|
|
| PMID |
|
|
| 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 |
|
|
| 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 |
|
|
