Identification of Quantitative Trait Loci for Fibrin Clot Phenotypes. The EuroCLOT Study

Frances M K Williams, Angela M Carter, Bernet Kato, Mario Falchi, Lise Bathum, Gabriela Surdulescu, Kirsten Ohm Kyvik, Aarno Palotie, Tim D Spector, Peter J Grant, EuroCLOT Investigators

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Udgivelsesdato: 2009-Jan-15
OriginalsprogEngelsk
TidsskriftArteriosclerosis, Thrombosis, and Vascular Biology
Vol/bind29
Udgave nummer4
Sider (fra-til)600-5
ISSN1079-5642
DOI
StatusUdgivet - 15. jan. 2009

Fingeraftryk

Quantitative Trait Loci
Dizygotic Twins
Chromosomes, Human, Pair 5
Chromosomes, Human, Pair 6
Human Genome
Denmark

Citer dette

Williams, F. M. K., Carter, A. M., Kato, B., Falchi, M., Bathum, L., Surdulescu, G., ... Investigators, ELOT. (2009). Identification of Quantitative Trait Loci for Fibrin Clot Phenotypes. The EuroCLOT Study. Arteriosclerosis, Thrombosis, and Vascular Biology, 29(4), 600-5. https://doi.org/10.1161/ATVBAHA.108.178103
Williams, Frances M K ; Carter, Angela M ; Kato, Bernet ; Falchi, Mario ; Bathum, Lise ; Surdulescu, Gabriela ; Kyvik, Kirsten Ohm ; Palotie, Aarno ; Spector, Tim D ; Grant, Peter J ; Investigators, EuroCLOT. / Identification of Quantitative Trait Loci for Fibrin Clot Phenotypes. The EuroCLOT Study. I: Arteriosclerosis, Thrombosis, and Vascular Biology. 2009 ; Bind 29, Nr. 4. s. 600-5.
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title = "Identification of Quantitative Trait Loci for Fibrin Clot Phenotypes. The EuroCLOT Study",
abstract = "OBJECTIVE: Fibrin makes up the structural basis of an occlusive arterial thrombus, and variability in fibrin phenotype relates to cardiovascular risk. The aims of the current study from the EU consortium EuroCLOT were to (1) determine the heritability of fibrin phenotypes and (2) identify QTLs associated with fibrin phenotypes. METHODS AND RESULTS: 447 dizygotic (DZ) and 460 monozygotic (MZ) pairs of healthy UK white female twins and 199 DZ twin pairs from Denmark were studied. D-dimer, an indicator of fibrin turnover, was measured by ELISA and measures of clot formation, morphology, and lysis were determined by turbidimetric assays. Heritability estimates and genome-wide linkage analysis were performed. Estimates of heritability for d-dimer and turbidometric variables were in the range 17{\%} to 46{\%}, with highest levels for maximal absorbance which provides an estimate of clot density. Genome-wide linkage analysis revealed 6 significant regions with LOD >3 on 5 chromosomes (5, 6, 9, 16, and 17). CONCLUSIONS: The results indicate a significant genetic contribution to variability in fibrin phenotypes and highlight regions in the human genome which warrant further investigation in relation to ischemic cardiovascular disorders and their therapy.",
author = "Williams, {Frances M K} and Carter, {Angela M} and Bernet Kato and Mario Falchi and Lise Bathum and Gabriela Surdulescu and Kyvik, {Kirsten Ohm} and Aarno Palotie and Spector, {Tim D} and Grant, {Peter J} and EuroCLOT Investigators",
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doi = "10.1161/ATVBAHA.108.178103",
language = "English",
volume = "29",
pages = "600--5",
journal = "Arteriosclerosis, Thrombosis, and Vascular Biology",
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Williams, FMK, Carter, AM, Kato, B, Falchi, M, Bathum, L, Surdulescu, G, Kyvik, KO, Palotie, A, Spector, TD, Grant, PJ & Investigators, ELOT 2009, 'Identification of Quantitative Trait Loci for Fibrin Clot Phenotypes. The EuroCLOT Study', Arteriosclerosis, Thrombosis, and Vascular Biology, bind 29, nr. 4, s. 600-5. https://doi.org/10.1161/ATVBAHA.108.178103

Identification of Quantitative Trait Loci for Fibrin Clot Phenotypes. The EuroCLOT Study. / Williams, Frances M K; Carter, Angela M; Kato, Bernet; Falchi, Mario; Bathum, Lise; Surdulescu, Gabriela; Kyvik, Kirsten Ohm; Palotie, Aarno; Spector, Tim D; Grant, Peter J; Investigators, EuroCLOT.

