Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II …
MA Abrera-Abeleda, C Nishimura, JLH Smith… - Journal of medical …, 2006 - jmg.bmj.com
MA Abrera-Abeleda, C Nishimura, JLH Smith, S Sethi, JL McRae, BF Murphy, G Silvestri…
Journal of medical genetics, 2006•jmg.bmj.comIntroduction: 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 …
(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 …
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.
jmg.bmj.com