ArticleGenes and immunity2009
A population genetics study of the familial Mediterranean fever gene: evidence of balancing selection under an overdominance regime.
Article in Genes and immunity, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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.
Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Trial
- Bw4 ligand and direct T-cell receptor binding induced selection on HLA A and B alleles.Frontiers in immunology · 2023Article
- IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.Nature reviews. Rheumatology · 2022Review
- Familial Mediterranean Fever and COVID-19: Friends or Foes?Frontiers in immunology · 2020Review
- Inflammasome-Dependent Cytokines at the Crossroads of Health and Autoinflammatory Disease.Cold Spring Harbor perspectives in biology · 2019Review
- Update on Pyrin Functions and Mechanisms of Familial Mediterranean Fever.Frontiers in microbiology · 2016Review
- Genetic variation in TLR genes in Ugandan and South African populations and comparison with HapMap data.PloS one · 2012Article
- A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.Human genetics · 2011Article
- Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution.PLoS genetics · 2011Article
- Genetic adaptation of the antibacterial human innate immunity network.BMC evolutionary biology · 2011Article
- The emergence of human-evolutionary medical genomics.Evolutionary applications · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Mediterranean Fever (FMF) is a recessively inherited systemic autoinflammatory disease caused by mutations in the MEFV gene. The frequency of different disease alleles is extremely high in multiple populations from the Mediterranean region, suggesting heterozygote advantage. Here, we characterize the sequence variation and haplotype structure of the MEFV 3' gene region (from exon 5 to the 3' UTR) in seven human populations. In non-African populations, we observed high levels of nucleotide variation, an excess of intermediate-frequency alleles, reduced population differentiation and a genealogy with two common haplotypes separated by deep branches. These features are suggestive of balancing selection having acted on this region to maintain one or more selected alleles. In line with this finding, an excess of heterozygotes was observed in Europeans and Asians, suggesting an overdominance regime. Our data, together with the earlier demonstration that the MEFV exon 10 has been subjected to episodic positive selection over primate evolution, provide evidence for an adaptive role of nucleotide variation in this gene region. Our data suggest that further studies aimed at clarifying the role of MEFV variants might benefit from the integration of molecular evolutionary and functional analyses.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.