Genetics and epigenetics in obesity

Positional cloning of the mouse obese gene and its human homologue

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Global, regional, and national prevalence of overweight and obesity in children and adults during 1980-2013: a systematic analysis for the Global Burden of Disease Study 2013

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A New Initiative on Precision Medicine

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Genetic studies of body mass index yield new insights for obesity biology

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A Common Variant in the <i>FTO</i> Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity

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Abdominal obesity and metabolic syndrome

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CpG islands and the regulation of transcription

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Years of Life Lost Due to Obesity

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Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

Yengo, L., Sidorenko, J., Kemper, K. E., Zheng, Z., Wood, A. R., Weedon, M. N., Frayling, T. M., Hirschhorn, J. N., Yang, J., & Visscher, P. M. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy271 · Cited by 2,305 · see citing works

Effects of Recombinant Leptin Therapy in a Child with Congenital Leptin Deficiency

Farooqi, I. S., Jebb, S. A., Langmack, G., Lawrence, E., Cheetham, C. H., Prentice, A. M., Hughes, I. A., McCamish, M. A., & O'Rahilly, S. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909163411204 · Cited by 1,998 · see citing works

Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene

Farooqi, I. S., Keogh, J. M., Yeo, G. S. H., Lank, E. J., Cheetham, T., & O'Rahilly, S. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa022050 · Cited by 1,778 · see citing works

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

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New genetic loci link adipose and insulin biology to body fat distribution

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Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency

Farooqi, I. S., Matarese, G., Lord, G. M., Keogh, J. M., Lawrence, E., Agwu, C., Sanna, V., Jebb, S. A., Perna, F., Fontana, S., et al. (2002) · Journal of Clinical Investigation · doi:10.1172/jci15693 · Cited by 1,359 · see citing works

<i>FTO</i> Obesity Variant Circuitry and Adipocyte Browning in Humans

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Common variants near MC4R are associated with fat mass, weight and risk of obesity

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An Adoption Study of Human Obesity

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The Body-Mass Index of Twins Who Have Been Reared Apart

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Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

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Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency

Farooqi, I. S., Matarese, G., Lord, G. M., Keogh, J. M., Lawrence, E., Agwu, C., Sanna, V., Jebb, S. A., Perna, F., Fontana, S., et al. (2002) · Journal of Clinical Investigation · doi:10.1172/jci0215693 · Cited by 1,105 · see citing works

Acute Exercise Remodels Promoter Methylation in Human Skeletal Muscle

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Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

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A Twin Study of Human Obesity

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Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

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Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

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DNA methylation and body-mass index: a genome-wide analysis

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Neurobiology of food intake in health and disease

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Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

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Human Leptin Deficiency Caused by a Missense Mutation: Multiple Endocrine Defects, Decreased Sympathetic Tone, and Immune System Dysfunction Indicate New Targets for Leptin Action, Greater Central than Peripheral Resistance to the Effects of Leptin, and Spontaneous Correction of Leptin-Mediated Defects

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A personal view on systems medicine and the emergence of proactive P4 medicine: predictive, preventive, personalized and participatory

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A Six Months Exercise Intervention Influences the Genome-wide DNA Methylation Pattern in Human Adipose Tissue

Rönn, T., Volkov, P., Davegårdh, C., Dayeh, T., Hall, E., Olsson, A. H., Nilsson, E., Tornberg, Å. B., Nitert, M. D., Eriksson, K., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003572 · Cited by 619 · see citing works

Sugar-Sweetened Beverages and Genetic Risk of Obesity

Qi, Q., Chu, A. Y., Kang, J., Jensen, M. K., Curhan, G. C., Pasquale, L. R., Ridker, P. M., Hunter, D. J., Willett, W. C., Rimm, E. B., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1203039 · Cited by 599 · see citing works

Genes, Genetics, and Epigenetics: A Correspondence

Wu, C.-T., & Morris, J. R. (2001) · Science · doi:10.1126/science.293.5532.1103 · Cited by 577 · see citing works

From big data analysis to personalized medicine for all: challenges and opportunities

