메뉴 건너뛰기




Volumn 31, Issue 9, 2007, Pages 1437-1441

The V103I polymorphism of the MC4R gene and obesity: Population based studies and meta-analysis of 29 563 individuals

Author keywords

Genetics; MC4R; Meta analysis; Polymorphism

Indexed keywords

MELANOCORTIN 4 RECEPTOR;

EID: 34547831224     PISSN: 03070565     EISSN: 14765497     Source Type: Journal    
DOI: 10.1038/sj.ijo.0803609     Document Type: Article
Times cited : (127)

References (34)
  • 2
    • 0033927916 scopus 로고    scopus 로고
    • Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
    • Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 2000; 106: 253-262.
    • (2000) J Clin Invest , vol.106 , pp. 253-262
    • Vaisse, C.1    Clement, K.2    Durand, E.3    Hercberg, S.4    Guy-Grand, B.5    Froguel, P.6
  • 4
    • 0037312921 scopus 로고    scopus 로고
    • Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease
    • Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003; 33: 177-182.
    • (2003) Nat Genet , vol.33 , pp. 177-182
    • Lohmueller, K.E.1    Pearce, C.L.2    Pike, M.3    Lander, E.S.4    Hirschhorn, J.N.5
  • 6
    • 0032795012 scopus 로고    scopus 로고
    • EPIC-Norfolk: Study design and characteristics of the cohort. European Prospective Investigation of Cancer
    • Day N, Oakes S, Luben R, Khaw KT, Bingham S, Welch A et al. EPIC-Norfolk: study design and characteristics of the cohort. European Prospective Investigation of Cancer. Br J Cancer 1999; 80 (Suppl 1): 95-103.
    • (1999) Br J Cancer , vol.80 , Issue.SUPPL. 1 , pp. 95-103
    • Day, N.1    Oakes, S.2    Luben, R.3    Khaw, K.T.4    Bingham, S.5    Welch, A.6
  • 8
    • 0032949675 scopus 로고    scopus 로고
    • Fasting proinsulin concentrations predict the development of type 2 diabetes
    • Wareham NJ, Byrne CD, Williams R, Day NE, Hales CN. Fasting proinsulin concentrations predict the development of type 2 diabetes. Diabetes Care 1999; 22: 262-270.
    • (1999) Diabetes Care , vol.22 , pp. 262-270
    • Wareham, N.J.1    Byrne, C.D.2    Williams, R.3    Day, N.E.4    Hales, C.N.5
  • 9
    • 0030740803 scopus 로고    scopus 로고
    • Molecular screening of the human melanocortin-4 receptor gene: Identification of a missense variant showing no association with obesity, plasma glucose, or insulin
    • Gotoda T, Scott J, Aitman TJ. Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin. Diabetologia 1997; 40: 976-979.
    • (1997) Diabetologia , vol.40 , pp. 976-979
    • Gotoda, T.1    Scott, J.2    Aitman, T.J.3
  • 10
    • 0033010326 scopus 로고    scopus 로고
    • Identification and functional analysis of novel human melanocortin-4 receptor variants
    • Gu W, Tu Z, Kleyn PW, Kissebah A, Duprat L, Lee J et al. Identification and functional analysis of novel human melanocortin-4 receptor variants. Diabetes 1999; 48: 635-639.
    • (1999) Diabetes , vol.48 , pp. 635-639
    • Gu, W.1    Tu, Z.2    Kleyn, P.W.3    Kissebah, A.4    Duprat, L.5    Lee, J.6
  • 11
    • 0033495921 scopus 로고    scopus 로고
    • Molecular scanning for mutations in the melanocortin-4 receptor gene in obese/diabetic Japanese
    • Ohshiro Y, Sanke T, Ueda K, Shimajiri Y, Nakagawa T, Tsunoda K et al. Molecular scanning for mutations in the melanocortin-4 receptor gene in obese/diabetic Japanese. Ann Hum Genet 1999; 63: 483-487.
    • (1999) Ann Hum Genet , vol.63 , pp. 483-487
    • Ohshiro, Y.1    Sanke, T.2    Ueda, K.3    Shimajiri, Y.4    Nakagawa, T.5    Tsunoda, K.6
  • 12
    • 0034905674 scopus 로고    scopus 로고
    • Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children
    • Dubern B, Clement K, Pelloux V, Froguel P, Girardet J-P, Guy-Grand B et al. Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. J Pediatr 2001; 139: 204-209.
    • (2001) J Pediatr , vol.139 , pp. 204-209
    • Dubern, B.1    Clement, K.2    Pelloux, V.3    Froguel, P.4    Girardet, J.-P.5    Guy-Grand, B.6
  • 13
    • 0034771191 scopus 로고    scopus 로고
    • A missense mutation in the human melanocortin-4 receptor gene in relation to abdominal obesity and salivary cortisol
    • Rosmond R, Chagnon M, Bouchard C, Bjorntorp P. A missense mutation in the human melanocortin-4 receptor gene in relation to abdominal obesity and salivary cortisol. Diabetologia 2001; 44: 1335-1338.
    • (2001) Diabetologia , vol.44 , pp. 1335-1338
    • Rosmond, R.1    Chagnon, M.2    Bouchard, C.3    Bjorntorp, P.4
  • 14
    • 0036257961 scopus 로고    scopus 로고
    • Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity
    • Miraglia del Giudice E, Cirillo G, Nigro V, Santoro N, D'Urso L, Raimondo P et al. Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity. Int J Obes 2002; 26: 647-651.
    • (2002) Int J Obes , vol.26 , pp. 647-651
    • Miraglia del Giudice, E.1    Cirillo, G.2    Nigro, V.3    Santoro, N.4    D'Urso, L.5    Raimondo, P.6
  • 15
    • 18644363563 scopus 로고    scopus 로고
    • Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: The Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis Cohort
    • Jacobson P, Ukkola O, Rankinen T, Snyder EE, Leon AS, Rao DC et al. 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 2002; 87: 4442-4446.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4442-4446
    • Jacobson, P.1    Ukkola, O.2    Rankinen, T.3    Snyder, E.E.4    Leon, A.S.5    Rao, D.C.6
  • 17
    • 0037350649 scopus 로고    scopus 로고
    • A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population
    • Marti A, Corbalan MS, Forga L, Martinez JA, Hinney A, Hebebrand J. A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population. Int J Obes 2003; 27: 385-388.
    • (2003) Int J Obes , vol.27 , pp. 385-388
    • Marti, A.1    Corbalan, M.S.2    Forga, L.3    Martinez, J.A.4    Hinney, A.5    Hebebrand, J.6
  • 19
    • 10744227887 scopus 로고    scopus 로고
    • Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: Description and functional characterization of a novel mutation
    • Santini F, Maffei M, Ceccarini G, Pelosini C, Scartabelli G, Rosellini V et al. Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation. J Clin Endocrinol Metab 2004; 89: 904-908.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 904-908
    • Santini, F.1    Maffei, M.2    Ceccarini, G.3    Pelosini, C.4    Scartabelli, G.5    Rosellini, V.6
  • 20
  • 21
    • 12244281827 scopus 로고    scopus 로고
    • Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity
    • Larsen LH, Echwald SM, Sorensen TI, Andersen T, Wulff BS, Pedersen O. Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. J Clin Endocrinol Metab 2005; 90: 219-224.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 219-224
    • Larsen, L.H.1    Echwald, S.M.2    Sorensen, T.I.3    Andersen, T.4    Wulff, B.S.5    Pedersen, O.6
  • 23
    • 28544447162 scopus 로고    scopus 로고
    • Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys
    • Heid IM, Vollmert C, Hinney A, Doring A, Geller F, Lowel H et al. Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. J Med Genet 2005; 42: e21.
    • (2005) J Med Genet , vol.42
