Evidence map›Paper›PMID 11565063›Full record

ArticleAmerican journal of human genetics2001

Genomewide scans of complex human diseases: true linkage is hard to find.

J Altmüller, L J Palmer, G Fischer, H Scherb, M Wjst

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 125 papers, 9 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
125citing papers in PubMed, 9 pooled it
–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

125 citing papers in PubMed, 9 syntheses or guidelines pooled it.

  1. Meta-analysis of genome-wide linkage scans for renal function traits.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2012
    Pooled it
  2. Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2007
    Pooled it
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  7. Meta-analysis in psychiatric genetics.Current psychiatry reports · 2005
    Pooled it
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  10. Trial
  11. Article
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  13. Genetics, epigenetics, and transcriptomics of preterm birth.American journal of reproductive immunology (New York, N.Y. : 1989) · 2022
    Review
  14. The Genetic Basis of Moyamoya Disease.Translational stroke research · 2022
    Review
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article

65 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

J AltmüllerInstitute of Epidemiology, GSF [corrected] National Research Center for Environment and Health, Neuherberg, Germany. altmueller@gsf.de
L J Palmer
G Fischer
H Scherb
M Wjst

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Many "complex" human diseases, which involve multiple genetic and environmental determinants, have increased in incidence during the past 2 decades. During the same time period, considerable effort and expense have been expended in whole-genome screens aimed at detection of genetic loci contributing to the susceptibility to complex human diseases. However, the success of positional cloning attempts based on whole-genome screens has been limited, and many of the fundamental questions relating to the genetic epidemiology of complex human disease remain unanswered. Both to review the success of the positional cloning paradigm as applied to complex human disease and to investigate the characteristics of the whole-genome scans undertaken to date, we created a database of 101 studies of complex human disease, which were found by a systematic Medline search (current as of December 2000). We compared these studies, concerning 31 different human complex diseases, with regard to design, methods, and results. The "significance" categorizations proposed by Lander and Kruglyak were used as criteria for the "success" of a study. Most (66.3% [n=67]) of the studies did not show "significant" linkage when the criteria of Lander and Kruglyak (1995) were used, and the results of studies of the same disease were often inconsistent. Our analyses suggest that no single study design consistently produces more-significant results. Multivariate analysis suggests that the only factors independently associated with increased study success are (a) an increase in the number of individuals studied and (b) study of a sample drawn from only one ethnic group. Positional cloning based on whole-genome screens in complex human disease has proved more difficult than originally had been envisioned; detection of linkage and positional cloning of specific disease-susceptibility loci remains elusive.

Indexed as

Chromosome MappingDiseaseAsthmaDatabases, GeneticDiabetes Mellitus, Type 2Genetic LinkageGenome, HumanHumansMultifactorial InheritanceRegression Analysis

Identifiers

PMID11565063
PMCPMC1274370

What OpenQuestion holds

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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.