Evidence map›Paper›PMID 15827092›Full record

ArticleJournal of medical genetics2005

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

S Sammalisto, T Hiekkalinna, E Suviolahti, K Sood, A Metzidis, P Pajukanta, H E Lilja, A Soro-Paavonen, M-R Taskinen, T Tuomi and 5 more

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Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

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14citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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14 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

15 authors.

S SammalistoDepartment of Molecular Medicine, National Public Health Institute, Helsinki, Finland.
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

Funding

Identification of genes predisposing to atherosclerosisR01HL070150 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI PELTONEN, LEENA · 2003 to 2006
$1.5M
NHLBI NIH HHS R01HL 70150-0IA1
6 · The paper itself

Abstract

backgroundMany 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.

objectiveTo perform a genome-wide screen for loci affecting adult stature by combined analysis of four previously performed genome-wide scans.

methodsWe 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.

resultsWe 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.

conclusionsWe 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.

Indexed as

Chromosomes, Human, Pair 1AdultAgedAged, 80 and overBody HeightFemaleGenome, HumanGenotypeHumansLod ScoreMaleMiddle AgedQuantitative Trait LociSex Factors

Identifiers

PMID15827092
PMCPMC1735962

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.