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Factor VII polymorphisms in populations with different risks of cardiovascular disease.
Arterioscler Thromb Vasc Biol. 1997 Oct; 17(10):1918-23.AT

Abstract

Increased plasma factor VII coagulant activity (FVII:C) has been associated with the risk of ischemic heart disease (IHD). Differences in plasma FVII:C among individuals are associated with three common polymorphisms in the FVII gene. Therefore, we investigated FVII polymorphisms in four populations that differ in their risk of developing cardiovascular disease, namely, Europeans, Greenland Inuit, Gujarati Indians, and Afrocaribbeans. We studied (1) the promoter polymorphism, which is the result of a decanucleotide insertion in the FVII promoter at position -323 from the start of translation; (2) the hypervariable region 4 polymorphism (HVR4), which is the result of a variable number of tandem repeats in intron 7; and (3) the RQ353 polymorphism, a guanine-to-adenine substitution in the position of the codon for amino acid 353 resulting in an amino acid replacement of arginine (R) by glutamine (Q) in the FVII protein. The frequencies of these three polymorphisms and their linkage disequilibrium were different in the four populations studied. The frequencies of the alleles associated with higher plasma FVII:C were lower in the Europeans than in the Inuit, a population with a lower incidence of IHD. There was an association between both the promoter polymorphism and the RQ353 polymorphism and the plasma FVII:C in the Europeans, the Inuit, and the Gujarati Indians, and an association only between the RQ353 polymorphism and plasma FVII:C in the Afrocaribbeans. Only in the Inuit was the HVR4 polymorphism associated with plasma FVII:C. In multiple regression analysis, the additional information provided by the promoter polymorphism when the other polymorphisms were already included in the model was the most pronounced, suggesting that the promoter polymorphism may be the functional mutation having the greatest effect on determining plasma FVII:C.

Authors+Show Affiliations

Gaubius Laboratory TNO-PG, Leiden, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

9351354

Citation

de Maat, M P., et al. "Factor VII Polymorphisms in Populations With Different Risks of Cardiovascular Disease." Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 17, no. 10, 1997, pp. 1918-23.
de Maat MP, Green F, de Knijff P, et al. Factor VII polymorphisms in populations with different risks of cardiovascular disease. Arterioscler Thromb Vasc Biol. 1997;17(10):1918-23.
de Maat, M. P., Green, F., de Knijff, P., Jespersen, J., & Kluft, C. (1997). Factor VII polymorphisms in populations with different risks of cardiovascular disease. Arteriosclerosis, Thrombosis, and Vascular Biology, 17(10), 1918-23.
de Maat MP, et al. Factor VII Polymorphisms in Populations With Different Risks of Cardiovascular Disease. Arterioscler Thromb Vasc Biol. 1997;17(10):1918-23. PubMed PMID: 9351354.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Factor VII polymorphisms in populations with different risks of cardiovascular disease. AU - de Maat,M P, AU - Green,F, AU - de Knijff,P, AU - Jespersen,J, AU - Kluft,C, PY - 1997/11/14/pubmed PY - 1997/11/14/medline PY - 1997/11/14/entrez SP - 1918 EP - 23 JF - Arteriosclerosis, thrombosis, and vascular biology JO - Arterioscler Thromb Vasc Biol VL - 17 IS - 10 N2 - Increased plasma factor VII coagulant activity (FVII:C) has been associated with the risk of ischemic heart disease (IHD). Differences in plasma FVII:C among individuals are associated with three common polymorphisms in the FVII gene. Therefore, we investigated FVII polymorphisms in four populations that differ in their risk of developing cardiovascular disease, namely, Europeans, Greenland Inuit, Gujarati Indians, and Afrocaribbeans. We studied (1) the promoter polymorphism, which is the result of a decanucleotide insertion in the FVII promoter at position -323 from the start of translation; (2) the hypervariable region 4 polymorphism (HVR4), which is the result of a variable number of tandem repeats in intron 7; and (3) the RQ353 polymorphism, a guanine-to-adenine substitution in the position of the codon for amino acid 353 resulting in an amino acid replacement of arginine (R) by glutamine (Q) in the FVII protein. The frequencies of these three polymorphisms and their linkage disequilibrium were different in the four populations studied. The frequencies of the alleles associated with higher plasma FVII:C were lower in the Europeans than in the Inuit, a population with a lower incidence of IHD. There was an association between both the promoter polymorphism and the RQ353 polymorphism and the plasma FVII:C in the Europeans, the Inuit, and the Gujarati Indians, and an association only between the RQ353 polymorphism and plasma FVII:C in the Afrocaribbeans. Only in the Inuit was the HVR4 polymorphism associated with plasma FVII:C. In multiple regression analysis, the additional information provided by the promoter polymorphism when the other polymorphisms were already included in the model was the most pronounced, suggesting that the promoter polymorphism may be the functional mutation having the greatest effect on determining plasma FVII:C. SN - 1079-5642 UR - https://www.unboundmedicine.com/medline/citation/9351354/Factor_VII_polymorphisms_in_populations_with_different_risks_of_cardiovascular_disease_ L2 - https://www.ahajournals.org/doi/10.1161/01.atv.17.10.1918?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -