Literature DB >> 15827092

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

S Sammalisto1, T Hiekkalinna, E Suviolahti, K Sood, A Metzidis, P Pajukanta, H E Lilja, A Soro-Paavonen, M-R Taskinen, T Tuomi, P Almgren, M Orho-Melander, L Groop, L Peltonen, M Perola.   

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.

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Year:  2005        PMID: 15827092      PMCID: PMC1735962          DOI: 10.1136/jmg.2005.031278

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  56 in total

1.  The future of genetic studies of complex human diseases.

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3.  Growth in children with 45,XO Turner's syndrome.

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Journal:  Arch Dis Child       Date:  1974-10       Impact factor: 3.791

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Authors:  V C Sheffield; J L Weber; K H Buetow; J C Murray; D A Even; K Wiles; J M Gastier; J C Pulido; C Yandava; S L Sunden
Journal:  Hum Mol Genet       Date:  1995-10       Impact factor: 6.150

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9.  Linkage between stature and a region on chromosome 20 and analysis of a candidate gene, bone morphogenetic protein 2.

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10.  Genome-wide association study identified CNP12587 region underlying height variation in Chinese females.

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