title: A male-specific quantitative trait locus on 1p21 controlling human stature.
abstract: BACKGROUND
  Many genome-wide scans aimed at complex traits have been statistically underpowered due to small sample size. Combining data from several genome-wide screens with comparable quantitative phenotype data should improve statistical power for the localisation of genomic regions contributing to these traits.
  
  
  OBJECTIVE
  To perform a genome-wide screen for loci affecting adult stature by combined analysis of four previously performed genome-wide scans.
  
  
  METHODS
  We developed a web based computer tool, Cartographer, for combining genetic marker maps which positions genetic markers accurately using the July 2003 release of the human genome sequence and the deCODE genetic map. Using Cartographer, we combined the primary genotype data from four genome-wide scans and performed variance components (VC) linkage analyses for human stature on the pooled dataset of 1417 individuals from 277 families and performed VC analyses for males and females separately.
  
  
  RESULTS
  We found significant linkage to stature on 1p21 (multipoint LOD score 4.25) and suggestive linkages on 9p24 and 18q21 (multipoint LOD scores 2.57 and 2.39, respectively) in males-only analyses. We also found suggestive linkage to 4q35 and 22q13 (multipoint LOD scores 2.18 and 2.85, respectively) when we analysed both females and males and to 13q12 (multipoint LOD score 2.66) in females-only analyses.
  
  
  CONCLUSIONS
  We strengthened the evidence for linkage to previously reported quantitative trait loci (QTL) for stature and also found significant evidence of a novel male-specific QTL on 1p21. Further investigation of several interesting candidate genes in this region will help towards characterisation of this first sex-specific locus affecting human stature.
authors.affiliation: Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland.
authors.forename: S
authors.initials: S
authors.lastname: Sammalisto
authors.forename: T
authors.initials: T
authors.lastname: Hiekkalinna
authors.forename: E
authors.initials: E
authors.lastname: Suviolahti
authors.forename: K
authors.initials: K
authors.lastname: Sood
authors.forename: A
authors.initials: A
authors.lastname: Metzidis
authors.forename: P
authors.initials: P
authors.lastname: Pajukanta
authors.forename: H E
authors.initials: HE
authors.lastname: Lilja
authors.forename: A
authors.initials: A
authors.lastname: Soro-Paavonen
authors.forename: M-R
authors.initials: MR
authors.lastname: Taskinen
authors.forename: T
authors.initials: T
authors.lastname: Tuomi
authors.forename: P
authors.initials: P
authors.lastname: Almgren
authors.forename: M
authors.initials: M
authors.lastname: Orho-Melander
authors.forename: L
authors.initials: L
authors.lastname: Groop
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
authors.forename: M
authors.initials: M
authors.lastname: Perola
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001827:Body Height / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D005260:Female; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D040641:Quantitative Trait Loci; D012737:Sex Factors