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

Markus Perola, Sampo Sammalisto, Tero Hiekkalinna, Nick G. Martin, Peter M. Visscher, Grant W. Montgomery, Beben Benyamin, Jennifer R. Harris, Dorret Boomsma, Gonneke Willemsen, Jouke Jan Hottenga, Kaare Christensen, Kirsten Ohm Kyvik, Thorkild I.A. Sørensen, Nancy L. Pedersen, Patrik K.E. Magnusson, Tim D. Spector, Elisabeth Widen, Karri Silventoinen, Jaakko KaprioAarno Palotie, Leena Peltonen

Research output: Contribution to journalArticlepeer-review

148 Citations (Scopus)


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 tencentimorgan 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 (https://apps.bioinfo. 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 ( stature_gene_map.htm).

Original languageEnglish
Pages (from-to)1019-1028
Number of pages10
JournalPLoS Genetics
Issue number6
Publication statusPublished or Issued - Jun 2007
Externally publishedYes

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Cancer Research

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