    • Heid, I.M.1    Vollmert, C.2    Hinney, A.3    Doring, A.4    Geller, F.5    Lowel, H.6
  • 24
    • 0141564582 scopus 로고    scopus 로고
    • Melanocortin-4 receptor gene: Case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity
    • Hinney A, Hohmann S, Geller F, Vogel C, Hess C, Wermter A-K et al. Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. J Clin Endocrinol Metab 2003; 88: 4258-4267.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4258-4267
    • Hinney, A.1    Hohmann, S.2    Geller, F.3    Vogel, C.4    Hess, C.5    Wermter, A.-K.6
  • 25
    • 0033544936 scopus 로고    scopus 로고
    • Functional characterization of mutations in melanocortin-4 receptor associated with human obesity
    • Ho G, MacKenzie RG. Functional characterization of mutations in melanocortin-4 receptor associated with human obesity. J Biol Chem 1999; 274: 35816-35822.
    • (1999) J Biol Chem , vol.274 , pp. 35816-35822
    • Ho, G.1    MacKenzie, R.G.2
  • 26
    • 33745036725 scopus 로고    scopus 로고
    • Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist
    • Xiang Z, Litherland SA, Sorensen NB, Wood MS, Shaw AM, Millard WJ et al. Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist. Biochemistry 2006; 45: 7277-7288.
    • (2006) Biochemistry , vol.45 , pp. 7277-7288
    • Xiang, Z.1    Litherland, S.A.2    Sorensen, N.B.3    Wood, M.S.4    Shaw, A.M.5    Millard, W.J.6
  • 27
    • 26444540359 scopus 로고    scopus 로고
    • Postembryonic ablation of AgRP neurons in mice leads to a lean, hypophagic phenotype
    • Bewick GA, Gardiner JV, Dhillo WS, Kent AS, White NE, Webster Z et al. Postembryonic ablation of AgRP neurons in mice leads to a lean, hypophagic phenotype. FASEB J 2005; 19: 1680-1682.
    • (2005) FASEB J , vol.19 , pp. 1680-1682
    • Bewick, G.A.1    Gardiner, J.V.2    Dhillo, W.S.3    Kent, A.S.4    White, N.E.5    Webster, Z.6
  • 29
    • 0030764741 scopus 로고    scopus 로고
    • Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein
    • Ollmann MM, Wilson BD, Yang Y-K, Kerns JA, Chen Y, Gantz I et al. Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein. Science 1997; 278: 135-138.
    • (1997) Science , vol.278 , pp. 135-138
    • Ollmann, M.M.1    Wilson, B.D.2    Yang, Y.-K.3    Kerns, J.A.4    Chen, Y.5    Gantz, I.6
  • 31
    • 0343953074 scopus 로고    scopus 로고
    • Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency
    • Farooqi IS, Yeo GSH, Keogh JM, Aminian S, Jebb SA, Butler G et al. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J Clin Invest 2000; 106: 271-279.
    • (2000) J Clin Invest , vol.106 , pp. 271-279
    • Farooqi, I.S.1    Yeo, G.S.H.2    Keogh, J.M.3    Aminian, S.4    Jebb, S.A.5    Butler, G.6
  • 32
    • 0033343736 scopus 로고    scopus 로고
    • Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans
    • Hinney A, Schmidt A, Nottebom K, Heibult O, Becker I, Ziegler A et al. 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 1999; 84: 1483-1486.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1483-1486
    • Hinney, A.1    Schmidt, A.2    Nottebom, K.3    Heibult, O.4    Becker, I.5    Ziegler, A.6
  • 33
    • 0041708012 scopus 로고    scopus 로고
    • Binge eating as a phenotype of melanocortin 4 receptor gene mutations
    • Herpertz S, SiffertW, Hebebrand J. Binge eating as a phenotype of melanocortin 4 receptor gene mutations. N Engl J Med 2003; 349: 606-607.
    • (2003) N Engl J Med , vol.349 , pp. 606-607
    • Herpertz, S.1    Siffert, W.2    Hebebrand, J.3
  • 34


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.