Evidence map›Paper›PMID 32804129›Full record

ArticleJournal of Alzheimer's disease : JAD2020

Allelic Distribution of Genes for Apolipoprotein E and MTHFR in Patients with Alzheimer's Disease and Their Epistatic Interaction.

Stanislav Sutovsky, Robert Petrovic, Maria Fischerova, Viera Haverlikova, Barbara Ukropcova, Jozef Ukropec, Peter Turcani

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of Alzheimer's disease : JAD, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 28% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Review
  5. Genetic effect ofAging · 2021
    Observational
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 at 3 institutions in 1 country.

Stanislav Sutovsky1st Department of Neurology, Faculty of Medicine, Comenius University and University Hospital, Bratislava, Slovakia.
Robert PetrovicDepartment of Genetics and Clinical Genetics, Institute of Medical Biology, Faculty of Medicine, Comenius University and University Hospital, Bratislava, Slovakia.
Maria FischerovaDepartment of Genetics and Clinical Genetics, Institute of Medical Biology, Faculty of Medicine, Comenius University and University Hospital, Bratislava, Slovakia.
Viera HaverlikovaDepartment of Didactics in Mathematics, Physics and Informatics, Faculty of Mathematics, Physics and Informatics, Comenius University, Bratislava, Slovakia.
Barbara UkropcovaBiomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
Jozef UkropecBiomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
Peter Turcani1st Department of Neurology, Faculty of Medicine, Comenius University and University Hospital, Bratislava, Slovakia.
University Hospital Bratislava · SKBiomedical Research Center of the Slovak Academy of Sciences · SKComenius University Bratislava · SK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic risk factors play an important role in the pathogenesis of Alzheimer's disease (AD). However, the gene-gene interaction (epistasis) between specific allelic variants is only partially understood.

objectiveIn our study, we examined the presence of the ɛ4 allele of apolipoprotein E (APOE) and the presence of C677T and A1298C (rs1801133 and rs1801131) polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with AD and controls. We also evaluated the epistatic interaction between MTHFR and the APOE variants.

methodsA total of 564 patients with AD and 534 cognitively unimpaired age-matched controls were involved in the study.

resultsThe presence of the ɛ4 allele of APOE increases the risk of developing AD in a dose-dependent manner (OR 32.7: homozygotes, 15.6: homozygotes + heterozygotes, 14.3: heterozygotes). The combination of genotypes also increases the risk of developing AD in a dose-dependent manner: OR 18.3 (APOE 4/X and 4/4 + CT rs1801133), OR 19.4 (APOE 4/X and 4/4 + CT rs1801133 + AC rs1801131), OR 22.4 (APOE 4/X and 4/4 + TT rs1801133), and OR 21.2 (APOE 4/X and 4/4 + CC rs1801131). Homozygotes for variant alleles of MTHFR as well as patients with AD had significantly higher levels of homocysteine than homozygotes for standard alleles or controls.

conclusionHomozygotes for APOE4 and carriers of APOE4 with TT genotype of rs1801133 were found to be at the highest risk of developing AD. These findings suggest that the epistatic interaction of specific gene variants can have a significant effect on the development of AD.

Indexed as

AllelesAgedAged, 80 and overAlzheimer DiseaseApolipoprotein E4Epistasis, GeneticFemaleHumansMaleMethylenetetrahydrofolate Reductase (NADPH2)Apolipoprotein E4Methylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, humanAlzheimer’s diseaseapolipoprotein EepistasisMTHFR

Identifiers

PMID32804129
PMCPMC7683064
OpenAlexW3049380771

What OpenQuestion holds

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LicenceCC BY-NC
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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.