Genetic determinants of hemostasis phenotypes in Spanish families

Circulation

Volumn 101, Issue 13, 2000, Pages 1546-1551

  Souto, Juan Carlos ^a   Almasy, Laura ^b   Borrell, Montserrat ^a   Garí, Merce ^a   Martínez, Elisabet ^a   Mateo, José ^a   Stone, William H ^c   Blangero, John ^b   Fontcuberta, Jordi ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^c TRINITY UNIVERSITY   (United States)

Author keywords

Coagulation; Epidemiology; Fibrinolysis; Genetics; Thrombosis

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 12; PROTEIN S; THROMBOPLASTIN;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD CLOTTING; CHILD; CONTROLLED STUDY; COVARIANCE; FAMILY STUDY; FEMALE; FIBRINOLYSIS; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; GENETICS; HEMOSTASIS; HERITABILITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PARTIAL THROMBOPLASTIN TIME; PHENOTYPE; PRIORITY JOURNAL; SPAIN; THROMBOSIS;

EID: 0034603799     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.101.13.1546     Document Type: Article

References (24)

1. Scarabin PY. Haemostatic variables and arterial thrombotic disease: epidemiological evidence. In: Seghatchian MJ, Samama MM, Hecker SP, eds. Hypercoagulable States. Boca Raton, Fla: CRC Press; 1996: 209-216.
2. Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyjenkov V, Chandy M, Dahlback B, Ginter EK, Miletich JP, Rosendaal FR, Seligsohn U. Inherited thrombophilia: part 1. Thromb Haemost. 1996;76:651-662.
3. Humphries SE, Panahloo A, Montgomery HE, Green F, Yudkin J. Geneenvironment interaction in the determination of levels of haemostatic variables involved in thrombosis and fibrinolysis. Thromb Haemost. 1997;78:457-461.
4. Di Minno G, Grandone E, Margaglione M. Clinical relevance of polymorphic markers of arterial thrombosis. Thromb Haemost. 1997;78: 462-466.
5. Ruiz A, Barbadilla A. The contribution of quantitative trait loci and neutral marker loci to the genetic variances and covariances among quantitative traits in randomly mating populations. Genetics. 1995;139: 445-455.
6. Hong H, Pederson NL, Egberg N, de Faire U. Genetic effects for plasma factor VII levels independent of and in common with triglycerides. Thromb Haemost. 1999;81:382-386.
7. Hennis BC, Van Boheemen PA, Koeleman BP, Boomsma DI, Engesser L, Van Wees AG, Novakova I, Brommer EJ, Kluft C. A specific allele of the histidine-rich glycoprotein (HRG) locus is linked with elevated plasma levels of HRG in a Dutch family with thrombosis. Br J Haematol. 1995;89:845-852.
8. Pankow JS, Folsom AR, Province MA, Rao DC, Williams RR, Eckfeldt J, Sellers TA. Segregation analysis of plasminogen activator inhibitor-1 and fibrinogen levels in the NHLBI Family Heart Study. Arterioscler Thromb Vasc Biol. 1998;18:1559-1567.
9. Almasy LA, Dyer TD, Blangero J. Bivariate quantitative trait linkage analysis: pleiotropy versus coincident linkage. Genet Epidemiol. 1997; 14:953-958.
10. Almasy L, Blangero J. Multipoint quantitative trait linkage analysis in general pedigrees. Am J Hum Genet. 1998;62:1198-1211.
11. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16:1215.
12. Clauss A. Gerinnungsphysiologische Schnellmethode zur Bestimmung des Fibrinogens. Acta Haematol. 1957;17:237-246.
13. Sandset PM, Larsen ML, Abilgaard U, Lindahl KA, Odergaard OR. Chromogenic substrate assay of extrinsic pathway inhibitor (EPI): levels of the normal population and relation to cholesterol. Blood Coagul Fibrinolysis. 1991;2:425-433.
14. Hyland K, Bottiglieri T. Measurement of total plasma and cerebrospinal fluid homocysteine by fluorescence following high-performance liquid chromatography and precolumn derivatization with o-phthaldialdehyde. J Chromatogr. 1992;79:55-62.
15. Beaty TH, Self SG, Liang KY, Connolly MA, Chase GA, Kwiterovich PO. Use of robust variance components models to analyse triglyceride data in families. Ann Hum Genet. 1985;49:315-328.
16. Self SA, Liang KY. Asymptotic properties of maximum likelihood estimators and likelihood ratio tests under nonstandard conditions. J Am Stat Assoc. 1987;82:605-610.
17. Mitchell BD, Kammerer CM, Blangero J, Mahaney MC, Rainwater DL, Dyke B, Hixson JE, Henkel RD, Sharp M, Comuzzie AG, Vandeberg JL, Stern MP, MacCluer JW. Genetic and environmental contributions to cardiovascular risk factors in Mexican Americans: the San Antonio Family Heart Study. Circulation. 1996;94:2159-2170.
18. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet. 1993;342:1503-1506.
19. Koster T, Rosendaal FR, Reitsma PH, van der Velden PA, Briet E, Vandenbroucke JP. Factor VII and fibrinogen levels as risk factors for venous thrombosis. Thromb Haemost. 1994;71:719-722.
20. Koster T, Blann AD, Briet E, Vandenbroucke JP, Rosendaal FR. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet. 1995;345:152-155.
21. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698-3703.
22. Den Heijer M, Koster T, Blom HJ, Bos GMJ, Briet E, Reitsma PH, Vandenbroucke JP, Rosendaal FR. Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med. 1996;334:759-762.
23. De Ronde H, Bertina RM. Laboratory diagnosis of APC-resistance: a critical evaluation of the test and the development of diagnostic criteria. Thromb Haemost. 1994;72:880-886.
24. Garcia-Gala JM, Alvarez V, Pinto CR, Soto I, Urgelles MF, Menendez MJ, Carracedo C, Lopez-Larrea C, Coto E. Factor V Leiden (R506Q) and risk of venous thromboembolism: a case-control study based on the Spanish population. Clin Genet. 1997;52:206-210.