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Editorial
. 2023 Aug 23;8(10):1911-1913.
doi: 10.1016/j.ekir.2023.08.020. eCollection 2023 Oct.

Rare Variants in Complement Genes May Not Be That Rare After All

Sjoerd A M E G Timmermans  1   2 , Daan P C van Doorn  1   2 , Pieter van Paassen  1   2
Affiliations
Editorial

Rare Variants in Complement Genes May Not Be That Rare After All

Sjoerd A M E G Timmermans et al. Kidney Int Rep. .
No abstract available

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Figures

Figure 1
Figure 1
The multiple hit hypothesis of C-TMA. The onset of C-TMA depends on the genetic fingerprint and coexisting (or triggering) conditions. Rare variants in complement genes and, in particular, those classified as (likely) pathogenic, lower the threshold for the disease, whilst “common” variants, such as, CFH-H3, MCPggaac, and (perhaps) CFI c.1,246A>C, may affect the penetrance of disease. The green bar, orange bars, and red bars indicate wild type (WT), “common” variants in complement genes, and rare variants in complement genes, respectively.
See this image and copyright information in PMC

Comment on

  • doi: 10.1016/j.ekir.2023.07.027

References

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