Evidence map›Paper›PMID 21296743›Full record

ReviewHuman genomics2011

Exploring the potential relevance of human-specific genes to complex disease.

David N Cooper, Hildegard Kehrer-Sawatzki

Abstract readReview
In one paragraph

Review in Human genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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

20 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Mice engrafted with human hematopoietic stem cells support a human myeloid cell inflammatory response in vivo.Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair Society · 2016
    Article
  7. Article
  8. Injury, inflammation and the emergence of human-specific genes.Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair Society · 2016
    Article
  9. Article
  10. CHRFAM7A: a human-specific α7-nicotinic acetylcholine receptor gene shows differential responsiveness of human intestinal epithelial cells to LPS.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2015
    Article
  11. Article
  12. Review
  13. Article
  14. Review
  15. Article
  16. Disease consequences of human adaptation.Applied & translational genomics · 2013
    Review
  17. Article
  18. Review
  19. Article
  20. 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

2 authors.

David N CooperInstitute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK. cooperDN@cardiff.ac.uk
Hildegard Kehrer-Sawatzki

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Although human disease genes generally tend to be evolutionarily more ancient than non-disease genes, complex disease genes appear to be represented more frequently than Mendelian disease genes among genes of more recent evolutionary origin. It is therefore proposed that the analysis of human-specific genes might provide new insights into the genetics of complex disease. Cross-comparison with the Human Gene Mutation Database (http://www.hgmd.org) revealed a number of examples of disease-causing and disease-associated mutations in putatively human-specific genes. A sizeable proportion of these were missense polymorphisms associated with complex disease. Since both human-specific genes and genes associated with complex disease have often experienced particularly rapid rates of evolutionary change, either due to weaker purifying selection or positive selection, it is proposed that a significant number of human-specific genes may play a role in complex disease.

Indexed as

GenesGenome, HumanGenetic Diseases, InbornGenetic Predisposition to DiseaseGenotypeHumansMutation

Identifiers

PMID21296743
PMCPMC3525227

What Socratic holds

Textmetadata
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 Socratic graph.