Evidence map›Paper›PMID 30878790›Full record

ArticleJournal of psychiatric research2019

Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa.

Xiao Chang, Huiqi Qu, Yichuan Liu, Joseph Glessner, Cuiping Hou, Fengxiang Wang, Jin Li, Patrick Sleiman, Hakon Hakonarson

Open access · greenAbstract read
In one paragraph

Article in Journal of psychiatric research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 32% 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

7 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
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  6. G3 (Bethesda, Md.) · 2019
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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

9 authors at 2 institutions in 2 countries.

Xiao ChangThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Huiqi QuThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Yichuan LiuThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Joseph GlessnerThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Cuiping HouThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Fengxiang WangThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Jin LiAffiliated Cancer Hospital & Institute of Guangzhou Medical University, Guangzhou, China.
Patrick SleimanThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Hakon HakonarsonThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. Electronic address: Hakonarson@chop.edu.
Children's Hospital of Philadelphia · USGuangzhou Medical University · CN

Funding

The Future of Genomics Medicine in Patient Care: Contributions from CHOPU01HG008684 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2015 to 2019
$5.0M
NHGRI NIH HHS U01 HG008684
6 · The paper itself

Abstract

Microduplication at 15q11.2 have been reported in genetic association studies of schizophrenia and autism. Given the potential overlap in psychiatric symptoms of schizophrenia and autism with anorexia nervosa (AN), we were inspired to test the association of this CNV locus with the genetic susceptibility of AN using ParseCNV, a highly quality controlled CNV pipeline developed by our group. The CNV analysis was performed in 1017 AN cases and 7250 controls using the Illumina HumanHap610 SNP arrays data. We uncovered association of the 15q11.2 microduplication with AN with P = 0.00023, while no genetic association between the microdeletion of this region and AN was identified. Among four genes in this region that are not imprinted, NIPA1 has the highest expression in brain and encodes a magnesium transporter protein on early endosomes and the cell surface in neurons. Targeting at Mg

Indexed as

AdultAnorexia NervosaChromosome DuplicationChromosomes, Human, Pair 15DNA Copy Number VariationsFemaleHumansMaleAnorexia nervosaCopy number variationCYFIP1NIPA1NIPA2

Identifiers

PMID30878790
PMCPMC6486445
OpenAlexW2913670724

What OpenQuestion holds

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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.