Evidence map›Paper›PMID 30134862›Full record

ArticleBMC pediatrics2018

Relevance of polymorphisms in MC4R and BDNF in short normal stature.

Nikolas Herrfurth, Anna-Lena Volckmar, Triinu Peters, Gunnar Kleinau, Anne Müller, Cigdem Cetindag, Laura Schonnop, Manuel Föcker, Astrid Dempfle, Stefan A Wudy and 6 more

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

Article in BMC pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 40% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
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

16 authors at 6 institutions in 2 countries.

Nikolas HerrfurthDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Anna-Lena VolckmarDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Triinu PetersDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Gunnar KleinauInstitute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Anne MüllerInstitute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Cigdem CetindagInstitute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Laura SchonnopDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Manuel FöckerDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Astrid DempfleInstitute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, Kiel, Germany.
Stefan A WudyDivision of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Giessen, Germany.
Struan F A GrantDivisions of Human Genetics and Endocrinology, Children's Hospital of Philadelphia Research Institute, Philadelphia, USA.
Thomas ReinehrDepartment of Pediatric Endocrinology, Diabetes and Nutrition Medicine, Vestische Hospital for Children and Adolescents Datteln, University of Witten/Herdecke, Datteln, Germany.
Diana L CousminerDivisions of Human Genetics and Endocrinology, Children's Hospital of Philadelphia Research Institute, Philadelphia, USA.
Johannes HebebrandDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Heike BiebermannInstitute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Anke HinneyDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. anke.hinney@uni-due.de.ORCID 0000-0001-5659-0706
University of Duisburg-Essen · DEHumboldt-Universität zu Berlin · DEChildren's Hospital of Philadelphia · USChristian-Albrechts-Universität zu Kiel · DEGerman Center for Pediatric and Adolescent Rheumatology · DEWitten/Herdecke University · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVariation in genes of the leptinergic-melanocortinergic system influence both body weight and height. Because short normal stature (SNS) is characterized by reduced body height, delayed maturation and leanness, allelic variation of genes in this pathway are hypothesized to affect this common condition.

methodsWe analyzed the coding regions of LEP, MC4R, MRAP2 and BDNF in 185 children with SNS (height < 5th percentile) to search for non-synonymous and frameshift variants. For association studies (two-sided χ

resultsWe detected eleven variants predicted to be protein-altering, four in MC4R, four in BDNF, and three in MRAP2. No variants were found in LEP. In vitro analysis implied reduced function for the MC4R variant p.Met215Ile. Loss-of-function is contrary to expectations based on obesity studies, and thus does not support that this variant is relevant for SNS. The minor SNP alleles at MC4R p.Val103Ile and BDNF p.Val66Met were nominally associated with SNS.

conclusionTaken together, although genes of the leptinergic-melanocortinergic system are important for normal growth, our data do not support the involvement of rare mutations in LEP, MC4R, MRAP2 or BDNF in short normal stature.

Indexed as

MutationPolymorphism, GeneticAdaptor Proteins, Signal TransducingAdolescentBody HeightBrain-Derived Neurotrophic FactorCarrier ProteinsChildFemaleFrameshift MutationGene ExpressionGrowth DisordersHumansLeptinMaleReceptor, Melanocortin, Type 4Adaptor Proteins, Signal TransducingBDNF protein, humanBrain-Derived Neurotrophic FactorCarrier ProteinsLEP protein, humanLeptinMC4R protein, humanMRAP2 protein, humanReceptor, Melanocortin, Type 4FunctionHypothalamusWeight regulation

Identifiers

PMID30134862
PMCPMC6106737
OpenAlexW2888724113

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.