutation in the ®3-adrenergic-receptor gene is associated with obesity and hyperinsulinemia in Japanese subjects, Biochem Biophys Res Commun, 215, 555, 10.1006/bbrc.1995.2500 Urhammer, 1996, Insulin sensitivity and body weight changes in young white carriers of the codon 64 amino acid polymorphism of the ®3-adrenergic receptor gene, Diabetes, 45, 1115, 10.2337/diabetes.45.8.1115 Clément, 1996, Additive effect of A ? G (-3826) variant of the uncoupling protein gene and the Trp64Arg mutation of the ®3-adrenergic-receptor gene on weight gain in morbid obesity, Int J Obes Relat Met Disord, 20, 1062 Higashi, 1997, Association of a genetic variation in the ®3-adrenergic-receptor gene with coronary heart disease among Japanese, Biochem Biophys Res Commun, 232, 728, 10.1006/bbrc.1997.6339 Shima, 1997, Association of the Trp64Arg mutation of the ®3-adrenergic-receptor gene with fatty liver and mild glucose intolerance in Japanese subjects, Clin Chim Acta, 274, 167, 10.1016/S0009-8981(98)00059-X Mitchell, 1998, A paired sibling analysis of the ®3-adrenergic receptor and obesity in Mexican Americans, J Clin Invest, 101, 584, 10.1172/JCI512 García-Rubí, 1998, Trp64Arg variant of the ®3-adrenoceptor and insulin resistance in obese postmenopausal women, J Clin Endocrinol Metab, 83, 4002, 10.1210/jc.83.11.4002 Pihlajamäki, 1998, Different regulation of free fatty acid levels and glucose oxidaton by the Trp64Arg polymorphism of the ®3-adrenergic-receptor gene and the promoter variant (A-3826G) of the uncoupling protein 1 in familial combined hyperlipidemia, Metabolism, 47, 1397, 10.1016/S0026-0495(98)90312-2 Farlane-Anderson, 1998, The Trp64Arg mutation of the ®3-adrenergic-receptor gene is associated with hyperglycemia and current body mass index in Jamaican women, Metabolism, 47, 617, 10.1016/S0026-0495(98)90249-9 Umekawa, 1999, Trp64Arg mutation of the ®3-adrenoceptor gene deteriorates lipolysis induced by ®3-adrenoceptor agonist in human omental adipocytes, Diabetes, 48, 117, 10.2337/diabetes.48.1.117 Hoffstedt, 1999, Polymorphisms of the human ®-adrenoceptor gene forms a wellconserved haplotype that is associated with moderate obesity and altered receptor function, Diabetes, 48, 203, 10.2337/diabetes.48.1.203 Silver, 1997, Trp64Arg ®3-adrenergic-receptor and obesity in Mexican Americans, Hum Genet, 101, 306, 10.1007/s004390050633 Oksanen, 1996, Polymorphisms of the ®3-adrenergic-receptor gene in morbid obesity, Int J Obes Relat Met Disord, 20, 1055 Biery, 1997, The ®3-adrenergic-receptor Trp64Arg polymorphism and obesity in Alaskan Eskimos, Int J Obes Relat Met Disord, 21, 1176, 10.1038/sj.ijo.0800532 Nagase, 1997, Lack of association between the Trp64 Arg mutation in the ®3-adrenergic- receptor gene and obesity in Japanese Men: a longitudinal analysis, J Clin Endocrinol Metab, 82, 1284, 10.1210/jc.82.4.1284 Ueda, 1997, Prevalence of the Trp64Arg missense mutation of the ®3-adrenergic-receptor gene in Japanese subjects, Metabolism, 46, 199, 10.1016/S0026-0495(97)90302-4 Janssen, 1998, Lack of associations between serum leptin, a polymorphism in the gene for the ®3-adrenergic-receptor and glucose tolerance in the Dutch population, Clin Endocrinol, 49, 229, 10.1046/j.1365-2265.1998.00513.x Shiwaku, 1998, A Trp64Arg mutation in the ®3-adrenergic-receptor gene is not associated with moderate overweight in