Evidence map›Paper›PMID 18760389›Full record

ArticleAmerican journal of human genetics2008

Runs of homozygosity in European populations.

Ruth McQuillan, Anne-Louise Leutenegger, Rehab Abdel-Rahman, Christopher S Franklin, Marijana Pericic, Lovorka Barac-Lauc, Nina Smolej-Narancic, Branka Janicijevic, Ozren Polasek, Albert Tenesa and 11 more

Erratum issuedAbstract read
In one paragraph

Article in American journal of human genetics, 2008. 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 749 papers.

0numbers the graph read from it
0cells of the map it votes in
749citing 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

749 citing papers in PubMed.

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  8. Bony fish genomes: Status and gaps.Journal of fish biology · 2026
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  16. Deciphering genetic diversity and selection footprints in Rathi cattle through ddRAD-based genome-wide analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Article
  17. Genomic Analysis of Inbreeding Depression on Productive Traits in Rubia Galega Beef Cattle Breed.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026
    Article
  18. Loss of ATRAID in Late-Onset, Non-Syndromic Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2026
    Article
  19. Article
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689 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

21 authors.

Ruth McQuillanPublic Health Sciences, University of Edinburgh Medical School, Edinburgh EH8 9AG, UK.
Anne-Louise Leutenegger
Rehab Abdel-Rahman
Christopher S Franklin
Marijana Pericic
Lovorka Barac-Lauc
Nina Smolej-Narancic
Branka Janicijevic
Ozren Polasek
Albert Tenesa
Andrew K Macleod
Susan M Farrington
Pavao Rudan
Caroline Hayward
Veronique Vitart
Igor Rudan
Sarah H Wild
Malcolm G Dunlop
Alan F Wright
Harry Campbell
James F Wilson

Funding

Chief Scientist Office CZB/4/449Chief Scientist Office CZB/4/710Medical Research Council MC_U127527198Medical Research Council MC_U127561128Wellcome Trust
6 · The paper itself

Abstract

Estimating individual genome-wide autozygosity is important both in the identification of recessive disease variants via homozygosity mapping and in the investigation of the effects of genome-wide homozygosity on traits of biomedical importance. Approaches have tended to involve either single-point estimates or rather complex multipoint methods of inferring individual autozygosity, all on the basis of limited marker data. Now, with the availability of high-density genome scans, a multipoint, observational method of estimating individual autozygosity is possible. Using data from a 300,000 SNP panel in 2618 individuals from two isolated and two more-cosmopolitan populations of European origin, we explore the potential of estimating individual autozygosity from data on runs of homozygosity (ROHs). Termed F(roh), this is defined as the proportion of the autosomal genome in runs of homozygosity above a specified length. Mean F(roh) distinguishes clearly between subpopulations classified in terms of grandparental endogamy and population size. With the use of good pedigree data for one of the populations (Orkney), F(roh) was found to correlate strongly with the inbreeding coefficient estimated from pedigrees (r = 0.86). Using pedigrees to identify individuals with no shared maternal and paternal ancestors in five, and probably at least ten, generations, we show that ROHs measuring up to 4 Mb are common in demonstrably outbred individuals. Given the stochastic variation in ROH number, length, and location and the fact that ROHs are important whether ancient or recent in origin, approaches such as this will provide a more useful description of genomic autozygosity than has hitherto been possible.

Indexed as

Genome, HumanHomozygotePedigreeAdolescentAdultAgedAged, 80 and overFemaleHaplotypesHumansMaleMiddle AgedWhite People

Identifiers

PMID18760389
PMCPMC2556426

What OpenQuestion holds

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Registered trials

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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.