@article {Abrera-Abeleda582, author = {M A Abrera-Abeleda and C Nishimura and J L H Smith and S Sethi and J L McRae and B F Murphy and G Silvestri and C Skerka and M J{\'o}zsi and P F Zipfel and G S Hageman and R J H Smith}, title = {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)}, volume = {43}, number = {7}, pages = {582--589}, year = {2006}, doi = {10.1136/jmg.2005.038315}, publisher = {BMJ Publishing Group Ltd}, abstract = {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.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/43/7/582}, eprint = {https://jmg.bmj.com/content/43/7/582.full.pdf}, journal = {Journal of Medical Genetics} }