Evidence map›Paper›PMID 38192426›Full record

ArticleFrontiers in endocrinology2023

The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes.

Hamza Dallali, Wided Boukhalfa, Nadia Kheriji, Meriem Fassatoui, Haifa Jmel, Meriem Hechmi, Ismail Gouiza, Mariem Gharbi, Wafa Kammoun, Mehdi Mrad and 8 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 19% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
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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

18 authors at 5 institutions in 2 countries.

Hamza DallaliGenetic typing service, Institut Pasteur of Tunis, Tunis, Tunisia.
Wided BoukhalfaLaboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, Tunis, Tunisia.
Nadia KherijiLaboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, Tunis, Tunisia.
Meriem FassatouiLaboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, Tunis, Tunisia.
Haifa JmelGenetic typing service, Institut Pasteur of Tunis, Tunis, Tunisia.
Meriem HechmiLaboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, Tunis, Tunisia.
Ismail GouizaLaboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, Tunis, Tunisia.
Mariem GharbiLaboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, Tunis, Tunisia.
Wafa KammounLaboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, Tunis, Tunisia.
Mehdi MradLaboratory of Clinical Biochemistry and Hormonology, Institut Pasteur of Tunis, Tunis, Tunisia.
Marouen TaouebLaboratory of Clinical Biochemistry and Hormonology, Institut Pasteur of Tunis, Tunis, Tunisia.
Asma KrirLaboratory of Clinical Biochemistry and Hormonology, Institut Pasteur of Tunis, Tunis, Tunisia.
Hajer TrabelsiLaboratory of Clinical Biochemistry and Hormonology, Institut Pasteur of Tunis, Tunis, Tunisia.
Afef BahlousLaboratory of Clinical Biochemistry and Hormonology, Institut Pasteur of Tunis, Tunis, Tunisia.
Henda JamoussiResearch Unit on Obesity, Faculty of Medicine of Tunis, Tunis, Tunisia.
Olfa MessaoudLaboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, Tunis, Tunisia.
Abdelmajid AbidLaboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, Tunis, Tunisia.
Rym KefiGenetic typing service, Institut Pasteur of Tunis, Tunis, Tunisia.
Institut Pasteur de Tunis · TNTunis El Manar University · TNTunis University · TNFaculté de médecine de TunisTunisia Private University · TN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Type 2 diabetes (T2D) is a multifactorial disease involving genetic and environmental components. Several genome-wide association studies (GWAS) have been conducted to decipher potential genetic aberrations promoting the onset of this metabolic disorder. These GWAS have identified over 400 associated variants, mostly in the intronic or intergenic regions. Recently, a growing number of exome genotyping or exome sequencing experiments have identified coding variants associated with T2D. Such studies were mainly conducted in European populations, and the few candidate-gene replication studies in North African populations revealed inconsistent results. In the present study, we aimed to discover the coding genetic etiology of T2D in the Tunisian population. Methods: We carried out a pilot Exome Wide Association Study (EWAS) on 50 Tunisian individuals. Single variant analysis was performed as implemented in PLINK on potentially deleterious coding variants. Subsequently, we applied gene-based and gene-set analyses using MAGMA software to identify genes and pathways associated with T2D. Potential signals were further replicated in an existing large in-silico dataset, involving up to 177116 European individuals. Results: Our analysis revealed, for the first time, promising associations between T2D and variations in Conclusions: The present study is the first EWAS to investigate the impact of single genetic variants and their aggregate effects on T2D risk in Africa. The promising disease markers, revealed by our pilot EWAS, will promote the understanding of the T2D pathophysiology in North Africa as well as the discovery of potential treatments.

Indexed as

Diabetes Mellitus, Type 2ExomeGenome-Wide Association StudyHumansIntronsTunisiaexome wide association studygene-based analysispathway-based analysisTunisian populationtype 2 diabetes

Identifiers

PMID38192426
PMCPMC10773763
OpenAlexW4389939327

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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.