Identification of four novel polymorphisms in the Aα and γ fibrinogen genes and analysis of association with plasma levels of the protein

M. Menegatti, R. Asselta, S. Duga, M. Malcovati, P. Bucciarelli, P. M. Mannucci, M. L. Tenchini

Research output: Contribution to journalArticle

Abstract

Four novel polymorphisms were identified in the fibrinogen gene cluster. Three of them were localized in the promoter regions of the Aα-chain (α -128 C/G, α -58 G/A) or the γ-chain (γ -239 A/G) gene, while the remaining one was identified in intron 9 of the γ-chain gene (γ 7792 C/T). Genotype distributions for these polymorphisms were analyzed in 200 healthy Italian individuals and were in Hardy-Weinberg equilibrium. Since high levels of plasma fibrinogen have been associated with an increased risk of cardiovascular disease and genetic variations have been evaluated as thrombotic risk predictors, we analyzed their role in determining the plasma levels of this protein. Owing to the low frequency of the rare allele of α -128 C/G and γ -239 A/G polymorphisms, association with plasma fibrinogen levels was investigated for only α -58 G/A and γ 7792 C/T. We also investigated in the same population two previously identified polymorphisms in the fibrinogen gene cluster (α TaqI and β -455 G/A) chosen for their widely studied association with plasma fibrinogen levels. In the multivariate linear regression analysis, no statistically significant association with plasma fibrinogen levels was found.

Original languageEnglish
Pages (from-to)299-307
Number of pages9
JournalThrombosis Research
Volume103
Issue number4
DOIs
Publication statusPublished - Aug 15 2001

Fingerprint

Fibrinogen
Blood Proteins
Genes
Multigene Family
Genetic Promoter Regions
Gene Frequency
Introns
Linear Models
Cardiovascular Diseases
Genotype
Regression Analysis
Population

Keywords

  • Cardiovascular disease
  • DNA polymorphism
  • Fibrinogen
  • Fibrinogen gene cluster
  • Vascular risk marker

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Hematology

Cite this

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abstract = "Four novel polymorphisms were identified in the fibrinogen gene cluster. Three of them were localized in the promoter regions of the Aα-chain (α -128 C/G, α -58 G/A) or the γ-chain (γ -239 A/G) gene, while the remaining one was identified in intron 9 of the γ-chain gene (γ 7792 C/T). Genotype distributions for these polymorphisms were analyzed in 200 healthy Italian individuals and were in Hardy-Weinberg equilibrium. Since high levels of plasma fibrinogen have been associated with an increased risk of cardiovascular disease and genetic variations have been evaluated as thrombotic risk predictors, we analyzed their role in determining the plasma levels of this protein. Owing to the low frequency of the rare allele of α -128 C/G and γ -239 A/G polymorphisms, association with plasma fibrinogen levels was investigated for only α -58 G/A and γ 7792 C/T. We also investigated in the same population two previously identified polymorphisms in the fibrinogen gene cluster (α TaqI and β -455 G/A) chosen for their widely studied association with plasma fibrinogen levels. In the multivariate linear regression analysis, no statistically significant association with plasma fibrinogen levels was found.",
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AU - Menegatti, M.

AU - Asselta, R.

AU - Duga, S.

AU - Malcovati, M.

AU - Bucciarelli, P.

AU - Mannucci, P. M.

AU - Tenchini, M. L.

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