RT Journal Article
SR Electronic
T1 Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (<em>CFHR5</em>) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 582
OP 589
DO 10.1136/jmg.2005.038315
VO 43
IS 7
A1 M A Abrera-Abeleda
A1 C Nishimura
A1 J L H Smith
A1 S Sethi
A1 J L McRae
A1 B F Murphy
A1 G Silvestri
A1 C Skerka
A1 M Józsi
A1 P F Zipfel
A1 G S Hageman
A1 R J H Smith
YR 2006
UL http://jmg.bmj.com/content/43/7/582.abstract
AB Introduction: Membranoproliferative glomerulonephritis type II or dense deposit disease (MPGN II/DDD) causes chronic renal dysfunction that progresses to end stage renal disease in about half of patients within 10 years of diagnosis. Deficiency of and mutations in the complement factor H (CFH) gene are associated with the development of MPGN II/DDD, suggesting that dysregulation of the alternative pathway of the complement cascade is important in disease pathophysiology. Subjects: Patients with MPGN II/DDD were studied to determine whether specific allele variants of CFH and CFHR5 segregate preferentially with the MPGN II/DDD disease phenotype. The control group was compromised of 131 people in whom age related macular degeneration had been excluded. Results: Allele frequencies of four single nucleotide polymorphisms in CFH and three in CFHR5 were significantly different between MPGN II/DDD patients and controls. Conclusion: We have identified specific allele variants of CFH and CFHR5 associated with the MPGN II/DDD disease phenotype. While our data can be interpreted to further implicate complement in the pathogenesis of MPGN II/DDD, these associations could also be unrelated to disease pathophysiology. Functional studies are required to resolve this question.