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.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Nutritional disorders
Overweight, obesity or specific nutrient excesses
Overweight or obesity
5B81 Obesity
H02106 Genetic obesity
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06529 Thermogenesis
H02106 Genetic obesity
Endocrine system
nt06324 GHRH-GH-IGF signaling
H02106 Genetic obesity
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
Title
Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.
del Giudice EM, Santoro N, Cirillo G, D'Urso L, Di Toro R, Perrone L
Title
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.
Ichimura A, Hirasawa A, Poulain-Godefroy O, Bonnefond A, Hara T, Yengo L, Kimura I, Leloire A, Liu N, Iida K, Choquet H, Besnard P, Lecoeur C, Vivequin S, Ayukawa K, Takeuchi M, Ozawa K, Tauber M, Maffeis C, Morandi A, Buzzetti R, Elliott P, Pouta A, Jarvelin MR, Korner A, Kiess W, Pigeyre M, Caiazzo R, Van Hul W, Van Gaal L, Horber F, Balkau B, Levy-Marchal C, Rouskas K, Kouvatsi A, Hebebrand J, Hinney A, Scherag A, Pattou F, Meyre D, Koshimizu TA, Wolowczuk I, Tsujimoto G, Froguel P
Title
Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human.
Durand E, Boutin P, Meyre D, Charles MA, Clement K, Dina C, Froguel P
Title
Polymorphisms in the amino acid transporter solute carrier family 6 (neurotransmitter transporter) member 14 gene contribute to polygenic obesity in French Caucasians.
Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstrale M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA
Title
Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.
Grarup N, Moltke I, Andersen MK, Dalby M, Vitting-Seerup K, Kern T, Mahendran Y, Jorsboe E, Larsen CVL, Dahl-Petersen IK, Gilly A, Suveges D, Dedoussis G, Zeggini E, Pedersen O, Andersson R, Bjerregaard P, Jorgensen ME, Albrechtsen A, Hansen T
Title
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes.
