{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T19:13:18Z","timestamp":1792177998682,"version":"4.4.0"},"reference-count":499,"publisher":"Portland Press Ltd.","issue":"12","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,6,1]]},"abstract":"<jats:p>In high-, middle- and low-income countries, the rising prevalence of obesity is the underlying cause of numerous health complications and increased mortality. Being a complex and heritable disorder, obesity results from the interplay between genetic susceptibility, epigenetics, metagenomics and the environment. Attempts at understanding the genetic basis of obesity have identified numerous genes associated with syndromic monogenic, non-syndromic monogenic, oligogenic and polygenic obesity. The genetics of leanness are also considered relevant as it mirrors some of obesity's aetiologies. In this report, we summarize ten genetically elucidated obesity syndromes, some of which are involved in ciliary functioning. We comprehensively review 11 monogenic obesity genes identified to date and their role in energy maintenance as part of the leptin\u2013melanocortin pathway. With the emergence of genome-wide association studies over the last decade, 227 genetic variants involved in different biological pathways (central nervous system, food sensing and digestion, adipocyte differentiation, insulin signalling, lipid metabolism, muscle and liver biology, gut microbiota) have been associated with polygenic obesity. Advances in obligatory and facilitated epigenetic variation, and gene\u2013environment interaction studies have partly accounted for the missing heritability of obesity and provided additional insight into its aetiology. The role of gut microbiota in obesity pathophysiology, as well as the 12 genes associated with lipodystrophies is discussed. Furthermore, in an attempt to improve future studies and merge the gap between research and clinical practice, we provide suggestions on how high-throughput \u2018-omic\u2019 data can be integrated in order to get closer to the new age of personalized medicine.<\/jats:p>","DOI":"10.1042\/cs20160136","type":"journal-article","created":{"date-parts":[[2016,5,7]],"date-time":"2016-05-07T04:48:13Z","timestamp":1462596493000},"page":"943-986","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":350,"title":["Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity"],"prefix":"10.1042","volume":"130","author":[{"given":"Marie","family":"Pigeyre","sequence":"first","affiliation":[{"name":"Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, Ontario, L8S 4L8, Canada"},{"name":"INSERM UMR 1190, Department of Nutrition, University of Lille, CHRU Lille, Lille, 59000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fereshteh\u00a0T.","family":"Yazdi","sequence":"additional","affiliation":[{"name":"Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, Ontario, L8S 4L8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuvreet","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, Ontario, L8S 4L8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Meyre","sequence":"additional","affiliation":[{"name":"Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, Ontario, L8S 4L8, Canada"},{"name":"Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, L8S 4L8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2016,5,6]]},"reference":[{"key":"2021113010433337300_B1","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1001\/jama.289.2.187","article-title":"Years of life lost due to obesity","volume":"289","author":"Fontaine","year":"2003","journal-title":"JAMA"},{"key":"2021113010433337300_B2","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1038\/sj.ijo.0802268","article-title":"Historical perspective: visceral obesity and related comorbidity in Joannes Baptista Morgagni's 'De sedibus et causis morborum per anatomen indagata'","volume":"27","author":"Enzi","year":"2003","journal-title":"Int. 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