Evidence map›Paper›PMID 40019135›Full record

ArticleMovement disorders clinical practice2025

Polygenic Risk Score Combined with Transcranial Sonography Refines Parkinson's Disease Risk Prediction.

Mart Kals, Anu Reigo, Maris Teder-Laving, Mariliis Vaht, Estonian Biobank research team, Tiit Nikopensius, Andres Metspalu, Toomas Toomsoo

Abstract read
In one paragraph

Article in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

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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

8 authors.

Mart KalsEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID https://orcid.org/0000-0003-2090-8780
Anu ReigoEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Maris Teder-LavingEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Mariliis VahtEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Estonian Biobank research team
Tiit NikopensiusEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Andres MetspaluEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Toomas ToomsooConfido Medical Centre, Tallinn, Estonia.

Funding

European Regional Development Fund 2014-2020.4.01.15-0012 GENTRANSMEDMinistry of Education and Research TK214Tallinn University TF3720
6 · The paper itself

Abstract

backgroundDopaminergic neuron depletion in the substantia nigra (SN) and the pathological aggregation of α-synuclein are the neuropathological hallmarks of Parkinson's disease (PD).

objectivesThis study aimed to investigate the association between the polygenic risk score for PD (PD-PRS) and transcranial sonography (TCS)-measured SN hyperechogenicity to enhance the accuracy of PD susceptibility prediction.

methodsPD-PRSs were calculated for over 41,000 Estonian Biobank participants age 55+ years without a PD diagnosis. Participants in the highest and lowest PD-PRS percentiles (n = 222) underwent TCS measurements and Sniffin' sticks olfactory testing. A multivariable logistic regression model was used to examine the associations between PD-PRS, risk and prodromal markers, and SN hyperechogenicity.

resultsData from 204 participants with TCS measurements were analyzed, including 107 individuals in the high-risk PD-PRS group and 97 in the low-risk PD-PRS group. Incorporating PD-PRS group assignment improved the explained variance in SN hyperechogenicity from 17.2% to 31.9%. Participants in the low-risk PD-PRS group had 0.16 times lower odds (95% confidence interval (CI) = 0.07-0.35, P < 0.001) of developing SN hyperechogenicity compared to high-risk PD-PRS individuals. Each unit increase in the Sniffin' sticks olfactory test score was significantly associated with reduced odds of SN hyperechogenicity (adjusted odds ratio = 0.60, 95% CI = 0.47-0.78, P = 0.002).

conclusionsOur findings indicate that TCS-measured SN hyperechogenicity is associated with PD-PRS and olfactory impairment. This combined assessment may improve early diagnosis of prodromal PD by pinpointing individuals at increased risk.

Indexed as

Multifactorial InheritanceParkinson DiseaseSubstantia NigraUltrasonography, Doppler, TranscranialAgedFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreHumansMaleMiddle AgedRisk FactorsParkinson's diseasepolygenic risk scoresubstantia nigra hyperechogenicitytranscranial sonography

Identifiers

PMID40019135
PMCPMC12274997

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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 OpenQuestion graph.