|
|
Blood, 1 September 2006, Vol. 108, No. 5, pp. 1562-1568.
Prepublished online as a Blood First Edition Paper on May 16, 2006; DOI 10.1182/blood-2006-01-008094.
 Previous Article | Next Article 
Submitted January 11, 2006
Accepted March 13, 2006
Fine mapping of quantitative trait nucleotides
underlying thrombin activatable fibrinolysis inhibitor
antigen levels by a trans-ethnic study
Corinne Frere, David-Alexandre Tregouet, Pierre-Emmanuel Morange, Noemie Saut, Dinar Kouassi, Irene Juhan-Vague, Laurence Tiret, and Marie-Christine Alessi*
INSERM, UMR 626,Marseille; Faculte de Medecine CHU Timone, Marseille, France
INSERM, U525, IFR 14, Paris; Universite Pierre et Marie Curie, Paris, France
* Corresponding author; email: marie-christine.alessi{at}medecine.univ-mrs.fr.
Recent studies revisiting the association between plasma
Thrombin-Activatable Fibrinolysis Inhibitor (TAFI) Ag
levels and polymorphisms of the CPB2 gene (coding for
TAFI) suggested that TAFI Ag levels were influenced by
two major quantitative trait nucleotides (QTNs) in
Caucasians. However, the strong linkage disequilibrium
(LD) between CPB2 polymorphisms in Caucasians did not
allow to distinguish which polymorphisms could be the
putative QTNs. To get a better insight into the
identification of QTNs, a trans-ethnic haplotype
analysis contrasting two populations of African and
European subjects was performed using 13 CPB2
polymorphisms. Results of the haplotype analyses
suggested that three QTNs had independent effects and
explained about 15% of the TAFI variability,
consistently in the two populations. The lower LD
observed in the African population enabled us to
identify the g.1583T>A SNP located in 3'UTR as one of
these QTNs, whereas the g.-2599C>G and g.-2345_-2344insG
SNPs located in the 5' region might be the two other
QTNs. A phylogenetic study suggested that these three
polymorphisms occurred before the period of
migration "out of Africa". Although this trans-ethnic
comparison contributed to better map the putative CPB2
QTNs, further studies are required to clarify the role
of the promoter region.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
M. B. Boffa, D. Maret, J. D. Hamill, N. Bastajian, P. Crainich, N. S. Jenny, Z. Tang, E. M. Macy, R. P. Tracy, R. F. Franco, et al.
Effect of single nucleotide polymorphisms on expression of the gene encoding thrombin-activatable fibrinolysis inhibitor: a functional analysis
Blood,
January 1, 2008;
111(1):
183 - 189.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
D. A. Tregouet and V. Garelle
A new JAVA interface implementation of THESIAS: testing haplotype effects in association studies
Bioinformatics,
April 15, 2007;
23(8):
1038 - 1039.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. Ladenvall, A. Gils, K. Jood, C. Blomstrand, P. J. Declerck, and C. Jern
Thrombin Activatable Fibrinolysis Inhibitor Activation Peptide Shows Association With All Major Subtypes of Ischemic Stroke and With TAFI Gene Variation
Arterioscler. Thromb. Vasc. Biol.,
April 1, 2007;
27(4):
955 - 962.
[Abstract]
[Full Text]
[PDF]
|
|
|
| |
