Evidence map›Paper›PMID 32337343›Full record

ArticleNeurology. Genetics2020

Polygenic risk scores of several subtypes of epilepsies in a founder population.

Claudia Moreau, Rose-Marie Rébillard, Stefan Wolking, Jacques Michaud, Frédérique Tremblay, Alexandre Girard, Joanie Bouchard, Berge Minassian, Catherine Laprise, Patrick Cossette and 1 more

Abstract read
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In one paragraph

Article in Neurology. Genetics, 2020. 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
–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

12 citing papers in PubMed.

  1. Article
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  8. Polygenic risk scores in epilepsy.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022
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  9. Review
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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

11 authors.

Claudia MoreauCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.
Rose-Marie RébillardCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.ORCID 0000-0001-7355-7713
Stefan WolkingCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.ORCID 0000-0002-1460-6623
Jacques MichaudCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.
Frédérique TremblayCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.
Alexandre GirardCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.
Joanie BouchardCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.
Berge MinassianCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.
Catherine LapriseCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.
Patrick CossetteCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.
Simon L GirardCentre Intersectoriel en Santé Durable (C.M., F.T., A.G., J.B., C.L., S.L.G.), Université du Québec à Chicoutimi, Saguenay; Axe Neurosciences (R.-M.R., S.W., P.C.), Centre de recherche de l'Université de Montréal, Université de Montréal; Centre de recherche du CHU Ste-Justine (J.M.), Université de Montréal, Canada; and Department of Pediatrics and Neurology and Neurotherapeutics (B.M.), UT Southwestern Medical Center, TX.ORCID 0000-0002-4089-2280

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivePolygenic risk scores (PRSs) are used to quantify the cumulative effects of a number of genetic variants, which may individually have a very small effect on susceptibility to a disease; we used PRSs to better understand the genetic contribution to common epilepsy and its subtypes.

methodsWe first replicated previous single associations using 373 unrelated patients. We then calculated PRSs in the same French Canadian patients with epilepsy divided into 7 epilepsy subtypes and population-based controls. We fitted a logistic mixed model to calculate the variance explained by the PRS using pseudo-R

resultsWe show that the PRS explains more of the variance in idiopathic generalized epilepsy than in patients with nonacquired focal epilepsy. We also demonstrate that the variance explained is different within each epilepsy subtype.

conclusionsGlobally, we support the notion that PRSs provide a reliable measure to rightfully estimate the contribution of genetic factors to the pathophysiologic mechanism of epilepsies, but further studies are needed on PRSs before they can be used clinically.

Identifiers

PMID32337343
PMCPMC7164970

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