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C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies

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C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies. / Buil, Alfonso; Trégouët, David-Alexandre; Souto, Juan Carlos; Saut, Noémie; Germain, Marine; Rotival, Maxime; Tiret, Laurence; Cambien, Françcois; Lathrop, Mark; Zeller, Tanja; Alessi, Marie-Christine; Rodriguez de Cordoba, Santiago; Münzel, Thomas; Wild, Philipp; Fontcuberta, Jordi; Gagnon, France; Emmerich, Joseph; Almasy, Laura; Blankenberg, Stefan; Soria, José-Manuel; Morange, Pierre-Emmanuel.

In: BLOOD, Vol. 115, No. 23, 10.06.2010, p. 4644-4650.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Buil, A, Trégouët, D-A, Souto, JC, Saut, N, Germain, M, Rotival, M, Tiret, L, Cambien, F, Lathrop, M, Zeller, T, Alessi, M-C, Rodriguez de Cordoba, S, Münzel, T, Wild, P, Fontcuberta, J, Gagnon, F, Emmerich, J, Almasy, L, Blankenberg, S, Soria, J-M & Morange, P-E 2010, 'C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies', BLOOD, vol. 115, no. 23, pp. 4644-4650. https://doi.org/10.1182/blood-2010-01-263038

APA

Buil, A., Trégouët, D-A., Souto, J. C., Saut, N., Germain, M., Rotival, M., Tiret, L., Cambien, F., Lathrop, M., Zeller, T., Alessi, M-C., Rodriguez de Cordoba, S., Münzel, T., Wild, P., Fontcuberta, J., Gagnon, F., Emmerich, J., Almasy, L., Blankenberg, S., ... Morange, P-E. (2010). C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies. BLOOD, 115(23), 4644-4650. https://doi.org/10.1182/blood-2010-01-263038

Vancouver

Buil A, Trégouët D-A, Souto JC, Saut N, Germain M, Rotival M et al. C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies. BLOOD. 2010 Jun 10;115(23):4644-4650. https://doi.org/10.1182/blood-2010-01-263038

Bibtex

@article{634c135e2ccd48129e8c2b3231661469,
title = "C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies",
abstract = "Through its binding with protein S (PS), a key element of the coagulation/fibrinolysis cascade, the C4b-binding protein (C4BP) has been hypothesized to be involved in the susceptibility to venous thrombosis (VT). To identify genetic factors that may influence the plasma levels of the 3 C4BP existing isoforms, alpha(7)beta(1), alpha(6)beta(1), and alpha(7)beta(0), we conducted a genome-wide association study by analyzing 283 437 single nucleotide polymorphisms (SNPs) in the Genetic Analysis of Idiopathic Thrombophilia (GAIT) study composed of 352 persons. Three SNPs at the C4BPB/C4BPA locus were found genome-wide significantly associated with alpha(7)beta(0) levels. One of these SNPs was further found to explain approximately 11% of the variability of mRNA C4BPA expression in the Gutenberg Heart Study composed of 1490 persons, with no effect on C4BPB mRNA expression. The allele associated with increased alpha(7)beta(0) plasma levels and increased C4BPA expression was further found associated with increased risk of VT (odds ratio [OR] = 1.24 [1.03-1.53]) in 2 independent case-control studies (MARseille THrombosis Association study [MARTHA] and FActeurs de RIsque et de r{\'e}cidives de la maladie thromboembolique VEineuse [FARIVE]) gathering 1706 cases and 1379 controls. This SNP was not associated with free PS or total PS. In conclusion, we observed strong evidence that the C4BPB/C4BPA locus is a new susceptibility locus for VT through a PS-independent mechanism that remains to be elucidated.",
keywords = "Case-Control Studies, Clinical Trials as Topic, Complement C4b-Binding Protein, Female, Gene Expression Regulation/genetics, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Histocompatibility Antigens/blood, Humans, Male, Polymorphism, Single Nucleotide, Protein S, Risk Factors, Venous Thrombosis/blood",
author = "Alfonso Buil and David-Alexandre Tr{\'e}gou{\"e}t and Souto, {Juan Carlos} and No{\'e}mie Saut and Marine Germain and Maxime Rotival and Laurence Tiret and Fran{\c c}cois Cambien and Mark Lathrop and Tanja Zeller and Marie-Christine Alessi and {Rodriguez de Cordoba}, Santiago and Thomas M{\"u}nzel and Philipp Wild and Jordi Fontcuberta and France Gagnon and Joseph Emmerich and Laura Almasy and Stefan Blankenberg and Jos{\'e}-Manuel Soria and Pierre-Emmanuel Morange",
year = "2010",
month = jun,
day = "10",
doi = "10.1182/blood-2010-01-263038",
language = "English",
volume = "115",
pages = "4644--4650",
journal = "BLOOD",
issn = "0006-4971",
publisher = "American Society of Hematology",
number = "23",

