Genetische Ursachen der Adipositas
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Berulava T, Horsthemke B (2010) The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels. Eur J Hum Genet 18:1054–1056
Blüher S, Blüher M, Kiess W et al (2013) Genetik (3.1). In: Wirth A, Hauner H (Hrsg) Adipositas, 4. Aufl. Springer, Heidelberg, S 49–56
Cecil JE, Tavendale R, Watt P et al (2008) An obesity-associated FTO gene variant and increased energy intake in children. N Engl J Med 359:2558–2566
Church C, Moir L, McMurray F et al (2010) Overexpression of Fto leads to increased food intake and results in obesity. Nat Genet 42:1086–1092
Claussnitzer M, Dankel SN, Kim KH et al (2015) FTO obesity variant circuitry and adipocyte browning in humans. N Engl J Med 373:895–907
Dempfle A, Hinney A, Heinzel-Gutenbrunner M et al (2004) Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index. J Med Genet 41:795–800
Dick KJ, Nelson CP, Tsaprouni L et al (2014) DNA methylation and body-mass index: a genome-wide analysis. Lancet 383:1990–1998
Division of Genomic Medicine. A Catalog of Published Genome-Wide Association Studies. http://www.genome.gov/26525384c . Zugegriffen: 30. November 2016
Drummond EM, Gibney ER (2013) Epigenetic regulation in obesity. Curr Opin Clin Nutr Metab Care 16:392–397
Fischer J, Koch L, Emmerling C et al (2009) Inactivation of the Fto gene protects from obesity. Nature 458:894–898
Frayling TM, Timpson NJ, Weedon MN et al (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316:889–894
Hebebrand J, Hinney A, Knoll N et al (2013) Molecular genetic aspects of weight regulation. Dtsch Ärztebl Int 110:338–344
Hinney A, Herrfurth N, Schonnop L, Volckmar AL (2015) Genetic and epigenetic mechanisms in obesity. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 58:154–158
Hinney A, Holzapfel C (2012) Genetische Faktoren bei Adipositas. Molekulargenetische Befunde und deren Bedeutung. Adipositas 6:236–242
Hinney A, Volckmar AL, Knoll N (2013) Melanocortin-4 receptor in energy homeostasis and obesity pathogenesis. Prog Mol Biol Transl Sci 114:147–191
Jacquemont S, Reymond A, Zufferey F et al (2011) Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 478:97–102
Jarick I, Vogel CI, Scherag S et al (2011) Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis. Hum Mol Genet 20:840–852
Krude H, Biebermann H, Luck W et al (1998) Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 19:155–157
Kühnen P, Clément K, Wiegand S et al (2016) Proopiomelanocortin deficiency treated with a melanocortin-4 receptor agonist. N Engl J Med 375:240–246
Kühnen P, Handke D, Waterland RA et al (2016) Interindividual variation in DNA Methylation at a putative POMC metastable epiallele is associated with obesity. Cell Metab 24:502–509
Locke AE, Kahali B, Berndt SI et al (2015) Genetic studies of body mass index yield new insights for obesity biology. Nature 518:197–206
Moss A, Klenk J, Simon K et al (2012) Declining prevalence rates for overweight and obesity in German children starting school. Eur J Pediatr 171:289–289
Ramachandrappa S, Farooqi IS (2011) Genetic approaches to understanding human obesity. J Clin Invest 121:2080–2086
Slomko H, Heo HJ, Einstein FH (2012) Minireview: epigenetics of obesity and diabetes in humans. Endocrinology 153:1025–1030
Smemo S, Tena JJ, Kim KH et al (2014) Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature 507:371–375
Speakman JR (2015) The ‘Fat Mass and Obesity Related’ (FTO) gene: mechanisms of impact on obesity and energy balance. Curr Obes Rep 4:73–91
Speliotes EK, Willer CJ, Berndt SI et al (2010) Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 42:937–948
The Exome Aggregation Consortium. http://exac.broadinstitute.org/about . Zugegriffen: 30. November 2016
Wabitsch M, Funcke JB, Lennerz B et al (2015) Biologically inactive leptin and early-onset extreme obesity. N Engl J Med 372:48–54
Wabitsch M, Funcke JB, von Schnurbein J et al (2015) Severe early-onset obesity due to bioinactive leptin caused by a p.N103K mutation in the leptin gene. J Clin Endocrinol Metab 100:3227–3230
Walters RG, Coin LJ, Ruokonen A et al (2013) Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity. PLOS ONE 8:e58048
Wardle J, Carnell S, Haworth CM et al (2008) Obesity associated genetic variation in FTO is associated with diminished satiety. J Clin Endocrinol Metab 93:3640–3643