Factor H gene variants in Japanese: Its relation to atypical hemolytic uremic syndrome

Molecular Immunology

Volumn 49, Issue 1-2, 2011, Pages 48-55

  Mukai, Saki ^a   Hidaka, Yoshihiko ^b   Hirota Kawadobora, Masako ^a   Matsuda, Kazuyuki ^a   Fujihara, Noriko ^a   Takezawa, Yuka ^a   Kubota, Seiko ^a   Koike, Kenichi ^b   Honda, Takayuki ^a,b   Yamauchi, Kazuyoshi ^c  

^a SHINSHU UNIVERSITY HOSPITAL   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

Alternative complement pathway; Atypical hemolytic syndrome; Factor H; Genetic analysis; Hemolytic assay

Indexed keywords

COMPLEMENT FACTOR H; STEROID;

ADOLESCENT; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FEMALE; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC VARIABILITY; HEMODIALYSIS; HEMOLYSIS; HEMOLYTIC ANEMIA; HEMOLYTIC UREMIC SYNDROME; HUMAN; HYPERBILIRUBINEMIA; HYPOCOMPLEMENTEMIA; JAPANESE; KIDNEY FAILURE; MALE; ONSET AGE; PEDIGREE ANALYSIS; PLASMAPHERESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BLOOD LEVEL; SCHOOL CHILD; STEROID THERAPY; THROMBOCYTOPENIA;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; COMPLEMENT FACTOR H; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMOLYTIC-UREMIC SYNDROME; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; YOUNG ADULT;

EID: 84860391187     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2011.07.017     Document Type: Article

References (31)

1. Atkinson J.P., Liszewski M.K., Richards A., Kavanagh D., Moulton E.A. Hemolytic uremic syndrome: an example of insufficient complement regulation on self-tissue. Ann. N. Y. Acad. Sci. 2005, 1056:144-152.
2. Ault B.H. Factor H and the pathogenesis of renal diseases. Pediatr. Nephrol. 2000, 14:1045-1053.
3. Blackmore T.K., Hellwage J., Sadlon T.A., Higgs N., Zipfel P.F., Ward H.M., Gordon D.L. Identification of the second heparin-binding domain in human complement factor H. J. Immunol. 1998, 160:3342-3348.
4. Blom A.M., Bergström F., Edey M., Diaz-Torres M., Kavanagh D., Lampe A., Goodship J.A., Strain L., Moghal N., McHugh M., Inward C., Tomson C., Frémeaux-Bacchi V., Villoutreix B.O., Goodship T.H.J. A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity. J. Immunol. 2008, 180:6385-6391.
5. Caprioli J., Bettinaglio P., Zipfel P.F., Amadei B., Daina E., Gamba S., Skerka C., Marziliano N., Remuzzi G., Noris M. The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. J. Am. Soc. Nephrol. 2001, 12:297-307.
6. Caprioli J., Castelletti F., Bucchioni S., Bettinaglio P., Bresin E., Pianetti G., Gamba S., Brioschi S., Daina E., Remuzzi G., Noris M. Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Hum. Mol. Genet. 2003, 12:3385-3395.
7. Caprioli J., Noris M., Brioschi S., Pianetti G., Castelletti F., Bettinaglio P., Mele C., Bresin E., Cassis L., Gamba S., Porrati F., Bucchioni S., Monteferrante G., Fang C.J., Liszewski M.K., Kavanagh D., Atkinson J.P., Remuzzi G. For the international registry of recurrent and familial HUS/TTP Genetics of HUS: the impact of MCP CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 2006, 108:1267-1279.
8. Delvaeye M., Noris M., De Vriese A., Esmon C.T., Esmon N.L., Ferrell G., Del-Favero J., Plaisance S., Claes B., Lambrechts D., Zoja C., Remuzzi G., Conway E.M. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N. Engl. J. Med. 2009, 361:345-357.
9. Dragon-Durey M.A., Loirat C., Cloarec S., Macher M.A., Blouin J., Nivet H., Weiss L., Fridman W.H., Frémeaux-Bacchi V. Anti-factor H antibodies associated with atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 2005, 16:555-563.
10. Esparza-Gordillo J., Goicoechea de Jorge E., Buil A., Carreras-Berges L., López-Trascasa M., Sánchez-Corral P., Rodríguez de Córdoba S. Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum. Mol. Genet. 2005, 14:703-712.
11. Ferreira V.P., Pangburn M.K. Factor H mediated cell surface protection from complement is critical for the survival of PNH erythrocytes. Blood 2007, 110:2190-2192.
12. Józsi M., Strobel S., Dahse H.M., Liu W.S., Hoyer P.F., Oppermann M., Skerka C., Zipfel P.F. Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome. Blood 2007, 110:1516-1518.
13. Karmali M.A., Petric M., Lim C., Fleming P.C., Steele B.T. Escherichia coli cytotoxin, haemolytic-uraemic syndrome, and haemorrhagic colitis. Lancet 1983, 322:1299-1300.
14. Karmali M.A., Petric M., Lim C., Fleming P.C., Arbus G.S., Lior H. The association between idiopathic hemolytic uremic syndrome and infection by verotoxin-producing Escherichia coli. J. Infect. Dis. 1985, 151:775-782.
15. Kaplan B.S., Chesney R.W., Drummond K.N. Hemolytic uremic syndrome in families. N. Engl. J. Med. 1975, 292:1090-1093.
16. Kaplan B.S., Meyers K.E., Schulman S.L. The pathogenesis and treatment of hemolytic uremic syndrome. J. Am. Soc. Nephrol. 1998, 9:1126-1133.
17. Martínez-Barricarte R., Goicoechea de Jorge E., Montes T., Layana A.G., Rodríguez de Córdoba S. Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population. Clin. Exp. Immunol. 2008, 155:59-64.
18. Neumann H.P., Salzmann M., Bohnert-Iwan B., Mannuelian T., Skerka C., Lenk D., Bender B.U., Cybulla M., Riegler P., Königsrainer A., Neyer U., Bock A., Widmer U., Male D.A., Franke G., Zipfel P.F. Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. J. Med. Genet. 2003, 40:676-681.
19. Noris M., Remuzzi G. Atypical hemolytic-uremic syndrome. N. Engl. J. Med. 2009, 361:1676-1687.
20. Oppermann M., Baumgarten H., Brandt E., Gottsleben W., Kurts C., Götze O. Quantitation of components of the alternative pathway of complement (APC) by enzyme-linked immunosorbent assays. J. Immunol. Methods 1990, 133:181-190.
21. Pangburn M.K., Schreiber R.D., Müller-Eberhard H.J. Human complement C3b inactivator: isolation, characterization, and demonstration of an absolute requirement for the serum protein β1H for cleavage of C3b and C4b in solution. J. Exp. Med. 1977, 146:257-270.
22. Pangburn M.K. Cutting edge: localization of the host recognition functions of complement factor H at the carboxyl-terminal: implications for hemolytic uremic syndrome. J. Immunol. 2002, 169:4702-4706.
23. Richards A., Buddles M.R., Donne R.L., Kaplan B.S., Kirk E., Venning M.C., Tielemans C.L., Goodship J.A., Goodship T.H.J. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am. J. Hum. Genet. 2001, 68:485-490.
24. Rodríguez de Córdoba S., Esparza-Gordillo J., Goicoechea de Jorge E., Lopez-Trascasa M., Sánchez-Corral P. The human complement factor H: functional roles, genetic variations and disease associations. Mol. Immunol. 2004, 41:355-367.
25. Sánchez-Corral P., González-Rubio C., Rodríguez de Córdoba S., López-Trascasa M. Functional analysis in serum from atypical hemolytic uremic syndrome patients reveals impaired protection of host cells associated with mutations in factor H. Mol. Immunol. 2004, 41:81-84.
26. Sánchez-Corral P., Melgosa M. Advances in understanding the aetiology of atypical haemolytic uraemic syndrome. Br. J. Haematol. 2010, 150:529-542.
27. Saunders R.E., Goodship T.H.J., Zipfel P.F., Perkins S.J. An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations. Hum. Mutat. 2006, 27:21-30.
28. Scheiring J., Rosales A., Zimmerhackl L.B. Clinical practice Today's understanding of the haemolytic uraemic syndrome. Eur. J. Pediatr. 2010, 169:7-13.
29. Weiler J.M., Daha M.R., Austen K.F., Fearon D.T. Control of the amplification convertase of complement by the plasma protein β1H{dot operator} Proc. Natl. Acad. Sci. U. S. A. 1976, 73:3268-3272.
30. Whaley K., Ruddy S. Modulation of the alternative complement pathway by β1H globulin. J. Exp. Med. 1976, 144:1147-1163.
31. Zipfel P.F., Skerka C. FHL-1/reconectin: a human complement and immune regulator with cell-adhesive function. Immunol. Today 1999, 20:135-140.