Genetics of human obesity;Génétique de l'obésité humaine

Revue de Medecine Interne

Volumn 26, Issue 10, 2005, Pages 802-811

  Lubrano Berthelier, C ^a   Clement K ^a,b  

^a INSERM   (France)

^b HÔTEL DIEU   (France)

Author keywords

Genetics; Leptin; Obesity; Polymorphism; Syndromes

Indexed keywords

AGOUTI RELATED PROTEIN; BRAIN DERIVED NEUROTROPHIC FACTOR; DNA; LEPTIN; LEPTIN RECEPTOR; MELANOCORTIN; MELANOCORTIN RECEPTOR; PROOPIOMELANOCORTIN; RNA;

ARTICLE; CORTICOTROPIN DEFICIENCY; DATA BASE; DIET; DISEASE ASSOCIATION; ENVIRONMENTAL CHANGE; GENE EXPRESSION; GENE MUTATION; GENETICS; GENOTYPE; GONADOTROPIN DEFICIENCY; HUMAN; LIFESTYLE; OBESITY; PHENOTYPE; SITTING;

EID: 26844524986     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/j.revmed.2005.03.017     Document Type: Short Survey

References (53)

1. R.P. Troiano, and K.M. Flegal Overweight children and adolescents: description, epidemiology, and demographics Pediatrics 101 1998 497 504
2. C.E. Flodmark, I. Lissau, L.A. Moreno, A. Pietrobelli, and K. Widhalm New insights into the field of children and adolescents' obesity: the European perspective Int. J. Obes. Relat. Metab. Disord. 28 2004 1189 1196
3. B. Heude, L. Lafay, J.M. Borys, N. Thibult, A. Lommez, and M. Romon Time trend in height, weight, and obesity prevalence in school children from Northern France, 1992-2000 Diabetes Metab. 29 2003 235 240
4. A.J. Stunkard, J.R. Harris, N.L. Pedersen, and G.E. McClearn The body-mass index of twins who have been reared apart N. Engl. J. Med. 322 1990 1483 1487
5. C. Bouchard Current understanding of the etiology of obesity: genetic and nongenetic factors Am. J. Clin. Nutr. 53 1991 1561S 1565S
6. D. Carmelli, L.R. Cardon, and R. Fabsitz Clustering of hypertension, diabetes, and obesity in adult male twins: same genes or same environments? Am. J. Hum. Genet. 55 1994 566 573
7. C.G. Bell, A.J. Walley, and P. Froguel The genetics of human obesity Nat. Rev. Genet. 6 2005 221 234
8. N. Katsanis, J.R. Lupski, and P.L. Beales Exploring the molecular basis of Bardet-Biedl syndrome Hum. Mol. Genet. 10 2001 2293 2299
9. N. Katsanis, S.J. Ansley, J.L. Badano, E.R. Eichers, R.A. Lewis, and B.E. Hoskins Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder Science 293 2001 2256 2259
10. A.M. Slavotinek, C. Searby, L. Al-Gazali, R.C. Hennekam, C. Schrander-Stumpel, and M. Orcana-Losa Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients Hum. Genet. 110 2002 561 567
11. Y. Fan, M.A. Esmail, S.J. Ansley, O.E. Blacque, K. Boroevich, and A.J. Ross Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome Nat. Genet. 36 2004 989 993
12. K. Mykytyn, D.Y. Nishimura, C.C. Searby, M. Shastri, H.J. Yen, and J.S. Beck Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome Nat. Genet. 31 2002 435 438
13. G.S. Barsh, I.S. Farooqi, and S. O'Rahilly Genetics of body-weight regulation Nature 404 2000 644 651
14. C.T. Montague, I.S. Farooqi, J.P. Whitehead, M.A. Soos, H. Rau, and N.J. Wareham Congenital leptin deficiency is associated with severe early-onset obesity in humans Nature 387 1997 903 908
15. K. Clement, C. Vaisse, N. Lahlou, S. Cabrol, V. Pelloux, and D. Cassuto A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction Nature 392 1998 398 401
