Evidence map›Paper›PMID 28178086›Full record

ArticlePsychiatric genetics2017

Identification of rare nonsynonymous variants in SYNE1/CPG2 in bipolar affective disorder.

Sally Isabel Sharp, Jenny Lange, Radhika Kandaswamy, Mazen Daher, Adebayo Anjorin, Nicholas James Bass, Andrew McQuillin

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

Article in Psychiatric genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 25% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

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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

7 authors at 1 institution in 2 countries.

Sally Isabel Sharp *Molecular Psychiatry Laboratory, Division of Psychiatry, University College London, Rockefeller Building, 21 University Street, London, WC1E 6JJ, UK.
Jenny Lange *Molecular Psychiatry Laboratory, Division of Psychiatry, University College London, Rockefeller Building, 21 University Street, London, WC1E 6JJ, UK.
Radhika KandaswamyMolecular Psychiatry Laboratory, Division of Psychiatry, University College London, Rockefeller Building, 21 University Street, London, WC1E 6JJ, UK.
Mazen DaherMolecular Psychiatry Laboratory, Division of Psychiatry, University College London, Rockefeller Building, 21 University Street, London, WC1E 6JJ, UK.
Adebayo AnjorinMolecular Psychiatry Laboratory, Division of Psychiatry, University College London, Rockefeller Building, 21 University Street, London, WC1E 6JJ, UK.
Nicholas James BassMolecular Psychiatry Laboratory, Division of Psychiatry, University College London, Rockefeller Building, 21 University Street, London, WC1E 6JJ, UK.
Andrew McQuillinMolecular Psychiatry Laboratory, Division of Psychiatry, University College London, Rockefeller Building, 21 University Street, London, WC1E 6JJ, UK.
University College London · GB

Funding

Medical Research Council G0500791Medical Research Council G0701007Medical Research Council G0801038Medical Research Council G1000708Medical Research Council G9623693N
6 · The paper itself

Abstract

backgroundBipolar affective disorder (BPD) is a severe mood disorder with a prevalence of ∼1.5% in the population. The pathogenesis of BPD is poorly understood; however, a strong heritable component has been identified. Previous genome-wide association studies have indicated a region on 6q25, coding for the SYNE1 gene, which increases disease susceptibility. SYNE1 encodes the synaptic nuclear envelope protein-1, nesprin-1. A brain-specific splice variant of SYNE1, CPG2 encoding candidate plasticity gene 2, has been identified. The intronic single-nucleotide polymorphism with the strongest genome-wide significant association in BPD, rs9371601, is present in both SYNE1 and CPG2.

methodsWe screened 937 BPD samples for genetic variation in SYNE1 exons 14-33, which covers the CPG2 region, using high-resolution melt analysis. In addition, we screened two regions of increased transcriptional activity, one of them proposed to be the CPG2 promoter region. RESULTS AND

conclusionWe identified six nonsynonymous and six synonymous variants. We genotyped three rare nonsynonymous variants, rs374866393, rs148346599 and rs200629713, in a total of 1099 BPD samples and 1056 controls. Burden analysis of these rare variants did not show a significant association with BPD. However, nine patients are compound heterozygotes for variants in SYNE1/CPG2, suggesting that rare coding variants may contribute significantly towards the complex genetic architecture underlying BPD. Imputation analysis in our own whole-genome sequencing sample of 99 BPD individuals identified an additional eight risk variants in the CPG2 region of SYNE1.

Indexed as

Bipolar DisorderCase-Control StudiesCohort StudiesCytoskeletal ProteinsExonsFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHumansMaleNerve Tissue ProteinsNuclear ProteinsPolymorphism, Single NucleotideCytoskeletal ProteinsNerve Tissue ProteinsNuclear ProteinsProtein IsoformsSYNE1 protein, human

Identifiers

PMID28178086
PMCPMC5407451
OpenAlexW2587127575

What Socratic holds

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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 Socratic graph.