Evidence map›Paper›PMID 26317759›Full record

ArticlePloS one2015

Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population.

Piotr Janik, Mariusz Berdyński, Krzysztof Safranow, Cezary Żekanowski

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
3.0field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

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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

12 citing papers in PubMed, 25 citations in OpenAlex.

  1. Peripheral Expression ofPsychiatry and clinical psychopharmacology · 2023
    Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. Adenosine AFrontiers in neuroscience · 2021
    Review
  7. Analysis of association of ADORAThe pharmacogenomics journal · 2020
    Article
  8. Review
  9. Association of a Variant ofFrontiers in genetics · 2020
    Article
  10. Purinergic system in psychiatric diseases.Molecular psychiatry · 2018
    Review
  11. Review
  12. Review
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 3 institutions in 1 country.

Piotr JanikDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland.
Mariusz BerdyńskiDepartment of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Krzysztof SafranowDepartment of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland.
Cezary ŻekanowskiDepartment of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Polish Academy of Sciences · PLMedical University of Warsaw · PLPomeranian Medical University · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and vocal tics. Hyperactivity of dopaminergic transmission is considered a prime abnormality in the pathophysiology of tics. There are reciprocal antagonistic interactions between adenosine and dopamine transmission. The aim of the study was to analyze the association of two polymorphisms, rs2228079 in ADORA1 and rs5751876 in ADORA2A, with the risk of GTS and co-morbid disorders. MATERIAL AND

methodsA total of 162 Polish GTS patients and 270 healthy persons were enrolled in the study. Two polymorphisms were selected on the basis of knowledge of SNPs frequencies in ADORA1 and ADORA2A. Chi-square test was used for allelic and genotypic association studies. Association of genotypes with age of tic onset was analyzed with Mann-Whitney test. Multivariate logistic regression was used to find independent predictors of GTS risk.

resultsWe found that the risk of GTS was associated with rs2228079 and rs5751876 polymorphisms. The GG+GT genotypes of rs2228079 in ADORA1 were underrepresented in GTS patients (p = 0.011), whereas T allele of rs5751876 in ADORA2A was overrepresented (p = 0.017). The GG genotype of rs2228079 was associated with earlier age of tic onset (p = 0.046). We found also that the minor allele G of rs2228079 was more frequent in GTS patients with depression as compared to the patients without depression (p = 0.015). Also the genotype GG was significantly more frequent in patients with obsessive compulsive disorder/behavior (OCD/OCB, p = 0.021) and depression (p = 0.032), as compared to the patients without these co-morbidities. The minor allele T frequency of rs5751876 was lower in GTS patients with co-morbid attention deficit hyperactivity disorder (p = 0.022), and TT+TC genotypes were less frequent in the non-OCD anxiety disorder group (p = 0.045).

conclusionADORA1 and ADORA2A variants are associated with the risk of GTS, co-morbid disorders, and may affect the age of tic onset.

Indexed as

Polymorphism, Single NucleotideAdolescentAdultAge of OnsetChildChild, PreschoolFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMiddle AgedPolandReceptor, Adenosine A1Receptor, Adenosine A2AReceptors, Purinergic P1purinoceptor RDC7purinoceptor RDC8Receptor, Adenosine A1Receptor, Adenosine A2AReceptors, Purinergic P1

Identifiers

PMID26317759
PMCPMC4552818
OpenAlexW1914331669

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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.