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.
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
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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
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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
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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
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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
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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
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Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes.
