Relationship between copy number of genes (C4A, C4B) encoding the fourth component of complement and the clinical course of hereditary angioedema (HAE)

Molecular Immunology

Volumn 44, Issue 10, 2007, Pages 2667-2674

  Blaskó, Bernadett ^a   Széplaki, Gábor ^a   Varga, Lilian ^a   Ronai, Zsolt ^b   Prohászka, Zoltán ^a   Sasvari Szekely, Maria ^b   Visy, Beáta ^c   Farkas, Henriette ^a   Füst, George ^a,b  

^a SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^b SEMMELWEIS UNIVERSITY   (Hungary)

^c Heim Pál Childre's Hospital   (Hungary)

Author keywords

Complement C4; Copy number polymorphism; Copy number variation; HAE

Indexed keywords

COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C4A; COMPLEMENT COMPONENT C4B; DNA; ENZYME INHIBITOR;

ADOLESCENT; ADULT; ANGIONEUROTIC EDEMA; ARTICLE; CELLULAR DISTRIBUTION; CLINICAL PATHWAY; COMPLEMENT BLOOD LEVEL; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; MOLECULAR PHYLOGENY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ANGIONEUROTIC EDEMA; BLOOD; COMPLEMENT C4; COMPLEMENT C4A; COMPLEMENT C4B; FEMALE; GENE DOSAGE; HUMANS; MALE; MIDDLE AGED;

EID: 33846927763     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2006.12.007     Document Type: Article

References (28)

