Evidence map›Paper›PMID 29976977›Full record

ArticleEuropean journal of human genetics : EJHG2018

Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity.

Thanuja Selvanayagam, Susan Walker, Matthew J Gazzellone, Barbara Kellam, Cheryl Cytrynbaum, Dimitri J Stavropoulos, Ping Li, Catherine S Birken, Jill Hamilton, Rosanna Weksberg and 1 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
3.1field-weighted citation impact, top 8% 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

11 citing papers in PubMed, 27 citations in OpenAlex.

  1. Copy Number Variation Analysis.Methods in molecular biology (Clifton, N.J.) · 2026
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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 2 institutions in 1 country.

Thanuja SelvanayagamProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Susan WalkerProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Matthew J GazzelloneProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Barbara KellamProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Cheryl CytrynbaumProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-3742-1250
Dimitri J StavropoulosDepartment of Pediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.
Ping LiDivision of Endocrinology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Catherine S BirkenDivision of Pediatric Medicine, Hospital for Sick Children, Toronto, ON, Canada.
Jill HamiltonDivision of Endocrinology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Rosanna WeksbergProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. rweksb@sickkids.ca.
Stephen W SchererProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. stephen.scherer@sickkids.ca.
University of Toronto · CAHospital for Sick Children · CA

Funding

CIHR
6 · The paper itself

Abstract

Obesity is a multifactorial condition that is highly heritable. There have been ~60 susceptibility loci identified, but they only account for a fraction of cases. As copy number variations (CNVs) have been implicated in the etiology of a multitude of human disorders including obesity, here, we investigated the contribution of rare (<1% population frequency) CNVs in pediatric cases of obesity. We genotyped 67 such individuals, including 22 with co-morbid developmental delay and prioritized rare CNVs at known obesity-associated loci, as well as, those impacting genes involved in energy homeostasis or related processes. We identified clinically relevant or potentially clinically relevant CNVs in 15% (10/67) of individuals. Of these, 4% (3/67) had 16p11.2 microdeletions encompassing the known obesity risk gene SH2B1. Notably, we identified two unrelated probands harboring different 6p22.2 microduplications encompassing SCGN, a potential novel candidate gene for obesity. Further, we identified other biologically relevant candidate genes for pediatric obesity including ARID5B, GPR39, PTPRN2, and HNF4G. We found previously reported candidate loci for obesity, and new ones, suggesting CNV analysis may assist in the diagnosis of pediatric obesity.

Indexed as

DNA Copy Number VariationsGenetic LociAdaptor Proteins, Signal TransducingAdolescentChild, PreschoolDNA-Binding ProteinsFemaleGenome-Wide Association StudyHepatocyte Nuclear Factor 4HumansMaleObesityReceptor-Like Protein Tyrosine Phosphatases, Class 8Receptors, G-Protein-CoupledSecretagoginsTranscription FactorsAdaptor Proteins, Signal TransducingARID5B protein, humanDNA-Binding ProteinsGPR39 protein, humanHepatocyte Nuclear Factor 4HNF4G protein, humanPTPRN2 protein, humanReceptor-Like Protein Tyrosine Phosphatases, Class 8Receptors, G-Protein-CoupledSCGN protein, humanSecretagoginsSH2B1 protein, humanTranscription Factors

Identifiers

PMID29976977
PMCPMC6189095
OpenAlexW2881238725

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.