Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

ABSTRACT: The implementation of next-generation sequencing technologies has provided a sharp picture of the genetic variability in the components and regulators of the alternative pathway (AP) of the complement system and has revealed the association of many AP variants with different rare and common diseases. An important finding that has emerged from these analyses is that each of these complement-related diseases associate with genetic variants altering specific aspects of the activation and regulation of the AP. These genotype-phenotype correlations have provided valuable insights into their pathogenic mechanisms with important diagnostic and therapeutic implications. While genetic variants in coding regions and structural variants are reasonably well characterized and occasionally have been ins

SUBMITTER: Rodriguez de Cordoba S 

PROVIDER: S-EPMC10086816 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature