TY - JOUR 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 SP - 582 LP - 589 DO - 10.1136/jmg.2005.038315 VL - 43 IS - 7 AU - M A Abrera-Abeleda AU - C Nishimura AU - J L H Smith AU - S Sethi AU - J L McRae AU - B F Murphy AU - G Silvestri AU - C Skerka AU - M Józsi AU - P F Zipfel AU - G S Hageman AU - R J H Smith Y1 - 2006/07/01 UR - http://jmg.bmj.com/content/43/7/582.abstract N2 - 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. ER -