Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein.

Abstract:

:Four novel polymorphisms were identified in the fibrinogen gene cluster. Three of them were localized in the promoter regions of the Aalpha-chain (alpha -128 C/G, alpha -58 G/A) or the gamma-chain (gamma -239 A/G) gene, while the remaining one was identified in intron 9 of the gamma-chain gene (gamma 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 alpha -128 C/G and gamma -239 A/G polymorphisms, association with plasma fibrinogen levels was investigated for only alpha -58 G/A and gamma 7792 C/T. We also investigated in the same population two previously identified polymorphisms in the fibrinogen gene cluster (alpha TaqI and beta -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.

journal_name

Thromb Res

journal_title

Thrombosis research

authors

Menegatti M,Asselta R,Duga S,Malcovati M,Bucciarelli P,Mannucci PM,Tenchini ML

doi

10.1016/s0049-3848(01)00329-2

subject

Has Abstract

pub_date

2001-08-15 00:00:00

pages

299-307

issue

4

eissn

0049-3848

issn

1879-2472

pii

S0049-3848(01)00329-2

journal_volume

103

pub_type

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