Combined genome scans for body stature in 6,602 European twins: Evidence for common Caucasian loci

Perola, Markus, Sammalisto, Sampo, Hiekkalinna, Tero, Martin, Nick G., Visscher, Peter M., Montgomery, Grant W., Benyamin, Beben, Harris, Jennifer R., Boomsma, Dorret, Willemsen, Gonneke, Hottenga, Jouke-Jan, Christensen, Karre, Kyvik, Kirsten Ohm, Sorensen, Thorkild I., Pedersen, Nancy L., Magnusson, Patrik K., Spector, Tim D., Widen, Elisabeth, Silventoinen, Karri, Kaprio, Jaakko, Palotie, Aarno, Peltonen, Leena and GenomEUtwin Project (2007) Combined genome scans for body stature in 6,602 European twins: Evidence for common Caucasian loci. PLoS Genetics, 3 6: 1019-1028. doi:10.1371/journal.pgen.0030097

Author Perola, Markus
Sammalisto, Sampo
Hiekkalinna, Tero
Martin, Nick G.
Visscher, Peter M.
Montgomery, Grant W.
Benyamin, Beben
Harris, Jennifer R.
Boomsma, Dorret
Willemsen, Gonneke
Hottenga, Jouke-Jan
Christensen, Karre
Kyvik, Kirsten Ohm
Sorensen, Thorkild I.
Pedersen, Nancy L.
Magnusson, Patrik K.
Spector, Tim D.
Widen, Elisabeth
Silventoinen, Karri
Kaprio, Jaakko
Palotie, Aarno
Peltonen, Leena
GenomEUtwin Project
Title Combined genome scans for body stature in 6,602 European twins: Evidence for common Caucasian loci
Journal name PLoS Genetics   Check publisher's open access policy
ISSN 1553-7390
Publication date 2007-06-08
Sub-type Article (original research)
DOI 10.1371/journal.pgen.0030097
Open Access Status DOI
Volume 3
Issue 6
Start page 1019
End page 1028
Total pages 10
Editor W. N. Frankel
Place of publication San Francisco, United States
Publisher Public Library of Science
Collection year 2008
Language eng
Subject 730107 Inherited diseases (incl. gene therapy)
321011 Medical Genetics
Abstract Twin cohorts provide a unique advantage for investigations of the role of genetics and environment in the etiology of variation in common complex traits by reducing the variance due to environment, age, and cohort differences. The GenomEUtwin ( consortium consists of eight twin cohorts (Australian, Danish, Dutch, Finnish, Italian, Norwegian, Swedish, and United Kingdom) with the total resource of hundreds of thousands of twin pairs. We performed quantitative trait locus (QTL) analysis of one of the most heritable human complex traits, adult stature (body height) using genome-wide scans performed for 3,817 families (8,450 individuals) derived from twin cohorts from Australia, Denmark, Finland, Netherlands, Sweden, and United Kingdom with an approximate ten-centimorgan microsatellite marker map. The marker maps for different studies differed and they were combined and related to the sequence positions using software developed by us, which is publicly available ( Variance component linkage analysis was performed with age, sex, and country of origin as covariates. The covariate adjusted heritability was 81% for stature in the pooled dataset. We found evidence for a major QTL for human stature on 8q21.3 (multipoint logarithm of the odds 3.28), and suggestive evidence for loci on Chromosomes X, 7, and 20. Some evidence of sex heterogeneity was found, however, no obvious female-specific QTLs emerged. Several cohorts contributed to the identified loci, suggesting an evolutionarily old genetic variant having effects on stature in European-based populations. To facilitate the genetic studies of stature we have also set up a website that lists all stature genome scans published and their most significant loci (
Keyword Adult
Body Height/*genetics
Cohort Studies
European Continental Ancestry Group
*Genome, Human
Linkage (Genetics)
Lod Score
Models, Genetic
Models, Statistical
Twins, Dizygotic/*ethnology/*genetics
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

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Created: Mon, 03 Mar 2008, 11:27:45 EST