16. H. Krude, H. Biebermann, W. Luck, R. Horn, G. Brabant, and A. Gruters Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans Nat. Genet. 19 1998 155 157
17. R.S. Jackson, J.W. Creemers, S. Ohagi, M.L. Raffin-Sanson, L. Sanders, and C.T. Montague Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene Nat. Genet. 16 1997 303 306
18. J.L. Holder Jr., N.F. Butte, and A.R. Zinn Profound obesity associated with a balanced translocation that disrupts the SIM1 gene Hum. Mol. Genet. 9 2000 101 108
19. G.S. Yeo, C.C. Connie Hung, J. Rochford, J. Keogh, J. Gray, and S. Sivaramakrishnan A de novo mutation affecting human TrkB associated with severe obesity and developmental delay Nat. Neurosci. 7 2004 1187 1189
20. B. Xu, E.H. Goulding, K. Zang, D. Cepoi, R.D. Cone, and K.R. Jones Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor Nat. Neurosci. 6 2003 736 742
21. R.D. Cone The Melanocortin-4 Receptor R.D. Cone The Melanocortin Receptors. First ed 2000 Humana Press Totowa, New Jersey 405 448
22. D. Huszar, C.A. Lynch, V. Fairchild-Huntress, J.H. Dunmore, Q. Fang, and L.R. Berkemeier Targeted disruption of the melanocortin-4 receptor results in obesity in mice Cell 88 1997 131 141
23. C. Vaisse, K. Clement, B. Guy-Grand, and P. Froguel A frameshift mutation in human MC4R is associated with a dominant form of obesity Nat. Genet. 20 1998 113 114
24. C. Vaisse, K. Clement, E. Durand, S. Hercberg, B. Guy-Grand, and P. Froguel Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity J. Clin. Invest. 106 2000 253 262
25. I.S. Farooqi, G.S. Yeo, J.M. Keogh, S. Aminian, S.A. Jebb, and G. Butler Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency J. Clin. Invest. 106 2000 271 279
26. B. Dubern, K. Clement, V. Pelloux, P. Froguel, J. Girardet, and B. Guy-Grand Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children J. Pediatr. 139 2001 204 209
27. A. Hinney, A. Schmidt, K. Nottebom, O. Heibult, I. Becker, and A. Ziegler Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans J. Clin. Endocrinol. Metab. 84 1999 1483 1486
28. E. Miraglia Del Giudice, G. Cirillo, V. Nigro, N. Santoro, L. D'Urso, and P. Raimondo Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity Int. J. Obes. Relat. Metab. Disord. 26 2002 647 651
29. P. Jacobson, O. Ukkola, T. Rankinen, E.E. Snyder, A.S. Leon, and D.C. Rao Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort J. Clin. Endocrinol. Metab. 87 2002 4442 4446
30. A. Dempfle, A. Hinney, M. Heinzel-Gutenbrunner, M. Raab, F. Geller, and T. Gudermann Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index J. Med. Genet. 41 2004 795 800
31. I.S. Farooqi, J.M. Keogh, G.S. Yeo, E.J. Lank, T. Cheetham, and S. O'Rahilly Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene N. Engl. J. Med. 348 2003 1085 1095
32. R. Branson, N. Potoczna, J.G. Kral, K.U. Lentes, M.R. Hoehe, and F.F. Horber Binge eating as a major phenotype of melanocortin 4 receptor gene mutations N. Engl. J. Med. 348 2003 1096 1103
33. S. Herpertz, W. Siffert, and J. Hebebrand Binge eating as a phenotype of melanocortin 4 receptor gene mutations N. Engl. J. Med. 349 2003 606 609 [author reply 606-9]
34. T. Gotoda Binge eating as a phenotype of melanocortin 4 receptor gene mutations N. Engl. J. Med. 349 2003 606 609 [author reply 606-9]
