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A male-specific quantitative trait locus on 1p21 controlling human stature

Sammalisto, S; Hiekkalinna, T; Suviolahti, E; Sood, K; Metzidis, A; Pajukanta, P; Lilja, H E; Soro-Paavonen, A; Taskinen, M R and Tuomi, T, et al. (2005) In Journal of Medical Genetics 42(12). p.932-939
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... (More)
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. (Less)
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Journal of Medical Genetics
volume
42
issue
12
pages
932 - 939
publisher
BMJ Publishing Group
external identifiers
  • pmid:15827092
  • wos:000233685900007
  • scopus:29144432196
ISSN
0022-2593
DOI
10.1136/jmg.2005.031278
language
English
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yes
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58bb7fff-2aea-4081-833f-6ae590926d6f (old id 211548)
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2007-08-06 09:09:38
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2017-01-29 04:04:50
@article{58bb7fff-2aea-4081-833f-6ae590926d6f,
  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.},
  author       = {Sammalisto, S and Hiekkalinna, T and Suviolahti, E and Sood, K and Metzidis, A and Pajukanta, P and Lilja, H E and Soro-Paavonen, A and Taskinen, M R and Tuomi, T and Almgren, Peter and Orho-Melander, Marju and Groop, Leif and Peltonen, L and Perola, M},
  issn         = {0022-2593},
  language     = {eng},
  number       = {12},
  pages        = {932--939},
  publisher    = {BMJ Publishing Group},
  series       = {Journal of Medical Genetics},
  title        = {A male-specific quantitative trait locus on 1p21 controlling human stature},
  url          = {http://dx.doi.org/10.1136/jmg.2005.031278},
  volume       = {42},
  year         = {2005},
}