Factor H genotype-phenotype correlations: Lessons from aHUS, MPGN II, and AMD

Kidney International

Volumn 70, Issue 1, 2006, Pages 12-13

  Goodship, T H J ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b INSTITUTE OF HUMAN GENETICS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; IMMUNOGLOBULIN G ANTIBODY;

ANIMAL EXPERIMENT; ANIMAL MODEL; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 1Q; COMPLEMENT ACTIVATION; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE DELETION; GENE EXPRESSION REGULATION; GENETIC COMPLEMENTATION; GENOTYPE; HEMOLYTIC UREMIC SYNDROME; HOMOZYGOSITY; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 33745711921     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5001612     Document Type: Note

References (10)

1. Richards A, Goodship JA, Goodship THJ. The genetics and pathogenesis of haemolytic uraemic syndrome and thrombotic thromboctyopenic purpura. Clin Opin Nephrol Hypertens 2002; 11: 431-435.
2. Appel GB, Cook HT, Hageman G et al. Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. J Am Soc Nephrol 2005; 16: 1392-1403.
3. Pickering MC, Cook HT, Warren J et al. Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. Nat Genet 2002; 31: 424-428.
4. Licht C, Heinen S, Józsi M et al. Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int 2006; 70: 42-50.
5. West CD. Nephritic factors predispose to chronic glomerulonephritis. Am J Kidney Dis 1994; 24: 956-963.
6. Spitzer RE, Stitzel AE, Tsokos G. On the origin of C3 nephritic factor (antibody to the alternative pathway C3-convertase): evidence for the Adam and Eve concept of autoantibody production. Clin Immunol Immunopathol 1992; 64: 177-183.
7. Hageman GS, Anderson DH, Johnson LV et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 2005; 102: 7227-7232.
8. Fremeaux-Bacchi V, Kemp EJ, Goodship JA et al. The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J Med Genet 2005; 42: 852-856.
9. Richards A, Kemp EJ, Liszewski MK et al. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci USA 2003; 100: 12966-12971.
10. Abrera-Abeleda MA, Nishimura C, Smith JLH et al. Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J Med Genet 2006 advance online publication, November 18 2005, doi: 10.1136/jmg.2005.038315.