35. I.S. Farooqi, G.S. Yeo, and S. O'Rahilly Binge eating as a phenotype of melanocortin 4 receptor gene mutations N. Engl. J. Med. 349 2003 606 609 [author reply 606-9]
36. J. Hebebrand, F. Geller, A. Dempfle, M. Heinzel-Gutenbrunner, M. Raab, and G. Gerber Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations Mol. Psychiatry 9 2004 796 800
37. C. Lubrano-Berthelier, E. Durand, B. Dubern, A. Shapiro, P. Dazin, and J. Weill Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations Hum. Mol. Genet. 12 2003 145 153
38. W.A. Nijenhuis, J. Oosterom, and R.A. Adan AgRP(83-132) acts as an inverse agonist on the human-melanocortin-4 receptor Mol. Endocrinol. 15 2001 164 171
39. S. Srinivasan, C. Lubrano-Berthelier, C. Govaerts, F. Picard, P. Santiago, and B.R. Conklin Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans J. Clin. Invest. 114 2004 1158 1164
40. I.S. Farooqi, G. Matarese, G.M. Lord, J.M. Keogh, E. Lawrence, and C. Agwu Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency J. Clin. Invest. 110 2002 1093 1103
41. W.T. Gibson, I.S. Farooqi, M. Moreau, A.M. DePaoli, E. Lawrence, and S. O'Rahilly Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy J. Clin. Endocrinol. Metab. 89 2004 4821 4826
42. E.E. Snyder, B. Walts, L. Perusse, Y.C. Chagnon, S.J. Weisnagel, and T. Rankinen The human obesity gene map: the 2003 update Obes. Res. 12 2004 369 439
43. J. Hebebrand, S. Friedel, N. Schauble, F. Geller, and A. Hinney Perspectives: molecular genetic research in human obesity Obes. Rev. 4 2003 139 146
44. L. Perusse, and C. Bouchard Gene-diet interactions in obesity Am. J. Clin. Nutr. 72 2000 1285S 1290S
45. L. Perusse, and C. Bouchard Ǵńtiques de l'ob́sit́ et des complications ḿtaboliques dans l'́tude familiale qúb́coise Med. Sci. (Paris) 19 2003 937 942
46. J. Hager, C. Dina, S. Francke, S. Dubois, M. Houari, and V. Vatin A genome-wide scan for human obesity genes reveals a major susceptibility locus on chromosome 10 Nat. Genet. 20 1998 304 308
47. C.G. Bell, M. Benzinou, A. Siddiq, C. Lecoeur, C. Dina, and A. Lemainque Genome-wide linkage analysis for severe obesity in french caucasians finds significant susceptibility locus on chromosome 19q Diabetes 53 2004 1857 1865
48. D.B. Allison, and M. Heo Meta-analysis of linkage data under worst-case conditions: a demonstration using the human OB region Genetics 148 1998 859 865
49. I.S. Farooqi, J.M. Keogh, S. Kamath, S. Jones, W.T. Gibson, and R. Trussell Partial leptin deficiency and human adiposity Nature 414 2001 34 35
50. C. Le Stunff, D. Fallin, N.J. Schork, and P. Bougneres The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity Nat. Genet. 26 2000 444 446
51. K. Clement, J. Ruiz, A.M. Cassard-Doulcier, F. Bouillaud, D. Ricquier, and A. Basdevant Additive effect of A →G (-3826) variant of the uncoupling protein gene and the Trp64Arg mutation of the beta 3-adrenergic receptor gene on weight gain in morbid obesity Int. J. Obes. Relat. Metab. Disord. 20 1996 1062 1066
52. E. Suviolahti, L.J. Oksanen, M. Ohman, R.M. Cantor, M. Ridderstrale, and T. Tuomi The SLC6A14 gene shows evidence of association with obesity J. Clin. Invest. 112 2003 1762 1772
53. P. Boutin, C. Dina, F. Vasseur, S.S. Dubois, L. Corset, and K. Seron GAD2 on Chromosome 10p12 Is a Candidate Gene for Human Obesity PLoS Biol. 1 2003 E68