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
16950815
TITLE
Genomewide scans of red cell indices suggest linkage on chromosome 6q23.
ABSTRACT
BACKGROUND NlmCategory: BACKGROUND
The red cell indices quantify the size, number and oxygen-carrying ability of erythrocytes. Although the genetic basis of many monogenic forms of anaemia is well understood, comparatively little is known about the genes responsible for variation in the red cell indices among healthy participants.
OBJECTIVE NlmCategory: OBJECTIVE
To identify quantitative trait loci (QTLs) responsible for normal variation in the red cell indices of 391 pairs of dizygotic twins who were measured longitudinally at 12, 14 and 16 years of age.
RESULTS NlmCategory: RESULTS
Evidence suggesting linkage of red cell indices to haemoglobin concentration (LOD = 3.03) and haematocrit (LOD = 2.95) on chromosome 6q23, a region previously identified as possibly harbouring a QTL for haematocrit, was found. Evidence for linkage to several other regions of the genome, including chromosome 4q32 for red cell count and 7q for mean cell volume, was also found. In contrast, there was little evidence of linkage to the chromosomal regions containing the genes for erythropoietin (7q21) and its receptor (19p13.2), nor to the regions containing the genes for the haemoglobin alpha (16p13.3) and beta chains (11p15.5).
CONCLUSION NlmCategory: CONCLUSIONS
Findings provide additional evidence for a QTL affecting haemoglobin and haematocrit on chromosome 6q23. In contrast, polymorphisms in the genes coding for erythropoietin, its receptor and the haemoglobin alpha and beta chains do not appear to contribute substantially to variation in the red cell indices between healthy persons.
DATE PUBLISHED
2007 Jan
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2006/09/01
pubmed 2006/09/05 09:00
medline 2007/01/31 09:00
entrez 2006/09/05 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Iliadou A Iliadou A A Queensland Institute of Medical Research, Brisbane, Queensland, Australia.
Evans DM Evans D M DM
Zhu G Zhu G G
Duffy DL Duffy D L DL
Frazer IH Frazer I H IH
Montgomery GW Montgomery G W GW
Martin NG Martin N G NG
INVESTIGATORS
JOURNAL
VOLUME: 44
ISSUE: 1
TITLE: Journal of medical genetics
ISOABBREVIATION: J. Med. Genet.
YEAR: 2007
MONTH: Jan
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1468-6244
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: J Med Genet
COUNTRY: England
ISSNLINKING: 0022-2593
NLMUNIQUEID: 2985087R
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
Cites Acta Genet Med Gemellol (Roma). 1993;42(3-4):245-52 7871941
Cites Am Heart J. 1994 Mar;127(3):674-82 8122618
Cites Behav Genet. 1996 Mar;26(2):161-6 8639151
Cites Cancer. 1996 Jul 15;78(2):252-7 8674000
Cites Behav Genet. 1996 Sep;26(5):519-25 8917951
Cites Behav Genet. 1996 Sep;26(5):527-32 8917952
Cites Nat Genet. 1997 Dec;17(4):387-92 9398838
Cites Am J Hum Genet. 1998 May;62(5):1198-211 9545414
Cites Am J Hum Genet. 1998 Oct;63(4):1190-201 9758596
Cites Genet Epidemiol. 1999;16(1):40-53 9915566
Cites Am J Hum Genet. 1999 Aug;65(2):483-92 10417291
Cites J Med Genet. 2005 Jan;42(1):75-9 15635079
Cites Blood. 2000 Jan 1;95(1):342-6 10607722
Cites Twin Res. 1999 Dec;2(4):250-7 10723803
Cites Ann Hum Genet. 1999 Nov;63(Pt 6):545-63 11246457
Cites Nat Genet. 2002 Jan;30(1):97-101 11731797
Cites Am J Hum Genet. 2002 Jun;70(6):1599-602 11992269
Cites Am J Hum Genet. 2003 Mar;72(3):561-70 12587094
Cites Twin Res. 2004 Apr;7(2):197-210 15169604
Cites Ann Hum Genet. 1976 May;39(4):485-91 952492
Cites Clin Genet. 1977 Aug;12(2):73-6 560934
Cites Stroke. 1978 Jul-Aug;9(4):369-74 675749
Cites Genet Epidemiol. 1985;2(2):133-44 4054596
Cites Clin Chem. 1986 May;32(5):801-4 3698272
Cites Nucleic Acids Res. 1988 Feb 11;16(3):1215 3344216
Cites Genet Epidemiol. 1993;10(6):671-6 8314079
Cites Am J Hum Genet. 1994 Mar;54(3):535-43 8116623
Cites Nat Genet. 1996 Jan;12(1):58-64 8528252
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Child
Chromosome Mapping
Chromosomes, Human, Pair 6 genetics
Erythrocyte Indices genetics
Female genetics
Genome, Human genetics
Hematocrit genetics
Humans genetics
Lod Score genetics
Male genetics
Quantitative Trait Loci genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
PMC2597913 NLM