Genetic obesity

Definition:

Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important, genes also have a significant role in its pathogenesis. Several genes that are involved in monogenic, syndromic and polygenic obesity, have been identified.

References:

[1]. Atsuhiko Ichimura, et al. Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human. Nature. 2012 Feb 19;483(7389):350-4. [Content Brief]

[2]. Christopher G Bell, et al. The genetics of human obesity. Nat Rev Genet. 2005 Mar;6(3):221-34. [Content Brief]

[3]. E M del Giudice, et al. Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family. Diabetes. 2001 Sep;50(9):2157-60. [Content Brief]

[4]. Emmanuelle Durand, et al. Polymorphisms in the amino acid transporter solute carrier family 6 (neurotransmitter transporter) member 14 gene contribute to polygenic obesity in French Caucasians. Diabetes. 2004 Sep;53(9):2483-6. [Content Brief]

[5]. Eunyoung Ha, et al. Positive association of obesity with single nucleotide polymorphisms of syndecan 3 in the Korean population. J Clin Endocrinol Metab. 2006 Dec;91(12):5095-9. [Content Brief]

[6]. Lewis A Barness, et al. Obesity: genetic, molecular, and environmental aspects. Am J Med Genet A. 2007 Dec 15;143A(24):3016-34. [Content Brief]

[7]. Masato Asai, et al. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science. 2013 Jul 19;341(6143):275-8. [Content Brief]

[8]. Niels Grarup, et al. Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes. Nat Genet. 2018 Feb;50(2):172-174. [Content Brief]

[9]. O Ukkola, et al. Mutations in the preproghrelin/ghrelin gene associated with obesity in humans. J Clin Endocrinol Metab. 2001 Aug;86(8):3996-9. [Content Brief]

[10]. V Ceperuelo-Mallafré, et al. Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes. J Clin Endocrinol Metab. 2007 Sep;92(9):3640-5. [Content Brief]

[11]. Yasutomi Kamei, et al. PPARgamma coactivator 1beta/ERR ligand 1 is an ERR protein ligand, whose expression induces a high-energy expenditure and antagonizes obesity. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12378-83. [Content Brief]

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