1. Agostoni A., Aygoren-Pursun E., Binkley K.E., Blanch A., Bork K., Bouillet L., Bucher C., Castaldo A.J., Cicardi M., Davis A.E., De Carolis C., Drouet C., Duponchel C., Farkas H., Fay K., Fekete B., Fischer B., Fontana L., Fust G., Giacomelli R., Groner A., Hack C.E., Harmat G., Jakenfelds J., Juers M., Kalmar L., Kaposi P.N., Karadi I., Kitzinger A., Kollar T., Kreuz W., Lakatos P., Longhurst H.J., Lopez-Trascasa M., Martinez-Saguer I., Monnier N., Nagy I., Nemeth E., Nielsen E.W., Nuijens J.H., O'Grady C., Pappalardo E., Penna V., Perricone C., Perricone R., Rauch U., Roche O., Rusicke E., Spath P.J., Szendei G., Takacs E., Tordai A., Truedsson L., Varga L., Visy B., Williams K., Zanichelli A., and Zingale L. Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J. Allergy Clin. Immunol. 114 (2004) S51-S131
2. Aitman T.J., Dong R., Vyse T.J., Norsworthy P.J., Johnson M.D., Smith J., Mangion J., Roberton-Lowe C., Marshall A.J., Petretto E., Hodges M.D., Bhangal G., Patel S.G., Sheehan-Rooney K., Duda M., Cook P.R., Evans D.J., Domin J., Flint J., Boyle J.J., Pusey C.D., and Cook H.T. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439 (2006) 851-855
3. Awdeh Z.L., and Alper C.A. Inherited structural polymorphism of the fourth component of human complement. Proc. Natl. Acad. Sci. USA 77 (1980) 3576-3580
4. Bork K., Barnstedt S.E., Koch P., and Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 356 (2000) 213-217
5. Bowen B., Hawk J.J., Sibunka S., Hovick S., and Weiler J.M. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin. Immunol. 98 (2001) 157-163
6. Cicardi M., Zingale L., Zanichelli A., Pappalardo E., and Cicardi B. C1 inhibitor: molecular and clinical aspects. Springer Semin. Immunopathol. 27 (2005) 286-298
7. Davis III A.E. The pathophysiology of hereditary angioedema. Clin. Immunol. 114 (2005) 3-9
8. Dodds A.W., Ren X.D., Willis A.C., and Law S.K. The reaction mechanism of the internal thioester in the human complement component C4. Nature 379 (1996) 177-179
9. Farkas H., Fust G., Fekete B., Karadi I., and Varga L. Eradication of Helicobacter pylori and improvement of hereditary angioneurotic oedema. Lancet 358 (2001) 1695-1696
10. Fellermann K., Stange D.E., Schaeffeler E., Schmalzl H., Wehkamp J., Bevins C.L., Reinisch W., Teml A., Schwab M., Lichter P., Radlwimmer B., and Stange E.F. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am. J. Hum. Genet. 79 (2006) 439-448
11. Fields T., Ghebrehiwet B., and Kaplan A.P. Kinin formation in hereditary angioedema plasma: evidence against kinin derivation from C2 and in support of "spontaneous" formation of bradykinin. J. Allergy Clin. Immunol. 72 (1983) 54-60
12. Gompels M.M., Lock R.J., Morgan J.E., Osborne J., Brown A., and Virgo P.F. A multicentre evaluation of the diagnostic efficiency of serological investigations for C1 inhibitor deficiency. J. Clin. Pathol. 55 (2002) 145-147
13. Gonzalez E., Kulkarni H., Bolivar H., Mangano A., Sanchez R., Catano G., Nibbs R.J., Freedman B.I., Quinones M.P., Bamshad M.J., Murthy K.K., Rovin B.H., Bradley W., Clark R.A., Anderson S.A., O'Connell R.J., Agan B.K., Ahuja S.S., Bologna R., Sen L., Dolan M.J., and Ahuja S.K. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307 (2005) 1434-1440
14. Isenman D.E., and Young J.R. The molecular basis for the difference in immune hemolysis activity of the Chido and Rodgers isotypes of human complement component C4. J. Immunol. 132 (1984) 3019-3027
15. Kalmar L., Bors A., Farkas H., Vas S., Fandl B., Varga L., Fust G., and Tordai A. Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. Hum. Mutat. 22 (2003) 498
16. Karim Y., Griffiths H., and Deacock S. Normal complement C4 values do not exclude hereditary angioedema. J. Clin. Pathol. 57 (2004) 213-214
17. Kramer J., Rajczy K., Hegyi L., Fl'p T., Mohcsi A., Mezei Z., Keltai M., Blasko G., Ferenczy E., Tuan N.A., and Fst G. C4B*Q0 allotype as a risk factor for myocardial infarction. BMJ 309 (1994) 313-314
18. Malfait F., Coucke P., Symoens S., Loeys B., Nuytinck L., and De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum. Mutat. 25 (2005) 28-37
19. Mayer M.M. Experimental Immunochemistry (1962), Thomas, Spreigfield Ill
20. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16 (1988) 1215
21. Sim E., and Cross S.J. Phenotyping of human complement component C4, a class-III HLA antigen. Biochem. J. 239 (1986) 763-767
22. Szilagyi A., Blasko B., Szilassy D., Fust G., Sasvari-Szekely M., and Ronai Z. Real-time PCR quantification of human complement C4A and C4B genes. BMC Genet. 7 (2006) 1
23. Vatay A., Yang Y., Chung E.K., Zhou B., Blanchong C.A., Kovacs M., Karadi I., Fust G., Romics L.L., Varga L., Yu C.Y., and Szalai C. Relationship between complement components C4A and C4B diversities and two TNFA promoter polymorphisms in two healthy Caucasian populations. Hum. Immunol. 64 (2003) 543-552
24. Wu Y.L., Higgins G.C., Rennebohm R.M., Chung E.K., Yang Y., Zhou B., Nagaraja H.N., Birmingham D.J., Rovin B.H., Hebert L.A., and Yu C.Y. Three distinct profiles of serum complement C4 proteins in pediatric systemic lupus erythematosus (SLE) patients: tight associations of complement C4 and C3 protein levels in SLE but not in healthy subjects. Adv. Exp. Med. Biol. 586 (2006) 227-247
25. Yang Y., Chung E.K., Zhou B., Blanchong C.A., Yu C.Y., Fust G., Kovacs M., Vatay A., Szalai C., Karadi I., and Varga L. Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities, and body mass index. J. Immunol. 171 (2003) 2734-2745
26. Yu C.Y. Molecular genetics of the human MHC complement gene cluster. Exp. Clin. Immunogenet. 15 (1998) 213-230
27. Yu C.Y., Chung E.K., Yang Y., Blanchong C.A., Jacobsen N., Saxena K., Yang Z., Miller W., Varga L., and Fust G. Dancing with complement C4 and the RP-C4-CYP21-TNX (RCCX) modules of the major histocompatibility complex. Prog. Nucleic Acid Res. Mol. Biol. 75 (2003) 217-292
28. Zweers M.C., van Vlijmen-Willems I.M., van Kuppevelt T.H., Mecham R.P., Steijlen P.M., Bristow J., and Schalkwijk J. Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J. Invest. Dermatol. 122 (2004) 885-891