Japanese workers, Metabolism, 47, 1528, 10.1016/S0026-0495(98)90082-8 Büettner, 1998, The Trp64Arg polymorphism of the ®3-adrenergic-receptor gene is not associated with obesity or type 2 diabetes mellitus in a large population based Caucasian cohort, J Clin Endocrinol Metab, 83, 2892, 10.1210/jc.83.8.2892 Snitker, 1998, No effect of the Trp64Arg ®3-adrenergic-receptor gene on the plasma leptin concentration in Pima indians, Metabolism, 47, 1525, 10.1016/S0026-0495(98)90081-6 Vendrell, 1998, ®3-adrenoceptor gene polymorphism and leptin. Lack of relationship in type 2 diabetic patients, Clin Endocrinol, 49, 679, 10.1046/j.1365-2265.1998.00599.x Large, 1997, Human beta-2 adrenoceptor gene polymorphism are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoceptor function, J Clin Invest, 100, 3005, 10.1172/JCI119854 Echwald, 1998, Gln27Glu variant of the human ®2-adrenoceptor gene is not associated with early-onset obesity in Danish men, Diabetes, 47, 165, 10.2337/diabetes.47.10.1657 Mori, 1999, The Gln27Glu ®2-adrenergic receptor variant is associated with obesity due to subcutaneous accumulation in Japanese men, Biochem Biophys Res Commun, 258, 138, 10.1006/bbrc.1999.0607 Vaisse, 1998, A frameshift mutation in human MC4R is associated with a dominant form of obesity, Nature Genet, 20, 113, 10.1038/2407 Yeo, 1998, A frameshift mutation in MC4R associated with dominantly inherited human obesity, Nature Genet, 20, 111, 10.1038/2404 Norman, 1999, Absence of genetic variation in some obesity candidate genes (GLP1R, ASIP, MC4R, MC5R) among Pima Indians, Int J Obes Relat Met Disord, 23, 163, 10.1038/sj.ijo.0800786 O'Donohue, 1982, The opiomelanotropinergic neuronal and endocrine systems, Peptides, 3, 353, 10.1016/0196-9781(82)90098-5 Smith, 1988, Proopiomelanocortin processing in the pituitary, central nervous system and peripheral tissues, Endocr Rev, 9, 159, 10.1210/edrv-9-1-159 Comuzzie, 1997, A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2, Nature Genet, 15, 273, 10.1038/ng0397-273 Krude, 1998, Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans, Nature Genet, 19, 155, 10.1038/509 Echwald, 1999, Mutational analysis of the proopiomelanocortin gene in Caucasians with early onset obesity, Int J Obes Relat Met Disord, 23, 293, 10.1038/sj.ijo.0800814 Oppert, 1994, DNA polymorphism in the uncoupling protein (UCP) gene and human body fat, Int J Obes Relat Met Disord, 18, 526 Luickx, 1998, Influence of the A ? G (-3826) uncoupling protein-1 gene (UCP1) variant on the dynamics of body weight before and after gastroplasty in morbidly obese subjects, Int J Obes Relat Met Disord, 22, 1244, 10.1038/sj.ijo.0800775 Gagnon, 1998, DNA polymorphism in the uncoupling protein 1 (UCP1) gene has no effect on obesity related phenotypes in the Swedish Obese Subjects cohorts, Int J Obes Relat Met Disord, 22, 500, 10.1038/sj.ijo.0800613 Hamann, 1998, Analysis of the uncoupling protein 1 (UCP1) gene in obese and lean subjects: identification of four amino acid variants, Int J Obes Relat Met Disord, 22, 939, 10.1038/sj.ijo.0800725 Fumeron, 1996, Polymorphisms of uncoupling protein (UCP) and β3- adrenoceptor genes in obese people submitted to a low calorie diet, Int J Obes Relat Met Disord, 20, 1051 Fogelholm, 1998, Additive effects of the mutations in the ®3-adrenergic receptor and uncoupling protein-1 genes