Evidence map›Paper›PMID 37804111›Full record

ArticleBrain : a journal of neurology2024

Machine learning nominates the inositol pathway and novel genes in Parkinson's disease.

Eric Yu, Roxanne Larivière, Rhalena A Thomas, Lang Liu, Konstantin Senkevich, Shady Rahayel, Jean-François Trempe, Edward A Fon, Ziv Gan-Or

Open access · hybridAbstract read
In one paragraph

Article in Brain : a journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
3.6field-weighted citation impact, top 6% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.

  1. Pooled it
  2. Eating Disorders and Parkinson's Disease-2: Genetic Epidemiology and Shared Genomics.European eating disorders review : the journal of the Eating Disorders Association · 2026
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 1 country.

Eric YuDepartment of Human Genetics, McGill University, Montreal, Quebec H3A 0G4, Canada.
Roxanne LarivièreDepartment of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 0G4, Canada.
Rhalena A ThomasDepartment of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 0G4, Canada.
Lang LiuDepartment of Human Genetics, McGill University, Montreal, Quebec H3A 0G4, Canada.
Konstantin SenkevichThe Neuro (Montreal Neurological Institute-Hospital), Montreal, Quebec H3A 2B4, Canada.
Shady RahayelCentre for Advanced Research in Sleep Medicine, Hôpital du Sacré-Cœur de Montréal, Montreal, Quebec H4J 1C5, Canada.ORCID 0000-0001-5786-3278
Jean-François TrempeDepartment of Pharmacology and Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montreal, Quebec H3A 0G4, Canada.
Edward A FonDepartment of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 0G4, Canada.ORCID 0000-0002-5520-6239
Ziv Gan-OrDepartment of Human Genetics, McGill University, Montreal, Quebec H3A 0G4, Canada.ORCID 0000-0003-0332-234X
Montreal Neurological Institute and Hospital · CAMcGill University · CAHôpital du Sacré-Cœur de Montréal · CA

Funding

CIHR #476751
6 · The paper itself

Abstract

There are 78 loci associated with Parkinson's disease in the most recent genome-wide association study (GWAS), yet the specific genes driving these associations are mostly unknown. Herein, we aimed to nominate the top candidate gene from each Parkinson's disease locus and identify variants and pathways potentially involved in Parkinson's disease. We trained a machine learning model to predict Parkinson's disease-associated genes from GWAS loci using genomic, transcriptomic and epigenomic data from brain tissues and dopaminergic neurons. We nominated candidate genes in each locus and identified novel pathways potentially involved in Parkinson's disease, such as the inositol phosphate biosynthetic pathway (INPP5F, IP6K2, ITPKB and PPIP5K2). Specific common coding variants in SPNS1 and MLX may be involved in Parkinson's disease, and burden tests of rare variants further support that CNIP3, LSM7, NUCKS1 and the polyol/inositol phosphate biosynthetic pathway are associated with the disease. Functional studies are needed to further analyse the involvements of these genes and pathways in Parkinson's disease.

Indexed as

Genome-Wide Association StudyParkinson DiseaseDopaminergic NeuronsHumansInositol PhosphatesMachine LearningPhosphotransferases (Phosphate Group Acceptor)Inositol PhosphatesPhosphotransferases (Phosphate Group Acceptor)PPIP5K2 protein, humangene prioritizationGWASmachine learningParkinson’s disease

Identifiers

PMID37804111
PMCPMC10907089
OpenAlexW4387420637

What Socratic 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 Socratic graph.