Evidence map›Paper›PMID 29294133›Full record

ArticleSchizophrenia bulletin2018

Genetic Correlation Profile of Schizophrenia Mirrors Epidemiological Results and Suggests Link Between Polygenic and Rare Variant (22q11.2) Cases of Schizophrenia.

Laramie E Duncan, Hanyang Shen, Jacob S Ballon, Kate V Hardy, Douglas L Noordsy, Douglas F Levinson

Open access · bronzeAbstract read
In one paragraph

Article in Schizophrenia bulletin, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 3 pooled it
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

20 citing papers in PubMed, 3 syntheses or guidelines pooled it, 40 citations in OpenAlex.

  1. Pooled it
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  10. Polygenic risk scores enhance prediction of body mass index increase in individuals with a first episode of psychosis.European psychiatry : the journal of the Association of European Psychiatrists · 2023
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  20. Increasing expectations and knowledge require a more subtle use of prophylactic antipsychotics.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2018
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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

6 authors at 1 institution in 1 country.

Laramie E DuncanDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA.
Hanyang ShenDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA.
Jacob S BallonDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA.
Kate V HardyDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA.
Douglas L NoordsyDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA.
Douglas F LevinsonDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA.
Stanford University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

New methods in genetics research, such as linkage disequilibrium score regression (LDSR), quantify overlap in the common genetic variants that influence diverse phenotypes. It is becoming clear that genetic effects often cut across traditional diagnostic boundaries. Here, we introduce genetic correlation analysis (using LDSR) to a nongeneticist audience and report transdisciplinary discoveries about schizophrenia. This analytical study design used publically available genome wide association study (GWAS) data from approximately 1.5 million individuals. Genetic correlations between schizophrenia and 172 medical, psychiatric, personality, and metabolomic phenotypes were calculated using LDSR, as implemented in LDHub in order to identify known and new genetic correlations. Consistent with previous research, the strongest genetic correlation was with bipolar disorder. Positive genetic correlations were also found between schizophrenia and all other psychiatric phenotypes tested, the personality traits of neuroticism and openness to experience, and cigarette smoking. Novel results were found with medical phenotypes: schizophrenia was negatively genetically correlated with serum citrate, positively correlated with inflammatory bowel disease, and negatively correlated with BMI, hip, and waist circumference. The serum citrate finding provides a potential link between rare cases of schizophrenia (strongly influenced by 22q11.2 deletions) and more typical cases of schizophrenia (with polygenic influences). Overall, these genetic correlation findings match epidemiological findings, suggesting that common variant genetic effects are part of the scaffolding underlying phenotypic comorbidity. The "genetic correlation profile" is a succinct report of shared genetic effects, is easily updated with new information (eg, from future GWAS), and should become part of basic disease knowledge about schizophrenia.

Indexed as

Genome-Wide Association Study22q11 Deletion SyndromeBipolar DisorderCigarette SmokingCitric AcidHumansInflammatory Bowel DiseasesLinkage DisequilibriumMultifactorial InheritancePersonalitySchizophreniaCitric Acid

Identifiers

PMID29294133
PMCPMC6192473
OpenAlexW2777594283

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.