Evidence map›Paper›PMID 24946689›Full record

ArticleArthritis research & therapy2014

Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus.

Elisa Alonso-Perez, Marian Suarez-Gestal, Manuel Calaza, Francisco J Blanco, Ana Suarez, Maria Jose Santos, Chryssa Papasteriades, Patricia Carreira, Rudolf Pullmann, Josep Ordi-Ros and 13 more

Open access · goldAbstract readMulticenter Study
In one paragraph

Article in Arthritis research & therapy, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 20% 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

6 citing papers in PubMed, 14 citations in OpenAlex.

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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

23 authors at 16 institutions in 10 countries.

Elisa Alonso-Perez
Marian Suarez-Gestal
Manuel Calaza
Francisco J Blanco
Ana Suarez
Maria Jose Santos
Chryssa Papasteriades
Patricia Carreira
Rudolf Pullmann
Josep Ordi-Ros
Maurizio Marchini
Fotini N Skopouli
Marc Bijl
Nadia Barrizone
Gian Domenico Sebastiani
Sergio Migliaresi
Torsten Witte
Bernard R Lauwerys
Attila Kovacs
Sarka Ruzickova
Juan J Gomez-Reino
Antonio Gonzalez
European Consortium of SLE DNA Collections
Instituto de Investigación Sanitaria de Santiago · ESAthens Euroclinic · GRCarlo Forlanini Hospital · ITCliniques Universitaires Saint-Luc · BECzech Academy of Sciences · CZEvangelismos Hospital · GRHospital Garcia de Orta · PTHungarian Central Statistical Office · HUInstituto de Investigación Biomédica de A Coruña · ESMartini Ziekenhuis · NLMedizinische Hochschule Hannover · DEUniversidad de Oviedo · ESUniversità degli Studi del Piemonte Orientale “Amedeo Avogadro” · ITUniversity of Milan · ITUniversity of Naples Federico II · ITVall d'Hebron Hospital Universitari · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionWe aimed to replicate a recent study which showed higher genetic risk load at 15 loci in men than in women with systemic lupus erythematosus (SLE). This difference was very significant, and it was interpreted as indicating that men require more genetic susceptibility than women to develop SLE.

methodsNineteen SLE-associated loci (thirteen of which are shared with the previous study) were analyzed in 1,457 SLE patients and 1,728 healthy controls of European ancestry. Genetic risk load was calculated as sex-specific sum genetic risk scores (GRS(s)).

resultsOur results did not replicate those of the previous study at either the level of individual loci or the global level of GRS(s). GRS(s) were larger in women than in men (4.20 ± 1.07 in women vs. 3.27 ± 0.98 in men). This very significant difference (P < 10(-16)) was more dependent on the six new loci not included in the previous study (59% of the difference) than on the thirteen loci that are shared (the remaining 41%). However, the 13 shared loci also showed a higher genetic risk load in women than in men in our study (P = 6.6 × 10(-7)), suggesting that heterogeneity of participants, in addition to different loci, contributed to the opposite results.

conclusionOur results show the lack of a clear trend toward higher genetic risk in one of the sexes for the analyzed SLE loci. They also highlight several limitations of assessments of genetic risk load, including the possibility of ascertainment bias with loci discovered in studies that have included mainly women.

Indexed as

Genetic LoadPolymorphism, Single NucleotideAllelesCase-Control StudiesEuropeFemaleGene FrequencyGenetic Predisposition to DiseaseHumansLupus Erythematosus, SystemicMaleOdds RatioRisk AssessmentRisk FactorsSex FactorsWhite People

Identifiers

PMID24946689
PMCPMC4095681
OpenAlexW2146579585

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.