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Disease ID:703
Associated with:4 targets
Database Links
Disease Ontology: DOID:9970
OMIM: 601665


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
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


No ligand related data available for Obesity


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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]