{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Stefanucci L"],"funding":["BLRD VA","British Heart Foundation","NNF Center for Basic Metabolic Research","Wellcome Trust"],"pagination":["1083-1095.e6"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7617389"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["5(9)"],"pubmed_abstract":["<h4>Background</h4>Obesity rates have nearly tripled in the past 50 years, and by 2030 more than 1 billion individuals worldwide are projected to be obese. This creates a significant economic strain due to the associated non-communicable diseases. The root cause is an energy expenditure imbalance, owing to an interplay of lifestyle, environmental, and genetic factors. Obesity has a polygenic genetic architecture; however, single genetic variants with large effect size are etiological in a minority of cases. These variants allowed the discovery of novel genes and biology relevant to weight regulation and ultimately led to the development of novel specific treatments.<h4>Methods</h4>We used a case-control approach to determine metabolic differences between individuals homozygous for a loss-o"],"journal":["Med (New York, N.Y.)"],"pubmed_title":["SMIM1 absence is associated with reduced energy expenditure and excess weight."],"pmcid":["PMC7617389"],"funding_grant_id":["210755/Z/18/Z","Hansen Group","219496/Z/19/Z","FS/18/53/33863","I01 BX004821","I01 BX003340","219496","RG/18/7/33636","210755"],"pubmed_authors":["Bowden DW","Neville MJ","Kawaguchi T","Verweij N","Brunak S","Zhao JH","Kleber ME","Matsuda F","Frary A","Tonjes A","Schurmann C","Schurmann A","de Haan HG","Sandow K","Bornstein SR","Van Vliet-Ostaptchouk JV","Zemunik T","Groop L","Saaristo TE","Walker M","Walker L","Erber WN","Nolte IM","Tsai MY","Jensen RA","Caulfield MJ","Ullum H","Wickremasinghe AR","Preuss M","Scott RA","Wang 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This creates a significant economic strain due to the associated non-communicable diseases. The root cause is an energy expenditure imbalance, owing to an interplay of lifestyle, environmental, and genetic factors. Obesity has a polygenic genetic architecture; however, single genetic variants with large effect size are etiological in a minority of cases. These variants allowed the discovery of novel genes and biology relevant to weight regulation and ultimately led to the development of novel specific treatments.<h4>Methods</h4>We used a case-control approach to determine metabolic differences between individuals homozygous for a loss-o","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Sep","modification":"2026-04-18T03:18:19.614Z","creation":"2025-04-04T00:29:44.335Z"},"accession":"S-EPMC7617389","cross_references":{"pubmed":["38906141"],"doi":["10.1016/j.medj.2024.05.015"]}}