Evidence map›Paper›PMID 32413284›Full record

ArticleAmerican journal of human genetics2020

Characterizing the Causal Pathway for Genetic Variants Associated with Neurological Phenotypes Using Human Brain-Derived Proteome Data.

Nelson K Kibinge, Caroline L Relton, Tom R Gaunt, Tom G Richardson

Open access · hybridAbstract read
In one paragraph

Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 2 pooled it
9.5field-weighted citation impact, top 2% 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

50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 75 citations in OpenAlex.

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  10. Cathepsins in Neurological Diseases.International journal of molecular sciences · 2025
    Review
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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

4 authors at 2 institutions in 1 country.

Nelson K KibingeMedical Research Council (MRC) Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
Caroline L ReltonMedical Research Council (MRC) Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
Tom R GauntMedical Research Council (MRC) Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
Tom G RichardsonMedical Research Council (MRC) Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom. Electronic address: Tom.G.Richardson@bristol.ac.uk.
Medical Research Council · GBUniversity of Bristol · GB

Funding

Medical Research Council MC_UU_00011/4Medical Research Council MC_UU_00011/5Medical Research Council MC_UU_12013/2Medical Research Council MR/S003886/1
6 · The paper itself

Abstract

Leveraging high-dimensional molecular datasets can help us develop mechanistic insight into associations between genetic variants and complex traits. In this study, we integrated human proteome data derived from brain tissue to evaluate whether targeted proteins putatively mediate the effects of genetic variants on seven neurological phenotypes (Alzheimer disease, amyotrophic lateral sclerosis, depression, insomnia, intelligence, neuroticism, and schizophrenia). Applying the principles of Mendelian randomization (MR) systematically across the genome highlighted 43 effects between genetically predicted proteins derived from the dorsolateral prefrontal cortex and these outcomes. Furthermore, genetic colocalization provided evidence that the same causal variant at 12 of these loci was responsible for variation in both protein and neurological phenotype. This included genes such as DCC, which encodes the netrin-1 receptor and has an important role in the development of the nervous system (p = 4.29 × 10

Indexed as

PhenomicsProteomicsAlzheimer DiseaseAmyotrophic Lateral SclerosisArmadillo Domain ProteinsBrainCarrier ProteinsCathepsin HCytoskeletal ProteinsDepressionGenetic VariationGenome-Wide Association StudyHumansIntelligenceNervous System DiseasesNeuroticismArmadillo Domain ProteinsCarrier ProteinsCathepsin HCTSH protein, humanCytoskeletal ProteinsDSCC1 protein, humanNuclear ProteinsProteomeSARM1 protein, humanSNX33 protein, humanSorting Nexinsbrain-derived proteinscognitivegenetic colocalizationMendelian randomizationneurologicalphenome-wide association studyprotein quantitative trait locipsychaitric

Identifiers

PMID32413284
PMCPMC7273531
OpenAlexW3014555327

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.