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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 703 | |
Name: | Obesity | |
Associated with: | 4 targets |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖β2-adrenoceptor | |
Role: | Mutations in ADRB2 are associated with susceptibility to obesity. |
Peroxisome proliferator-activated receptor-γ | |
Comments: | Mutation in the ligand-independent activation domain of PPAR-gamma2 causes overweight, increased level of PPAR-gamma2 mRNA in obese subjects |
References: | 1-3,5,7 |
Estrogen-related receptor-α | |
Comments: | There is significant association between ERR alpha promoter polymorphism and elevated body mass index (BMI). |
References: | 4 |
SHP | |
Comments: | Nishigori and collaborators identified mutations in the NR0B2 gene that segregated with mild or moderate early-onset obesity in Japanese subjects. In a screening of 173 unrelated Japanese subjects with early-onset diabetes, they identified 5 mutations in the NR0B2 gene, including an Arg34-to-Ter (R34X) mutation, in 6 moderately obese subjects. All of the mutations were present in heterozygous state and were found on further study to segregate with mild obesity rather than with diabetes. The R34X nonsense mutation was found also in 6 of 101 unrelated nondiabetic subjects with early-onset obesity. They also found an Ala195-to-Ser (A195S) missense mutation in the NR0B2 gene in mildly obese Japanese subjects with early-onset diabetes. The authors showed that the mutation segregated with early-onset mild obesity rather than with diabetes. |
References: | 6 |
Mutations: | SHP is associated with 2 mutation. Click here for details |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Obesity
1. Beamer BA, Yen CJ, Andersen RE, Muller D, Elahi D, Cheskin LJ, Andres R, Roth J, Shuldiner AR. (1998) Association of the Pro12Ala variant in the peroxisome proliferator-activated receptor-gamma2 gene with obesity in two Caucasian populations. Diabetes, 47 (11): 1806-8. [PMID:9792554]
2. Deeb SS, Fajas L, Nemoto M, Pihlajamäki J, Mykkänen L, Kuusisto J, Laakso M, Fujimoto W, Auwerx J. (1998) A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat Genet, 20 (3): 284-7. [PMID:9806549]
3. Ek J, Urhammer SA, Sørensen TI, Andersen T, Auwerx J, Pedersen O. (1999) Homozygosity of the Pro12Ala variant of the peroxisome proliferation-activated receptor-gamma2 (PPAR-gamma2): divergent modulating effects on body mass index in obese and lean Caucasian men. Diabetologia, 42 (7): 892-5. [PMID:10440134]
4. Kamei Y, Lwin H, Saito K, Yokoyama T, Yoshiike N, Ezaki O, Tanaka H. (2005) The 2.3 genotype of ESRRA23 of the ERR alpha gene is associated with a higher BMI than the 2.2 genotype. Obes Res, 13 (10): 1843-4. [PMID:16286534]
5. Kersten S, Desvergne B, Wahli W. (2000) Roles of PPARs in health and disease. Nature, 405 (6785): 421-4. [PMID:10839530]
6. Nishigori H, Tomura H, Tonooka N, Kanamori M, Yamada S, Sho K, Inoue I, Kikuchi N, Onigata K, Kojima I, Kohama T, Yamagata K, Yang Q, Matsuzawa Y, Miki T, Seino S, Kim MY, Choi HS, Lee YK, Moore DD, Takeda J. (2001) Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects. Proc Natl Acad Sci USA, 98 (2): 575-80. [PMID:11136233]
7. Valve R, Sivenius K, Miettinen R, Pihlajamäki J, Rissanen A, Deeb SS, Auwerx J, Uusitupa M, Laakso M. (1999) Two polymorphisms in the peroxisome proliferator-activated receptor-gamma gene are associated with severe overweight among obese women. J Clin Endocrinol Metab, 84 (10): 3708-12. [PMID:10523018]