Evidence map›Paper›PMID 38906141›Full record

ArticleMed (New York, N.Y.)2024

SMIM1 absence is associated with reduced energy expenditure and excess weight.

Luca Stefanucci, Camous Moslemi, Ana R Tomé, Samuel Virtue, Guillaume Bidault, Nicholas S Gleadall, Laura P E Watson, Jing E Kwa, Frances Burden, Samantha Farrow and 39 more

Abstract read
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In one paragraph

Article in Med (New York, N.Y.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

49 authors.

Luca StefanucciDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK; British Heart Foundation, Cambridge Centre for Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Camous MoslemiDepartment of Clinical Immunology, Zealand University Hospital (Roskilde University), Køge, Denmark.
Ana R ToméDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.
Samuel VirtueWellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Guillaume BidaultUniversity of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, MDU MRC, Addenbrooke's Hospital, Cambridge, UK.
Nicholas S GleadallDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.
Laura P E WatsonNIHR Cambridge Clinical Research Facility, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.
Jing E KwaWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Frances BurdenDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.
Samantha FarrowDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.
DBDS Genetic Consortium
Ji ChenDepartment of Clinical and Biomedical Sciences, University of Exeter Medical School, Faculty of Health and Life Sciences RILD Building, Barrack Road, Exeter, UK.
MAGIC
Urmo VõsaEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Keith BurlingNIHR Cambridge Biomedical Research Centre Core Biochemical Assay Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Lindsay WalkerDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.
John OrdDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.
Peter BarkerNIHR Cambridge Biomedical Research Centre Core Biochemical Assay Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
James WarnerWellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Amy FraryNIHR National BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
Karola RenhstromNIHR National BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
Sofie E AshfordNIHR National BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
Jo PiperNIHR Cambridge Clinical Research Facility, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.
Gail BiggsNIHR Cambridge Clinical Research Facility, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.
Wendy N ErberDiscipline of Pathology and Laboratory Science, School of Biomedical Sciences, The University of Western Australia, Perth, WA, Australia.
Gary J HoffmanDiscipline of Pathology and Laboratory Medicine, Medical School, The University of Western Australia, Perth, WA, Australia.
Nadia SchoenmakersWellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Christian ErikstrupDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus University, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Klaus RieneckDepartment of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Morten H DziegielDepartment of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Henrik UllumStatens Serum Institut, Copenhagen, Denmark.
Vian AzzuWellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK; Department of Gastroenterology, Norfolk & Norwich University Hospitals NHS Foundation Trust, Norwich, UK.
Michele VaccaWellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK; Interdisciplinary Department of Medicine, Università degli Studi di Bari "Aldo Moro", Bari, Italy; Roger Williams Institute of Hepatology, London, UK.
Hugo Javier AparicioDepartment of Neurology, Boston University School of Medicine, Boston, MA, USA.
Qin HuiAtlanta VA Medical Center, Decatur, GA, USA; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA.
Kelly ChoMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Yan V SunAtlanta VA Medical Center, Decatur, GA, USA; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA.
Peter W WilsonAtlanta VA Medical Center, Decatur, GA, USA; Emory University Schools of Medicine and Public Health, Atlanta, GA, USA.
Omer A BayraktarWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Antonio Vidal-PuigUniversity of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, MDU MRC, Addenbrooke's Hospital, Cambridge, UK; Centro de Innvestigacion Principe Felipe, Valencia, Spain.
Sisse R OstrowskiDepartment of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
William J AstleDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK; British Heart Foundation, Cambridge Centre for Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; MRC Biostatistics Unit, East Forvie Building, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.
Martin L OlssonClinical Immunology and Transfusion Medicine, Office for Medical Services, Region Skåne, Lund, Sweden; Department of Laboratory Medicine, Division of Hematology and Transfusion Medicine, Lund University, Lund, Sweden.
Jill R StorryClinical Immunology and Transfusion Medicine, Office for Medical Services, Region Skåne, Lund, Sweden; Department of Laboratory Medicine, Division of Hematology and Transfusion Medicine, Lund University, Lund, Sweden.
Ole B PedersenDepartment of Clinical Immunology, Zealand University Hospital (Roskilde University), Køge, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Willem H OuwehandDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK; Department of Haematology, Cambridge University Hospitals NHS Trust, CB2 0QQ Cambridge, UK; Department of Haematology, University College London Hospitals NHS Trust, NW1 2BU London, UK.
Krishna ChatterjeeWellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Dragana VuckovicDepartment of Epidemiology and Biostatistics, School of Public Health, Faculty of Medicine, Imperial College London, London, UK.
Mattia FrontiniDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK; British Heart Foundation, Cambridge Centre for Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Faculty of Health and Life Sciences RILD Building, Barrack Road, Exeter, UK. Electronic address: m.frontini@exeter.ac.uk.

Funding

QUANTITATION OF FACTORS REGULATING GLUCOSE TOLERANCER01DK029867 · NIDDK · UNIVERSITY OF SOUTHERN CALIFORNIA · PI MARILYN ADER · 1986 to 2026
$11.0M
BLRD VA I01 BX003340BLRD VA I01 BX004821British Heart Foundation FS/18/53/33863British Heart Foundation RG/18/7/33636NIDDK NIH HHS R01 DK029867Wellcome Trust 210755Wellcome Trust 210755/Z/18/ZWellcome Trust 219496
6 · The paper itself

Abstract

backgroundObesity 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.

methodsWe used a case-control approach to determine metabolic differences between individuals homozygous for a loss-of-function genetic variant in the small integral membrane protein 1 (SMIM1) and the general population, leveraging data from five cohorts. Metabolic characterization of SMIM1

findingsWe found that individuals homozygous for a loss-of-function genetic variant in SMIM1 gene, underlying the blood group Vel, display excess body weight, dyslipidemia, altered leptin to adiponectin ratio, increased liver enzymes, and lower thyroid hormone levels. This was accompanied by a reduction in resting energy expenditure.

conclusionThis research identified a novel genetic predisposition to being overweight or obese. It highlights the need to investigate the genetic causes of obesity to select the most appropriate treatment given the large cost disparity between them.

fundingThis work was funded by the National Institute of Health Research, British Heart Foundation, and NHS Blood and Transplant.

Indexed as

Energy MetabolismLeptinObesityAdiponectinAdultCase-Control StudiesFemaleHumansLoss of Function MutationMaleMembrane ProteinsMiddle AgedOverweightThyroid HormonesAdiponectinLeptinMembrane ProteinsSMIM1 protein, humanThyroid Hormonesblood groupsBMIdyslipidemiametabolismobesitypopulation geneticsSMIM1Translation to patientsVelweight

Identifiers

PMID38906141
PMCPMC7617389

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.