Evidence map›Paper›PMID 30242240›Full record

ArticleInternational journal of obesity (2005)2019

Phenotypic and genetic analysis of an adult cohort with extreme obesity.

Priska Stahel, Shawn K Sud, So Jeong Lee, Timothy Jackson, David R Urbach, Allan Okrainec, Johane P Allard, Anne S Bassett, Andrew D Paterson, Sanjeev Sockalingam and 1 more

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Article in International journal of obesity (2005), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 27% of its field
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

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2022
    Article
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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

11 authors at 4 institutions in 1 country.

Priska StahelDepartment of Medicine and Endocrinology, University of Toronto, Toronto, ON, Canada.
Shawn K SudDepartment of Medicine and Endocrinology, University of Toronto, Toronto, ON, Canada.
So Jeong LeeDepartment of Medicine and Endocrinology, University of Toronto, Toronto, ON, Canada.
Timothy JacksonDivision of General Surgery, University Health Network, Toronto, ON, Canada.
David R UrbachDepartment of Surgery, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Allan OkrainecDepartment of Surgery, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Johane P AllardDepartment of Medicine, University of Toronto, Toronto, ON, Canada.
Anne S BassettThe Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, University Health Network, Toronto, ON, Canada.
Andrew D PatersonProgram in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Sanjeev SockalingamBariatric Surgery Department, Toronto Western Hospital, Toronto, ON, Canada.
Satya DashDepartment of Medicine and Endocrinology, University of Toronto, Toronto, ON, Canada. satya.dash@uhn.ca.
University of Toronto · CAHospital for Sick Children · CAToronto Western Hospital · CAUniversity Health Network · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

contextAdult extreme obesity (EO) is a growing health concern. The prevalence of known obesity associated co-morbidities namely cardio-metabolic and neuro-psychiatric disease in EO is not fully established. The contribution of pathogenic genetic variants, previously implicated in early childhood onset obesity, to adult EO is also not established.

objectiveWe undertook phenotypic and genetic analysis of adult patients with extreme obesity (EO, BMI > 50). Specifically, we assessed the prevalence of eating disorders, cardio-metabolic, and neuro-psychiatric disease and the presence of pathogenic variants in known monogenic obesity genes.

designA total of 55 patients with EO from a single site bariatric surgery referral program were assessed for the presence of eating disorders, cardio-metabolic, and neuro-psychiatric disease. The 54 obese (O) patients with a BMI < 50 from the same program were identified for phenotypic comparison. The 45 EO patients underwent whole exome sequencing to identify deleterious variants in known monogenic obesity genes. OUTCOMES: (1) Presence of eating disorders, cardio-metabolic, and neuro-psychiatric disease in EO compared to O. (2) Onset of obesity in the EO group. (3) Presence of deleterious variants in genes previously implicated in monogenic obesity in the EO group.

resultsThe EO group had higher prevalence of lifetime neuro-psychiatric disease (67.3% vs. 37%, p = 0.001) and sleep apnea (74.6% vs. 51.9%, p = 0.01) but lower prevalence of type 2 diabetes (30.1% vs. 50%, p = 0.045) compared to O. There were no significant differences in binge eating, dyslipidemia, hypertension, and cardiac disease. In the EO group, we found previously unreported singleton variants in NTRK2 (pS667W, bio-informatically predicted to be deleterious) and BDNF (pE23K). No previously confirmed loss of function variants in monogenic obesity genes were found.

conclusionsAdults with EO have significantly increased prevalence of neuro-psychiatric disease and a possibly lower burden of type 2 diabetes compared to less obese patients. Known monogenic causes of obesity were not highly prevalent in this cohort. Further studies are warranted to confirm these preliminary findings.

Indexed as

Body Mass IndexBrain-Derived Neurotrophic FactorCase-Control StudiesComorbidityFeeding and Eating DisordersFemaleHumansMaleMembrane GlycoproteinsMental DisordersMiddle AgedObesity, MorbidPhenotypePrevalenceReceptor, trkBBDNF protein, humanBrain-Derived Neurotrophic FactorMembrane GlycoproteinsReceptor, trkBtropomyosin-related kinase-B, human

Identifiers

PMID30242240
OpenAlexW2892130807

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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.