Genetic Epidemiology, Psychiatric Genetics, Asthma 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
15280902
TITLE
Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q.
ABSTRACT
Platelet count is a highly heritable trait with genetic factors responsible for around 80% of the phenotypic variance. We measured platelet count longitudinally in 327 monozygotic and 418 dizygotic twin pairs at 12, 14 and 16 years of age. We also performed a genome-wide linkage scan of these twins and their families in an attempt to localize QTLs that influenced variation in platelet concentrations. Suggestive linkage was observed on chromosome 19q13.13-19q13.31 at 12 (LOD = 2.12, P = 0.0009), 14 (LOD = 2.23, P = 0.0007) and 16 (LOD = 1.01, P = 0.016) years of age and multivariate analysis of counts at all three ages increased the LOD to 2.59 (P = 0.0003). A possible candidate in this region is the gene for glycoprotein VI, a receptor involved in platelet aggregation. Smaller linkage peaks were also seen at 2p, 5p, 5q, 10p and 15q. There was little evidence for linkage to the chromosomal regions containing the genes for thrombopoietin (3q27) and the thrombopoietin receptor (1q34), suggesting that polymorphisms in these genes do not contribute substantially to variation in platelet count between healthy individuals.
DATE PUBLISHED
2004 Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2004/07/29 05:00
medline 2005/04/01 09:00
entrez 2004/07/29 05:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Evans DM Evans David M DM Queensland Institute of Medical Research, Brisbane, Australia. davide@well.ox.ac.uk
Zhu G Zhu Gu G
Duffy DL Duffy David L DL
Montgomery GW Montgomery Grant W GW
Frazer IH Frazer Ian H IH
Martin NG Martin Nicholas G NG
INVESTIGATORS
JOURNAL
VOLUME: 12
ISSUE: 10
TITLE: European journal of human genetics : EJHG
ISOABBREVIATION: Eur. J. Hum. Genet.
YEAR: 2004
MONTH: Oct
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1018-4813
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Eur J Hum Genet
COUNTRY: England
ISSNLINKING: 1018-4813
NLMUNIQUEID: 9302235
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Twin Study
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
CA88363 NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Child
Chromosomes, Human, Pair 19 genetics
Female genetics
Genetic Linkage genetics
Genome, Human genetics
Humans genetics
Male genetics
Platelet Count genetics
Platelet Membrane Glycoproteins genetics
Quantitative Trait Loci genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Platelet Membrane Glycoproteins
0 platelet membrane glycoprotein VI
OTHER ID's