I: Arteriosclerosis, Thrombosis, and Vascular Biology, Bind 29, Nr. 4, 15.01.2009, s. 600-5.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Identification of Quantitative Trait Loci for Fibrin Clot Phenotypes. The EuroCLOT Study

AU - Williams, Frances M K

AU - Carter, Angela M

AU - Kato, Bernet

AU - Falchi, Mario

AU - Bathum, Lise

AU - Surdulescu, Gabriela

AU - Kyvik, Kirsten Ohm

AU - Palotie, Aarno

AU - Spector, Tim D

AU - Grant, Peter J

AU - Investigators, EuroCLOT

PY - 2009/1/15

Y1 - 2009/1/15

N2 - OBJECTIVE: Fibrin makes up the structural basis of an occlusive arterial thrombus, and variability in fibrin phenotype relates to cardiovascular risk. The aims of the current study from the EU consortium EuroCLOT were to (1) determine the heritability of fibrin phenotypes and (2) identify QTLs associated with fibrin phenotypes. METHODS AND RESULTS: 447 dizygotic (DZ) and 460 monozygotic (MZ) pairs of healthy UK white female twins and 199 DZ twin pairs from Denmark were studied. D-dimer, an indicator of fibrin turnover, was measured by ELISA and measures of clot formation, morphology, and lysis were determined by turbidimetric assays. Heritability estimates and genome-wide linkage analysis were performed. Estimates of heritability for d-dimer and turbidometric variables were in the range 17% to 46%, with highest levels for maximal absorbance which provides an estimate of clot density. Genome-wide linkage analysis revealed 6 significant regions with LOD >3 on 5 chromosomes (5, 6, 9, 16, and 17). CONCLUSIONS: The results indicate a significant genetic contribution to variability in fibrin phenotypes and highlight regions in the human genome which warrant further investigation in relation to ischemic cardiovascular disorders and their therapy.

AB - OBJECTIVE: Fibrin makes up the structural basis of an occlusive arterial thrombus, and variability in fibrin phenotype relates to cardiovascular risk. The aims of the current study from the EU consortium EuroCLOT were to (1) determine the heritability of fibrin phenotypes and (2) identify QTLs associated with fibrin phenotypes. METHODS AND RESULTS: 447 dizygotic (DZ) and 460 monozygotic (MZ) pairs of healthy UK white female twins and 199 DZ twin pairs from Denmark were studied. D-dimer, an indicator of fibrin turnover, was measured by ELISA and measures of clot formation, morphology, and lysis were determined by turbidimetric assays. Heritability estimates and genome-wide linkage analysis were performed. Estimates of heritability for d-dimer and turbidometric variables were in the range 17% to 46%, with highest levels for maximal absorbance which provides an estimate of clot density. Genome-wide linkage analysis revealed 6 significant regions with LOD >3 on 5 chromosomes (5, 6, 9, 16, and 17). CONCLUSIONS: The results indicate a significant genetic contribution to variability in fibrin phenotypes and highlight regions in the human genome which warrant further investigation in relation to ischemic cardiovascular disorders and their therapy.

U2 - 10.1161/ATVBAHA.108.178103

DO - 10.1161/ATVBAHA.108.178103

M3 - Journal article

C2 - 19150881

VL - 29

SP - 600

EP - 605

JO - Arteriosclerosis, Thrombosis, and Vascular Biology

JF - Arteriosclerosis, Thrombosis, and Vascular Biology

SN - 1079-5642

IS - 4

ER -