on weight loss and weight maintenance in Finnish women, J Clin Endocrinol Metab, 83, 4246, 10.1210/jc.83.12.4246 Klannemark, 1998, No relationship between identified variants in the uncoupling protein 2 gene and energy expenditure, Eur J Endocrinol, 139, 217, 10.1530/eje.0.1390217 Kubota, 1998, Molecular screening of uncoupling protein 2 gene in patients with noninsulindependent diabetes mellitus or obesity, J Clin Endocrinol Metab, 83, 2800, 10.1210/jc.83.8.2800 Argyropoulos, 1998, Structure and organization of the uncoupling protein 2 gene and identification of a common biallelic variant in Caucasian and African American subjects, Diabetes, 47, 67, 10.2337/diabetes.47.4.685 Otabe, 1998, Mutation screening of the human UCP2 in normoglycemic and NIDDM morbidly obese patients, Diabetes, 47, 840, 10.2337/diabetes.47.5.840 Shiinoki, 1999, Screening for variants of the uncoupling protein 2 gene in Japanese patients with non-insulin-dependent diabetes mellitus, Metabolism, 581, 10.1016/S0026-0495(99)90054-9 Bouchard, 1997, Linkage between markers in the vicinity of the uncoupling protein and resting metabolic rate in humans, Hum Mol Genet, 6, 1887, 10.1093/hmg/6.11.1887 Argyropoulos, 1998, Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes, J Clin Invest, 102, 1345, 10.1172/JCI4115 Fajas, 1998, PPAR©3 mRNA: a distinct PPAR© mRNA subtype transcribed from an independent promoter, FEBS Letters, 438, 55, 10.1016/S0014-5793(98)01273-3 Ribon, 1998, Thiazolidinediones and insulin resistance: peroxisome proliferator-activated receptor © activation stimulates expression of the CAP gene, Proc Natl Acad Sci, 95, 14751, 10.1073/pnas.95.25.14751 Ristow, 1998, Obesity associated with a mutation in a genetic regulator of adipocyte differentiation, N Engl J Med, 339, 953, 10.1056/NEJM199810013391403 Yen, 1997, Molecular scanning of the human peroxisome proliferator activated receptor © (hPPAR©) gene in diabetic Caucasians: identification of a Pro12Ala PPAR©2 missense mutation, Biochem Biophys Res Commun, 241, 270, 10.1006/bbrc.1997.7798 Beamer, 1997, Chromosomal localization and partial genomic structure of the human peroxisome proliferator activated receptor © (h PPAR©) gene, Biochem Biophys Res Commun, 233, 756, 10.1006/bbrc.1997.6540 Deeb, 1998, A Pro12Ala substitution in PPAR©2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity, Nature Genet, 20, 284, 10.1038/3099 Meirhaeghe, 1998, A genetic polymorphism of the peroxisome proliferator-activated receptor © gene influences plasma leptin levels in obese humans, Hum Mol Genet, 7, 435, 10.1093/hmg/7.3.435 Mori, 1998, Effect of the Pro12Ala variant of the human peroxisome proliferator activated receptor ©2 gene on adiposity fat distribution, and insulin sensitivity in Japanese men, Biochem Biophys Res Commun, 251, 195, 10.1006/bbrc.1998.9421 Hotta, 1998, Relationships of PPAR © and PPAR ©2 mRNA levels to obesity, diabetes and hyperinsulinemia in rhesus monkeys, Int J Obes Relat Met Disord, 22, 1000, 10.1038/sj.ijo.0800718 Bailyes, 1992, A member of the eukaryotic subtilisin family (PC3) has the enzymic properties of the type-I proinsulin-converting endopeptidase, Biochem J, 285, 391, 10.1042/bj2850391 Ohagi, 1996, Human prohormone convertase 3 gene: exon-intron organisation and molecular scanning for mutations in Japanese subjects with NIDDM, Diabetes, 