Several mutations in the melanocortin 4 receptor gene are associated with obesity in Chinese children and adolescents

Journal of Endocrinological Investigation

Volumn 29, Issue 10, 2006, Pages 894-898

  Wang, C L ^a,d   Liang, L ^a   Wang, H J ^b   Fu, J Fen ^a   Hebebrand, J ^c   Hinney, A ^c  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b PEKING UNIVERSITY   (China)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

^d NONE   (China)

Author keywords

Children; Heterozygote; MC4R; Obesity; Sequencing

Indexed keywords

ALANINE; ALANINE AMINOTRANSFERASE; ARGININE; ASPARTATE AMINOTRANSFERASE; CHOLESTEROL; CYSTEINE; GLYCINE; INSULIN; ISOLEUCINE; LEUCINE; LYSINE; MELANOCORTIN 4 RECEPTOR; THREONINE; TRIACYLGLYCEROL; VALINE;

ADOLESCENT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BODY WEIGHT; CHINESE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; INSULIN SENSITIVITY; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; OBESITY; PATHOGENESIS; POLYMERASE CHAIN REACTION; PREVALENCE; SCHOOL CHILD; STOP CODON; TRIACYLGLYCEROL BLOOD LEVEL; WILD TYPE;

EID: 33846489214     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03349193     Document Type: Article

References (26)

1. Ste Marie L, Miura GI, Marsh DJ, Yagaloff K, Palmiter RD. A metabolic defect promotes obesity in mice lacking melanocortin-4 receptors. Proc Natl Acad Sci USA 2000, 97: 12339-44.
2. Farooqi IS, Yeo GS, Keogh JM, et al. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J Clin Invest 2000, 106: 271-9.
3. Cone RD. The central melanocortin system and energy homeostasis. Trends Endocrinol Metab 1999, 10: 211-6.
4. Huszar D, Dynch CA, Fairchild-Huntress V, et al. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 1997, 88: 131-41.
5. 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: 253-62.
6. Dubern B, Clement K, Pelloux V, et al. Mutational analysis of melanocortin-4 receptor, agouti-related protein, and α-melanocyte-stimulating hormone genes in severely obese children. J Pediatr 2001, 139: 204-9.
7. Lubrano-Berthelier C, Durand E, Dubern B, et al. Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. Hum Mol Genet 2003, 12: 145-53.
8. Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 2003, 348: 1085-95.
9. Hinney A, Hohmann S, Geller F, 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: 4258-67.
10. Ma L, Tataranni PA, Bogardus C, Baier LJ. Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians. Diabetes 2004, 53: 2696-9.
11. Ohshiro Y, Sanke T, Ueda K,Shimajiri Y, et al. Molecular scanning for mutations in the melanocortin-4 receptor gene in obese/diabetic Japanese. Ann Hum Genet 1999, 63: 483-7.
12. Kobayashi H, Ogawa Y, Shintani M, et al. A novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity. Diabetes 2002, 51: 243-6.
13. Cai SB, Jia WP, Fang QC, Shao XV, Zhang R, Xiang KS. P261S-A novel mutation of melanocortin 4 receptor gene in the obese patients. Chin J Endocrinol Metab 2004, 20: 372-5 (in Chinese).
14. Hu YM, Jiang ZF. ZHU Futang Textbook of Pediatrics. 7th ed. Beijing: People's Medical Publishing House. 2000, 27-9 (in Chinese).
15. Group of China Obesity Task Force. Body mass index reference norm for screening overweight and obesity in Chinese children and adolescents. Chin J Epidemiol 2004, 25: 97-102 (in Chinese).
16. Yeckel CW, Weiss R, Dziura J, et al. Validation of insulin sensitivity indices from oral glucose tolerance test parameters in obese children and adolescents. J Clin Endocrinol Metab 2004, 89: 1096-101.
17. Wang CL, Liang L, Fu JF, Hong F. Comparison of methods to detect insulin resistance in obese children and adolescents. Zhejiang Da Xue Xue Bao Yi Xue Ban 2005, 34: 316-9 (in Chinese).
18. Hinney A, Schmidt A, Nottebom K, 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: 1483-6.
19. 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: 976-9.
20. Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S. A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nat Genet 1998, 20: 111-2.
21. Miraglia Del Giudice E, Cirillo G, Nigro V, et al. Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity. Int J Obes Relat Metab Disord 2002, 26: 647-51.
22. Jacobson P, Ukkola O, Rankinen T, 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: 4442-4.
23. Tarnow P, Schoneberg T, Krude H, Gruters A, Biebermann H. Mutationally induced disulfide bond formation within the third extracellular loop causes melanocortin 4 receptor inactivation in patients with obesity. J Biol Chem 2003, 278: 48666-73.
24. Geller F, Reichwald K, Dempfle A, et al. Melanocortin-4 receptor gene variant 1103 is negatively associated with obesity. Am J Hum Genet 2004, 74: 572-81.
25. Heid IM, Vollmert C, Hinney A, et al. Association of the 1031 MC4R allele with decreased body mass in 7937 participants of two population based surveys. J Med Genet 2005, 42: e21.
26. Lubrano-Berthelier C, La Stunff C, Bougneres P, Vaisse C. A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans. J Clin Endocrinol Metab 2004, 89: 2028-32.