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FGB  -  fibrinogen beta chain

Homo sapiens

 
 
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Disease relevance of FGB

 

High impact information on FGB

  • Each polypeptide is encoded by a distinct gene, FGA, FGB and FGG, all three clustered in a region of 50 kb on 4q31 [6].
  • These citrullinated proteins included the fibrin alpha-chain fragment, fibrin beta-chain, fibrinogen beta-chain precursor, fibrinogen D fragment, and the Spalpha (CD5 antigen-like protein) receptor [7].
  • Bcl I polymorphism in the fibrinogen beta-chain gene is associated with the risk of familial myocardial infarction by increasing plasma fibrinogen levels. A case-control study in a sample of GISSI-2 patients [8].
  • The effect of HRT, smoking and genetic variations in ESR1 (PvuII and XbaI), CRP (1444C/T) and fibrinogen-beta (FGB, -455G/A) were determined [9].
  • These findings, besides confirming and extending previous results regarding the effect of SF2/ASF on cryptic splice site activation, identify for the first time an enhancer sequence in the FGB gene specific for cryptic splice site usage [10].
 

Biological context of FGB

  • Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion [1].
  • The disease is caused by mutations in 1 of the 3 fibrinogen genes FGG, FGA, and FGB, clustered on the long arm of human chromosome 4 [11].
  • In this study, a young boy with afibrinogenemia was found to be a compound heterozygote for 2 mutations in FGB: an N-terminal nonsense mutation W47X (exon 2) and a missense mutation (G444S, exon 8) [1].
  • In stepwise analysis, a single FGB variant explained 1% of the residual variance in fibrinogen level, and 2 F7 SNPs together explained 10% of the residual variance in factor VII level [12].
  • The discrepancy in disequilibrium relationships among these closely linked RFLPs may indicate a region of increased recombination between the FGA and FGB RFLP loci [13].
 

Anatomical context of FGB

  • AIM: To determine the frequency of BclI polymorphism in the fibrinogen beta-chain gene (BclI betaFb) in young survivors of myocardial infraction (MI) and to assess the relationship between allele status, plasma fibrinogen concentration and the number of affected coronary arteries [3].
  • MATERIAL AND METHODS: We investigated 172 patients: 90 with physiological GB function (filling and emptying) (FGB), 21 with impaired GB function (prolonged filling and ejection fraction < 45%) and 61 with afunctional gallbladder (AGB) (without visualisation) [14].
 

Associations of FGB with chemical compounds

 

Other interactions of FGB

  • Coexpression of the FGB G444S mutant cDNA in combination with wild-type FGA and FGG cDNAs demonstrated that fibrinogen molecules containing the mutant beta chain are able to assemble but are not secreted into the media, confirming the pathogenic nature of the identified mutation [1].
  • NOS3 T-786C and FGB C-148T polymorphisms were associated with AMI (p<0.050) [19].
  • Analysis of the effect of multiple genetic variants of cardiovascular disease risk on insulin concentration variability in healthy adults of the STANISLAS cohort The role of FGB -455 G/A polymorphism [20].
  • AMI is associated with polymorphisms in the NOS3 and FGB but not in PAI-1 genes in young adults [19].
 

