As the adoption of dense, disease-specific genotyping chips such as Immunochip (37; Immunobase, http://www.immunobase.org) increases, it is possible that the situation of single SNPs explaining two trait signals may become more common, implying that any formal colocalization test would become redundant.
In this review, we discuss how studying CFHR5 nephropathy can contribute to our understanding of the role of complement in kidney diseases such as dense deposit disease, C3 glomerulonephritis and atypical haemolytic uraemic syndrome.
Mutations and single nucleotide polymorphisms in the FH gene predispose to development of age-related macular degeneration, atypical haemolytic uraemic syndrome and dense deposit disease.
Mullins, R. F., Russell, S. R., Anderson, D. H. & Hageman, G. S. Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease.
Causes of alternative pathway dysregulation in dense deposit disease.
Pathology after eculizumab in dense deposit disease and C3 GN.
Allelic variants of complement genes associated with dense deposit disease.
Complement factor H-related hybrid protein deregulates complement in dense deposit disease.
However, in others, it seems that dense deposit disease may have predated the episode of APSGN.
Furthermore, exacerbation of urinary abnormalities in dense deposit disease has been associated with streptococcal infection.
» Barbour TD, Pickering MC, Terence Cook H. Dense deposit disease and C3 glomerulopathy.
