Evidence map›Paper›PMID 38801282›Full record

ReviewLa Tunisie medicale2024

Nessrine Mezzi, Najla Abassi, Faten Fatnassi, Sonia Abdelhak, Lilia Romdhane

Abstract readReviewEnglish Abstract
In one paragraph

Review in La Tunisie medicale, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

5 authors.

Nessrine MezziBiomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Tunisia.
Najla AbassiBiomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Tunisia.
Faten FatnassiBiomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Tunisia.
Sonia AbdelhakBiomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Tunisia.
Lilia RomdhaneBiomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Tunisia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genetic disease spectrum in Tunisia arises from the founder effect, genetic drift, selection, and consanguinity. The latter represents a deviation from panmixia, characterized by a non-random matrimonial choice that may be subject to several rules, such as socio-cultural, economic, or other factors. This shifts the genetic structure away from the Hardy-Weinberg equilibrium, increasing homozygous genotypes and decreasing heterozygotes, thus raising the frequency of autosomal recessive diseases. Similar to other Arab populations, Tunisia displays high consanguinity rates that vary geographically. Approximately 60% of reported diseases in Tunisia are autosomal recessive, with consanguinity possibly occurring in 80% of families for a specific disease. In inbred populations, consanguinity amplifies autosomal recessive disease risk, yet it does not influence autosomal dominant disease likelihood but rather impacts its phenotype. Consanguinity is also suggested to be a major factor in the homozygosity of deleterious variants leading to comorbid expression. At the genome level, inbred individuals inherit homozygous mutations and adjacent genomic regions known as runs of homozygosity (ROHs). Short ROHs indicate distant inbreeding, while long ROHs refer to recent inbreeding. ROHs are distributed rather irregularly across the genome, with certain short regions featuring an excess of ROH, known as ROH islands. In this review, we discuss consanguinity's impact on population health and genome dynamics, using Tunisia as a model.

Indexed as

ConsanguinityFounder EffectGenetic Diseases, InbornGenome, HumanHomozygoteHumansTunisiaConsanguinityEndogamyGenetic diseasesGenome structureHealthRuns of homozygosityTunisia

Identifiers

PMID38801282
PMCPMC11358831

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.