Imperial College London
Alternate

DrPinarUlug

Faculty of Medicine, Department of Surgery & Cancer

Honorary Research Fellow
 
 
 
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Contact

 

+44 (0)20 3311 7307p.ulug Website

 
 
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Location

 

North Wing - 4N12Charing Cross HospitalCharing Cross Campus

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Summary

 

Publications

Citation

BibTex format

@article{Creary:2009:10.1371/journal.pone.0004218,
author = {Creary, LE and Ulug, P and Menzel, S and McKenzie, CA and Hanchard, NA and Taylor, V and Farrall, M and Forrester, TE and Thein, SL},
doi = {10.1371/journal.pone.0004218},
journal = {PLoS ONE},
title = {Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients},
url = {http://dx.doi.org/10.1371/journal.pone.0004218},
volume = {4},
year = {2009}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Fetal haemoglobin (HbF) is a major ameliorating factor in sickle cell disease. We investigated if a quantitative trait locus on chromosome 6q23 was significantly associated with HbF and F cell levels in individuals of African descent. Single nucleotide polymorphisms (SNPs) in a 24-kb intergenic region, 33-kb upstream of the HBS1L gene and 80-kb upstream of the MYB gene, were typed in 177 healthy Afro-Caribbean subjects (AC) of approximately 7% European admixture, 631 healthy Afro-Germans (AG, a group of African and German descendents located in rural Jamaica with about 20% European admixture), 87 West African and Afro-Caribbean individuals with sickle cell anaemia (HbSS), as well as 75 Northern Europeans, which served as a contrasting population. Association with a tag SNP for the locus was detected in all four groups (AC, P=0.005, AG, P=0.002, HbSS patients, P=0.019, Europeans, P=1.5×10¯). The association signal varied across the interval in the African-descended groups, while it is more uniform in Europeans. The 6q QTL for HbF traits is present in populations of African origin and is also acting in sickle cell anaemia patients. We have started to distinguish effects originating from European and African ancestral populations in our admixed study populations.
AU  - Creary,LE
AU  - Ulug,P
AU  - Menzel,S
AU  - McKenzie,CA
AU  - Hanchard,NA
AU  - Taylor,V
AU  - Farrall,M
AU  - Forrester,TE
AU  - Thein,SL
DO  - 10.1371/journal.pone.0004218
PY  - 2009///
SN  - 1932-6203
TI  - Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients
T2  - PLoS ONE
UR  - http://dx.doi.org/10.1371/journal.pone.0004218
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000265479900010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/57625
VL  - 4
ER  -
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