Analytical, diagnostic and therapeutic context of FGB

References

  1. Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. Vu, D., Bolton-Maggs, P.H., Parr, J.R., Morris, M.A., de Moerloose, P., Neerman-Arbez, M. Blood (2003) [Pubmed]
  2. Genetic variation in the fibrinogen gamma gene increases the risk for deep venous thrombosis by reducing plasma fibrinogen gamma' levels. Uitte de Willige, S., de Visser, M.C., Houwing-Duistermaat, J.J., Rosendaal, F.R., Vos, H.L., Bertina, R.M. Blood (2005) [Pubmed]
  3. Myocardial infarction in patients aged less than 40 years. Frequency of BclI polymorphism in the fibrinogen beta-chain gene and plasma fibrinogen. Lewandowski, K., Kwaśnikowski, P., Elikowski, W., Zawilska, K. Kardiologia polska. (2003) [Pubmed]
  4. An intronic mutation within FGB (IVS1+2076 a-->g) is associated with afibrinogenemia and recurrent transient ischemic attacks. Dear, A., Daly, J., Brennan, S.O., Tuckfield, A., George, P.M. J. Thromb. Haemost. (2006) [Pubmed]
  5. Characterization of a novel liver-specific enhancer in the human prothrombin gene. Chow, B.K., Ting, V., Tufaro, F., MacGillivray, R.T. J. Biol. Chem. (1991) [Pubmed]
  6. Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia. Vu, D., Di Sanza, C., Caille, D., de Moerloose, P., Scheib, H., Meda, P., Neerman-Arbez, M. Hum. Mol. Genet. (2005) [Pubmed]
  7. Association of citrullinated proteins with synovial exosomes. Skriner, K., Adolph, K., Jungblut, P.R., Burmester, G.R. Arthritis Rheum. (2006) [Pubmed]
  8. Bcl I polymorphism in the fibrinogen beta-chain gene is associated with the risk of familial myocardial infarction by increasing plasma fibrinogen levels. A case-control study in a sample of GISSI-2 patients. Zito, F., Di Castelnuovo, A., Amore, C., D'Orazio, A., Donati, M.B., Iacoviello, L. Arterioscler. Thromb. Vasc. Biol. (1997) [Pubmed]
  9. Genetic variation in estrogen receptor, C-reactive protein and fibrinogen does not predict the plasma levels of inflammation markers after longterm hormone replacement therapy. de Maat, M.P., Madsen, J.S., Langdahl, B., Bladbjerg, E.M., Tofteng, C.L., Abrahamsen, B., Rejnmark, L., Brixen, K., Christensen, K., Jespersen, J., Kristensen, S.R. Thromb. Haemost. (2007) [Pubmed]
  10. Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon. Spena, S., Tenchini, M.L., Buratti, E. RNA (2006) [Pubmed]
  11. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Neerman-Arbez, M., Germanos-Haddad, M., Tzanidakis, K., Vu, D., Deutsch, S., David, A., Morris, M.A., de Moerloose, P. Blood (2004) [Pubmed]
  12. Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease risk. Kathiresan, S., Yang, Q., Larson, M.G., Camargo, A.L., Tofler, G.H., Hirschhorn, J.N., Gabriel, S.B., O'Donnell, C.J. Arterioscler. Thromb. Vasc. Biol. (2006) [Pubmed]
  13. Linkage disequilibrium relationships among four polymorphisms within the human fibrinogen gene cluster. Baumann, R.E., Henschen, A.H. Hum. Genet. (1994) [Pubmed]
  14. The relationship between gallbladder motility and the presence of enterogastric reflux. Artiko, V.M., Chebib, H., Petrović, N., Petrović, M., Pesko, P., Ussov, W.Y., Obradović, V. Nuclear medicine review. Central & Eastern Europe : journal of Bulgarian, Czech, Macedonian, Polish, Romanian, Russian, Slovak, Yugoslav societies of nuclear medicine and Ukrainian Society of Radiology. (2002) [Pubmed]
  15. Proteomic study of plasma from moderate hypercholesterolemic patients. Alonso-Orgaz, S., Moreno, L., Macaya, C., Rico, L., Mateos-Cáceres, P.J., Sacristán, D., Pérez-Vizcaíno, F., Segura, A., Tamargo, J., López-Farré, A. J. Proteome Res. (2006) [Pubmed]
  16. Polymorphisms in prothrombotic genes and their impact on ischemic stroke in a Sardinian population. Rubattu, S., Di Angelantonio, E., Nitsch, D., Gigante, B., Zanda, B., Stanzione, R., Evangelista, A., Pirisi, A., Rosati, G., Volpe, M. Thromb. Haemost. (2005) [Pubmed]
  17. Effect of ciprofibrate on fibrinogen synthesis in vitro on hepatoma cells and in vivo in genetically obese Zucker rats. Herbert, J.M., Bernat, A., Chatenet-Duchène, L. Blood Coagul. Fibrinolysis (1999) [Pubmed]
  18. Amino acid sequence of the carboxy-terminal cyanogen bromide peptide of the human fibrinogen beta-chain: homology with the corresponding gamma-chain peptide and presence in fragment D. Takagi, T., Doolittle, R.F. Biochim. Biophys. Acta (1975) [Pubmed]
  19. AMI is associated with polymorphisms in the NOS3 and FGB but not in PAI-1 genes in young adults. Sampaio, M.F., Hirata, M.H., Hirata, R.D., Santos, F.C., Picciotti, R., Luchessi, A.D., Doi, S.d.e. .Q., Armaganijan, D., Batlouni, M. Clin. Chim. Acta (2007) [Pubmed]
  20. Analysis of the effect of multiple genetic variants of cardiovascular disease risk on insulin concentration variability in healthy adults of the STANISLAS cohort The role of FGB -455 G/A polymorphism. Maumus, S., Marie, B., Vincent-Viry, M., Siest, G., Visvikis-Siest, S. Atherosclerosis (2007) [Pubmed]
  21. Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Neerman-Arbez, M., Vu, D., Abu-Libdeh, B., Bouchardy, I., Morris, M.A. Blood (2003) [Pubmed]
  22. Elevated plasma levels of crosslinked fibrinogen gamma-chain dimer indicate cancer-related fibrin deposition and fibrinolysis. Gerner, C., Steinkellner, W., Holzmann, K., Gsur, A., Grimm, R., Ensinger, C., Obrist, P., Sauermann, G. Thromb. Haemost. (2001) [Pubmed]
 
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