Alyass, A., Turcotte, M., & Meyre, D. (2015) · BMC Medical Genomics · doi:10.1186/s12920-015-0108-y · Cited by 557 · see citing works

Obesity and Bariatric Surgery Drive Epigenetic Variation of Spermatozoa in Humans

Donkin, I., Versteyhe, S., Ingerslev, L. R., Qian, K., Mechta, M., Nordkap, L., Mortensen, B., Appel, E. V. R., Jørgensen, N., Kristiansen, V. B., et al. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2015.11.004 · Cited by 533 · see citing works

Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults

Licinio, J., Caglayan, S., Ozata, M., Yildiz, B. O., de Miranda, P. B., O'Kirwan, F., Whitby, R., Liang, L., Cohen, P., Bhasin, S., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308767101 · Cited by 505 · see citing works

Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist

Kühnen, P., Clément, K., Wiegand, S., Blankenstein, O., Gottesdiener, K., Martini, L. L., Mai, K., Blume-Peytavi, U., Grüters, A., & Krude, H. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1512693 · Cited by 485 · see citing works

Low Physical Activity Accentuates the Effect of the <i>FTO</i> rs9939609 Polymorphism on Body Fat Accumulation

Andreasen, C. H., Stender-Petersen, K. L., Mogensen, M. S., Torekov, S. S., Wegner, L., Andersen, G., Nielsen, A. L., Albrechtsen, A., Borch-Johnsen, K., Rasmussen, S. S., et al. (2008) · Diabetes · doi:10.2337/db07-0910 · Cited by 476 · see citing works

Genome-wide association study identifies 112 new loci for body mass index in the Japanese population

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THE NHLBI TWIN STUDY OF CARDIOVASCULAR DISEASE RISK FACTORS: METHODOLOGY AND SUMMARY OF RESULTS

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The heritability of body mass index among an international sample of monozygotic twins reared apart.

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Impact of common genetic determinants of hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

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Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity

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Profound obesity associated with a balanced translocation that disrupts the SIM1 gene

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Altered DNA Methylation and Differential Expression of Genes Influencing Metabolism and Inflammation in Adipose Tissue From Subjects With Type 2 Diabetes

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Genomic patterns of DNA methylation: targets and function of an epigenetic mark

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Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements

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The role of proopiomelanocortin (POMC) neurones in feeding behaviour

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Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach

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Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

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Common nonsynonymous variants in PCSK1 confer risk of obesity

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Pro-opiomelanocortin processing in the hypothalamus: impact on melanocortin signalling and obesity

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Physical Activity Attenuates the Genetic Predisposition to Obesity in 20,000 Men and Women from EPIC-Norfolk Prospective Population Study

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Weight Loss after Gastric Bypass Surgery in Human Obesity Remodels Promoter Methylation

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Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016

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MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

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An analysis of DNA methylation in human adipose tissue reveals differential modification of obesity genes before and after gastric bypass and weight loss

Benton, M. C., Johnstone, A. C., Eccles, D., Harmon, B. T., Hayes, M. T., Lea, R. A., Griffiths, L. R., Hoffman, E. P., Stubbs, R. S., & Macartney-Coxson, D. P. (2015) · Genome biology · doi:10.1186/s13059-014-0569-x · Cited by 273 · see citing works

Impact of age, BMI and HbA1c levels on the genome-wide DNA methylation and mRNA expression patterns in human adipose tissue and identification of epigenetic biomarkers in blood

Ronn, T., Volkov, P., Gillberg, L., Kokosar, M., Perfilyev, A., Jacobsen, A. L., Jorgensen, S. W., Brons, C., Jansson, P.-A., Eriksson, K.-F., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv124 · Cited by 270 · see citing works

Adipose tissue inflammation: a cause or consequence of obesity-related insulin resistance?