45, 897, 10.2337/diabetes.45.7.897 Jackson, 1997, Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene, Nature Genet, 16, 303, 10.1038/ng0797-303 Kalidas, 1998, Prohormone convertase 1 in obesity, gestational diabetes mellitus, and NIDDM, Diabetes, 47, 287, 10.2337/diab.47.2.287 Munker, 1986, Recombinant human TNF induces production of granulocyte-monocyte colony-stimulating factor, Nature (Lond), 323, 79, 10.1038/323079a0 Nawroth, 1986, Modulation of endothelial cell hemostatic properties by tumour necrosis factor, J Exp Med, 163, 740, 10.1084/jem.163.3.740 Leibovich, 1987, Macrophage-induced angiogenesis is mediated by tumour necrosis factor-α, Nature (Lond), 329, 630, 10.1038/329630a0 Barath, 1990, Detection and localization of tumour necrosis factor in human atheroma, Am J Cardiol, 65, 297, 10.1016/0002-9149(90)90291-8 Vaddi, 1995, Increased secretion of tumour necrosis factor-α and interferon-© by mononuclear leukocytes in patients with ischemic heart disease: relevance in superoxide anion generation, Circulation, 90, 694, 10.1161/01.CIR.90.2.694 Hotamisligil, 1995, Increased adipose tissue expression of tumour necrosis factor-α in human obesity and insulin resistance, J Clin Invest, 95, 2409, 10.1172/JCI117936 Hotamisligil, 1993, Adipose expression of tumour necrosis factor-α; direct role in obesity-linked insulin resistance, Science, 259, 87, 10.1126/science.7678183 Norman, 1995, Genetic studies of the sulfonylurea receptor gene locus in NIDDM and in morbid obesity among French caucasians, Biophys Res Commun, 9, 158 Herrmann, 1998, Polymorphisms of the tumour necrosis factor-α gene, coronary heart disease and obesity, Int J Obes Relat Met Disord, 29, 59 Cook, 1998, Intracellular ATP directly blocks k channel in pancreatic ®-cells, Nature (Lond), 311, 271, 10.1038/311271a0 Thomas, 1995, Mutation in the sulfonylurea receptor (SUR) in familial persistent hyperinsulinemic hypoglycemia of infancy, Science, 268, 428, 10.1126/science.7716548 Inoue, 1996, Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM, Diabetes, 45, 825, 10.2337/diabetes.45.6.825 Boden, 1997, A genetic polymorphism in the regulatory sequence of human obesity, Diabetes, 45, 3, 10.2337/diabetes.46.1.3 Magré, 1998, Genetic mapping, identification of a mew dinucleotide repeat, and association with obesity and NIDDM, Diabetes, 47, 284, 10.2337/diab.47.2.284 Baker, 1994, Apolipoprotein-D gene polymorphism: a new genetic marker raker for type 2 diabetes subjects from Naurua and South India, Diabet Med, 11, 947, 10.1111/j.1464-5491.1994.tb00252.x Vijayaraghavan, 1994, Apolipoprotein-D polymorphism: a genetic marker for obesity and hyperinsulinemia, J Clin Endocrinol Metab, 79, 568, 10.1210/jc.79.2.568 Hegele, 1996, Genetic variation of intestinal fatty acid-binding protein associated with variation in body mass in aboriginal Canadians, J Clin Endocrinol Metab, 81, 4334, 10.1210/jc.81.12.4334 Hayakawa, 1999, Variation of the fatty acid binding protein 2 gene is not associated with obesity and insulin resistance in Japanese subjects, Metabolism, 48, 665, 10.1016/S0026-0495(99)90067-7 Lucarini, 1997, Low molecular weight acid phosphatase (ACP1), obesity and blood lipid levels in subjects with non-insulin-dependent diabetes mellitus, Human Biology, 69, 509 Martí, 1999, Leptin: physiological action, J Physiol Biochem, 55, 43