Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
18828731
TITLE
Vitamin D receptor gene polymorphisms have negligible effect on human height.
ABSTRACT
Human height is a highly heritable trait, with genetic factors explaining up to 90% of phenotypic variation. Vitamin D levels are known to influence several physiological processes, including skeletal growth. The vitamin D receptor (VDR) gene has been reported as contributing to variation in height. A meta-analysis of 13607 adult individuals found a small but significant association with the rs1544410 (BsmI) polymorphism. In contrast, the meta-analysis found no effect in a sample of 550 children. Two recent studies reported variants with large effect on height elsewhere in VDR (rs10735810 [FokI] and rs7139166 [-1,521] polymorphisms). We genotyped large Caucasian samples from Australia (N = 3,906) and the Netherlands (N = 1,689) for polymorphisms in VDR. The Australian samples were twin families with height measures from 3 time points throughout adolescence. The Dutch samples were adult twins. We use the available family data to perform both within and between family tests of association. We found no significant associations for any of the genotyped variants after multiple testing correction. The (non-significant) effect of rs1544410 in the Australian adolescent cohort was in the same direction and of similar magnitude (additive effect 0.3 cm) to the effect observed in the published adult meta-analysis. An effect of this size explains approximately 0.1% of the phenotypic variance in height - this implies that many, probably hundreds, of such variants are responsible for the observed genetic variation. Our results did not support any role for two other regions (rs10735810, rs7139166) of VDR in explaining variation in height.
DATE PUBLISHED
2008 Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2008/10/03 09:00
medline 2009/08/27 09:00
entrez 2008/10/03 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Macgregor S Macgregor Stuart S Genetic Epidemiology, Queensland Institute of Medical Research, Australia. Stuart.MacGregor@qimr.edu.au
Hottenga JJ Hottenga Jouke-Jan JJ
Lind PA Lind Penelope A PA
Suchiman HE Suchiman H Eka D HE
Willemsen G Willemsen Gonneke G
Slagboom PE Slagboom P Eline PE
Montgomery GW Montgomery Grant W GW
Martin NG Martin Nicholas G NG
Visscher PM Visscher Peter M PM
Boomsma DI Boomsma Dorret I DI
INVESTIGATORS
JOURNAL
VOLUME: 11
ISSUE: 5
TITLE: Twin research and human genetics : the official journal of the International Society for Twin Studies
ISOABBREVIATION: Twin Res Hum Genet
YEAR: 2008
MONTH: Oct
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1832-4274
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Twin Res Hum Genet
COUNTRY: England
ISSNLINKING: 1832-4274
NLMUNIQUEID: 101244624
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
068545/Z/02 Wellcome Trust United Kingdom
G0000934 Medical Research Council United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Alleles
Australia
Body Height genetics
Child genetics
Gene Frequency genetics
Genotype genetics
Humans genetics
Netherlands genetics
Polymorphism, Single Nucleotide genetics
Receptors, Calcitriol genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Receptors, Calcitriol
OTHER ID's