Blüher, M. (2016) · Clinical Science · doi:10.1042/cs20160005 · Cited by 262 · see citing works

Integrated Genetic and Epigenetic Analysis Identifies Haplotype-Specific Methylation in the FTO Type 2 Diabetes and Obesity Susceptibility Locus

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Genetic determinants of common obesity and their value in prediction

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Impaired Processing of Prohormones Associated with Abnormalities of Glucose Homeostasis and Adrenal Function

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Epigenome-wide study identifies novel methylation loci associated with body mass index and waist circumference

Aslibekyan, S. W., Demerath, E. W., Mendelson, M., Zhi, D., Guan, W., Liang, L., Sha, J., Pankow, J. S., Liu, C., Irvin, M. R., et al. (2015) · Obesity · doi:10.1002/oby.21111 · Cited by 210 · see citing works

Blood lipids influence DNA methylation in circulating cells

Dekkers, K., van Iterson, M., Slieker, R., Moed, M., Bonder, M., van Galen, M. V., Mei, H., Zhernakova, D., van den Berg, L. H., Deelen, J., et al. (2016) · Genome Biology · doi:10.1186/s13059-016-1000-6 · Cited by 198 · see citing works

Impact of polyunsaturated and saturated fat overfeeding on the DNA-methylation pattern in human adipose tissue: a randomized controlled trial1–3

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A systematic review of genetic syndromes with obesity

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DNA methylation of loci within ABCG1 and PHOSPHO1 in blood DNA is associated with future type 2 diabetes risk

Dayeh, T., Tuomilehto, J., Almgren, P., Perfilyev, A., Jansson, P., de Mello, V. D., Pihlajamäki, J., Vaag, A. A., Groop, L., Nilsson, E., et al. (2016) · Epigenetics · doi:10.1080/15592294.2016.1178418 · Cited by 195 · see citing works

CLOCK, PER2 and BMAL1 DNA Methylation: Association with Obesity and Metabolic Syndrome Characteristics and Monounsaturated Fat Intake

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DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels

Pfeiffer, L., Wahl, S., Pilling, L. C., Reischl, E., Sandling, J. K., Kunze, S., Holdt, L. M., Kretschmer, A., Schramm, K., Adamski, J., et al. (2015) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.114.000804 · Cited by 194 · see citing works

An Alu Element–Associated Hypermethylation Variant of the POMC Gene Is Associated with Childhood Obesity

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Rare variants in single-minded 1 (SIM1) are associated with severe obesity

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Many obesity-associated SNPs strongly associate with DNA methylation changes at proximal promoters and enhancers

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Lifestyle Intervention in Obese Children With Variations in the Melanocortin 4 Receptor Gene

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Distribution and heritability of BMI in Finnish adolescents aged 16 y and 17 y: A study of 4884 twins and 2509 singletons

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FTO Genotype and 2-Year Change in Body Composition and Fat Distribution in Response to Weight-Loss Diets

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Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features

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Leptin and adiponectin DNA methylation levels in adipose tissues and blood cells are associated with BMI, waist girth and LDL-cholesterol levels in severely obese men and women

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The Long-Term Dietitian and Psychological Support of Obese Patients Who Have Reduced Their Weight Allows Them to Maintain the Effects

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Effects of early-life exposure to Western diet and voluntary exercise on adult activity levels, exercise physiology, and associated traits in selectively bred High Runner mice

Cadney, M. D., Hiramatsu, L., Thompson, Z., Zhao, M., Kay, J., Singleton, J. M., de Albuquerque, R. L., Schmill, M. P., Wendy Saltzman, A., & Garland, T. (2021) · Physiology & Behavior · doi:10.1016/j.physbeh.2021.113389 · Cited by 22 · see citing works

The role of FGF19 in metabolic regulation: insights from preclinical models to clinical trials

de Carvalho, M. B., Jorge, G. M. C. P., Zanardo, L. W., Hamada, L. M., Izabel, L. D. S., Santoro, S., & Magdalon, J. (2024) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00156.2024 · Cited by 21 · see citing works

An Association between Diet and MC4R Genetic Polymorphism, in Relation to Obesity and Metabolic Parameters—A Cross Sectional Population-Based Study

