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SMIM1 absence is as...
SMIM1 absence is associated with reduced energy expenditure and excess weight
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- Stefanucci, Luca (author)
- University of Cambridge
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- Moslemi, Camous (author)
- Zealand University Hospital
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- Tomé, Ana R (author)
- University of Cambridge
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show more...
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- Virtue, Samuel (author)
- University of Cambridge
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- Bidault, Guillaume (author)
- University of Cambridge
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- Gleadall, Nicholas S (author)
- University of Cambridge
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Watson, Laura P E (author)
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Kwa, Jing E (author)
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- Burden, Frances (author)
- University of Cambridge
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- Farrow, Samantha (author)
- University of Cambridge
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- Chen, Ji (author)
- University of Exeter
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- Võsa, Urmo (author)
- University of Tartu
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Burling, Keith (author)
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- Walker, Lindsay (author)
- University of Cambridge
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- Ord, John (author)
- University of Cambridge
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Barker, Peter (author)
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- Warner, James (author)
- University of Cambridge
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Frary, Amy (author)
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Renhstrom, Karola (author)
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Ashford, Sofie E (author)
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Piper, Jo (author)
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Biggs, Gail (author)
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- Erber, Wendy N (author)
- University of Western Australia, Crawley
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- Hoffman, Gary J (author)
- University of Western Australia, Crawley
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- Schoenmakers, Nadia (author)
- University of Cambridge
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- Erikstrup, Christian (author)
- Aarhus University Hospital
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- Rieneck, Klaus (author)
- University of Copenhagen
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- Dziegiel, Morten H (author)
- University of Copenhagen
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- Ullum, Henrik (author)
- Danish Serum Institute, Copenhagen
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- Azzu, Vian (author)
- University of Cambridge
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- Vacca, Michele (author)
- University of Cambridge
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- Aparicio, Hugo Javier (author)
- Boston University
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- Hui, Qin (author)
- Emory University Rollins School of Public Health
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- Cho, Kelly (author)
- Harvard Medical School
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Sun, Yan V (author)
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- Wilson, Peter W (author)
- Emory University
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- Bayraktar, Omer A (author)
- Wellcome Trust Sanger Institute
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- Vidal-Puig, Antonio (author)
- University of Cambridge
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- Ostrowski, Sisse R (author)
- University of Copenhagen
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- Astle, William J (author)
- University of Cambridge
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- Olsson, Martin L (author)
- Lund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Transfusionsmedicin,Forskargrupper vid Lunds universitet,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Transfusion Medicine,Lund University Research Groups,Medical Services, Region Skåne
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- Storry, Jill R (author)
- Lund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Transfusionsmedicin,Forskargrupper vid Lunds universitet,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Transfusion Medicine,Lund University Research Groups,Medical Services, Region Skåne
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- Pedersen, Ole B (author)
- University of Copenhagen
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- Ouwehand, Willem H (author)
- University of Cambridge
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- Chatterjee, Krishna (author)
- University of Cambridge
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- Vuckovic, Dragana (author)
- Imperial College London
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- Frontini, Mattia (author)
- University of Cambridge
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(creator_code:org_t)
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- English.
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In: Med (New York, N.Y.). - 2666-6340.
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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Abstract
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- BACKGROUND: 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.METHODS: We 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 -/- individuals was performed using plasma biochemistry, calorimetric chamber, and DXA scan. FINDINGS: We 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.CONCLUSION: This 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.FUNDING: This work was funded by the National Institute of Health Research, British Heart Foundation, and NHS Blood and Transplant.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Stefanucci, Luca
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Moslemi, Camous
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Tomé, Ana R
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Virtue, Samuel
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Bidault, Guillau ...
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Gleadall, Nichol ...
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show more...
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Watson, Laura P ...
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Kwa, Jing E
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Burden, Frances
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Farrow, Samantha
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Chen, Ji
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Võsa, Urmo
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Burling, Keith
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Walker, Lindsay
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Ord, John
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Barker, Peter
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Warner, James
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Frary, Amy
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Renhstrom, Karol ...
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Ashford, Sofie E
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Piper, Jo
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Biggs, Gail
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Erber, Wendy N
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Hoffman, Gary J
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Schoenmakers, Na ...
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Erikstrup, Chris ...
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Rieneck, Klaus
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Dziegiel, Morten ...
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Ullum, Henrik
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Azzu, Vian
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Vacca, Michele
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Aparicio, Hugo J ...
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Hui, Qin
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Cho, Kelly
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Sun, Yan V
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Wilson, Peter W
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Bayraktar, Omer ...
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Vidal-Puig, Anto ...
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Ostrowski, Sisse ...
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Astle, William J
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Olsson, Martin L
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Storry, Jill R
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Pedersen, Ole B
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Ouwehand, Willem ...
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Chatterjee, Kris ...
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Vuckovic, Dragan ...
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Frontini, Mattia
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Med (New York, N ...
- By the university
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Lund University