Evidence map›Paper›PMID 39336788›Full record

ArticleGenes2024

Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS Cohort.

Ivan Tourtourikov, Tihomir Todorov, Teodor Angelov, Teodora Chamova, Ivailo Tournev, Vanyo Mitev, Albena Todorova

Abstract read
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Ivan TourtourikovDepartment of Medical Chemistry and Biochemistry, Medical University of Sofia, 1431 Sofia, Bulgaria.ORCID 0000-0003-3094-8030
Tihomir TodorovGenetic Medico Diagnostic Laboratory Genica, 1612 Sofia, Bulgaria.
Teodor AngelovDepartment of Neurology, Faculty of Medicine, Medical University of Sofia, 1431 Sofia, Bulgaria.
Teodora ChamovaDepartment of Neurology, Faculty of Medicine, Medical University of Sofia, 1431 Sofia, Bulgaria.ORCID 0000-0001-5142-5007
Ivailo TournevDepartment of Neurology, Clinic of Nervous Diseases, Medical University of Sofia, UMBAL Aleksandrovska, 1431 Sofia, Bulgaria.
Vanyo MitevDepartment of Medical Chemistry and Biochemistry, Medical University of Sofia, 1431 Sofia, Bulgaria.ORCID 0000-0001-7528-590X
Albena TodorovaDepartment of Medical Chemistry and Biochemistry, Medical University of Sofia, 1431 Sofia, Bulgaria.

Funding

European Union-NextGenerationEU National Recovery and Resilience Plan of the Republic of Bulgaria, project № BG-RRP-2.004-0004-C01Medical University of Sofia Grant No. D-148/ 03.08.2023
6 · The paper itself

Abstract

This study investigated the role of the CHGB P413L variant (rs742710) in sporadic amyotrophic lateral sclerosis (sALS) within the Bulgarian population. We analyzed 150 patients with sALS (85 male and 65 female) for the presence of this variant, its potential impact on disease susceptibility, and age of onset. Genotyping was performed using PCR amplification and direct Sanger sequencing. Statistical analyses included comparisons with control data from GnomAD v2.1.1, one-way ANOVA, and Kaplan-Meier survival analysis. Results revealed a higher frequency of the minor T allele in patients with sALS compared to all control groups and a statistically significant increase in carrier genotypes compared to non-Finnish Europeans (χ

Indexed as

Amyotrophic Lateral SclerosisChromogranin BGenetic Predisposition to DiseaseAdultAgedAge of OnsetAllelesBulgariaCohort StudiesFemaleGene FrequencyGenotypeHumansKaplan-Meier EstimateMaleMiddle AgedChromogranin BALSCHGBP413L

Identifiers

PMID39336788
PMCPMC11431727

What OpenQuestion 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 OpenQuestion graph.