Adamska-Patruno, E., Bauer, W., Bielska, D., Fiedorczuk, J., Moroz, M., Krasowska, U., Czajkowski, P., Wielogórska, M., Maliszewska, K., Puckowska, S., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222112044 · Cited by 21 · see citing works

Weight-centric treatment of depression and chronic pain

Ghusn, W., Bouchard, C., Frye, M. A., & Acosta, A. J. (2022) · Obesity Pillars · doi:10.1016/j.obpill.2022.100025 · Cited by 21 · see citing works

Decoding the Influence of Obesity on Prostate Cancer and Its Transgenerational Impact

Pereira, M., Pereira, S., Rebelo, I., Spadella, M. A., Oliveira, P. F., & Alves, M. G. (2023) · Nutrients · doi:10.3390/nu15234858 · Cited by 21 · see citing works

Artificial intelligence in the management of metabolic disorders: a comprehensive review

Anwar, A., Rana, S., & Pathak, P. (2025) · Journal of Endocrinological Investigation · doi:10.1007/s40618-025-02548-x · Cited by 21 · see citing works

PYY-mediated appetite control and obesity alleviation through short-chain fatty acid–driven gut-brain axis modulation by Lacticaseibacillus rhamnosus HF01 isolated from Qula

Sun, Y., Li, D., Zhao, L., Liu, X., Guan, K., Ma, Y., Wang, R., & Li, Q. (2025) · Journal of Dairy Science · doi:10.3168/jds.2024-26193 · Cited by 20 · see citing works

CXCL8 expression and methylation are correlated with anthropometric and metabolic parameters in childhood obesity

Lima, R. S., de Mattos, R. T., Medeiros, N. I., Kattah, F. M., Nascimento, J. R. S., Menezes, C. A., Rios-Santos, F., Dutra, W. O., Gomes, J. D. A. S., & Moreira, P. R. (2021) · Cytokine · doi:10.1016/j.cyto.2021.155538 · Cited by 20 · see citing works

Intersection between Obesity, Dietary Selenium, and Statin Therapy in Brazil

Watanabe, L. M., Navarro, A. M., & Seale, L. A. (2021) · Nutrients · doi:10.3390/nu13062027 · Cited by 20 · see citing works

Transition and persistence in the double burden of malnutrition and overweight or obesity: Evidence from South Africa

Azomahou, T. T., Diène, B., & Gosselin-Pali, A. (2022) · Food Policy · doi:10.1016/j.foodpol.2022.102303 · Cited by 20 · see citing works

A Hybrid MCDM Approach Based on Fuzzy-Logic and DEMATEL to Evaluate Adult Obesity

Safaei, M., Sundararajan, E. A., Asadi, S., Nilashi, M., Aziz, M. J. A., Saravanan, M., Abdelhaq, M., & Alsaqour, R. A. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph192315432 · Cited by 20 · see citing works

Genetic and epigenetic factors in obesity

Martinović, L. S., & Pavlić, S. D. (2026) · Best Practice &amp; Research Clinical Gastroenterology · doi:10.1016/j.bpg.2026.102151

Impact of Genetic Variations and Epigenetic Mechanisms on the Risk of Obesity

Chiurazzi, M., Cozzolino, M., Orsini, R. C., Maro, M. D., Minno, M. N. D. D., & Colantuoni, A. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21239035 · Cited by 32 · see citing works

Obesity and genetics

Golden, A. K., & Kessler, C. A. (2020) · Journal of the American Association of Nurse Practitioners · doi:10.1097/jxx.0000000000000447 · Cited by 30 · see citing works

Molecular Biology of Human Obesity: Non-epigenetics in Comparison with Epigenetic Processes

Albuquerque, D., Manco, L., & Nóbrega, C. (2017) · Springer eBooks · doi:10.1007/978-3-319-31143-2_7-1

Obesity, More than a ‘Cosmetic’ Problem. Current Knowledge and Future Prospects of Human Obesity Genetics

Shabana, S., & Hasnain, S. (2015) · Biochemical Genetics · doi:10.1007/s10528-015-9700-2 · Cited by 19 · see citing works