}

RIS

TY - JOUR

T1 - C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies

AU - Buil, Alfonso

AU - Trégouët, David-Alexandre

AU - Souto, Juan Carlos

AU - Saut, Noémie

AU - Germain, Marine

AU - Rotival, Maxime

AU - Tiret, Laurence

AU - Cambien, Françcois

AU - Lathrop, Mark

AU - Zeller, Tanja

AU - Alessi, Marie-Christine

AU - Rodriguez de Cordoba, Santiago

AU - Münzel, Thomas

AU - Wild, Philipp

AU - Fontcuberta, Jordi

AU - Gagnon, France

AU - Emmerich, Joseph

AU - Almasy, Laura

AU - Blankenberg, Stefan

AU - Soria, José-Manuel

AU - Morange, Pierre-Emmanuel

PY - 2010/6/10

Y1 - 2010/6/10

N2 - Through its binding with protein S (PS), a key element of the coagulation/fibrinolysis cascade, the C4b-binding protein (C4BP) has been hypothesized to be involved in the susceptibility to venous thrombosis (VT). To identify genetic factors that may influence the plasma levels of the 3 C4BP existing isoforms, alpha(7)beta(1), alpha(6)beta(1), and alpha(7)beta(0), we conducted a genome-wide association study by analyzing 283 437 single nucleotide polymorphisms (SNPs) in the Genetic Analysis of Idiopathic Thrombophilia (GAIT) study composed of 352 persons. Three SNPs at the C4BPB/C4BPA locus were found genome-wide significantly associated with alpha(7)beta(0) levels. One of these SNPs was further found to explain approximately 11% of the variability of mRNA C4BPA expression in the Gutenberg Heart Study composed of 1490 persons, with no effect on C4BPB mRNA expression. The allele associated with increased alpha(7)beta(0) plasma levels and increased C4BPA expression was further found associated with increased risk of VT (odds ratio [OR] = 1.24 [1.03-1.53]) in 2 independent case-control studies (MARseille THrombosis Association study [MARTHA] and FActeurs de RIsque et de récidives de la maladie thromboembolique VEineuse [FARIVE]) gathering 1706 cases and 1379 controls. This SNP was not associated with free PS or total PS. In conclusion, we observed strong evidence that the C4BPB/C4BPA locus is a new susceptibility locus for VT through a PS-independent mechanism that remains to be elucidated.

AB - Through its binding with protein S (PS), a key element of the coagulation/fibrinolysis cascade, the C4b-binding protein (C4BP) has been hypothesized to be involved in the susceptibility to venous thrombosis (VT). To identify genetic factors that may influence the plasma levels of the 3 C4BP existing isoforms, alpha(7)beta(1), alpha(6)beta(1), and alpha(7)beta(0), we conducted a genome-wide association study by analyzing 283 437 single nucleotide polymorphisms (SNPs) in the Genetic Analysis of Idiopathic Thrombophilia (GAIT) study composed of 352 persons. Three SNPs at the C4BPB/C4BPA locus were found genome-wide significantly associated with alpha(7)beta(0) levels. One of these SNPs was further found to explain approximately 11% of the variability of mRNA C4BPA expression in the Gutenberg Heart Study composed of 1490 persons, with no effect on C4BPB mRNA expression. The allele associated with increased alpha(7)beta(0) plasma levels and increased C4BPA expression was further found associated with increased risk of VT (odds ratio [OR] = 1.24 [1.03-1.53]) in 2 independent case-control studies (MARseille THrombosis Association study [MARTHA] and FActeurs de RIsque et de récidives de la maladie thromboembolique VEineuse [FARIVE]) gathering 1706 cases and 1379 controls. This SNP was not associated with free PS or total PS. In conclusion, we observed strong evidence that the C4BPB/C4BPA locus is a new susceptibility locus for VT through a PS-independent mechanism that remains to be elucidated.

KW - Case-Control Studies

KW - Clinical Trials as Topic

KW - Complement C4b-Binding Protein

KW - Female

KW - Gene Expression Regulation/genetics

KW - Genetic Loci

KW - Genetic Predisposition to Disease

KW - Genome-Wide Association Study

KW - Histocompatibility Antigens/blood

KW - Humans

KW - Male

KW - Polymorphism, Single Nucleotide

KW - Protein S

KW - Risk Factors

KW - Venous Thrombosis/blood

U2 - 10.1182/blood-2010-01-263038

DO - 10.1182/blood-2010-01-263038

M3 - SCORING: Journal article

C2 - 20212171

VL - 115

SP - 4644

EP - 4650

JO - BLOOD

JF - BLOOD

SN - 0006-4971

IS - 23

ER -