Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration.
Genetics
Molecular Genetics
Molecular Structure
Molecular biology
Molecular interaction
Journal
iScience
ISSN: 2589-0042
Titre abrégé: iScience
Pays: United States
ID NLM: 101724038
Informations de publication
Date de publication:
21 Apr 2023
21 Apr 2023
Historique:
received:
05
12
2022
revised:
20
02
2023
accepted:
11
03
2023
medline:
8
5
2023
pubmed:
8
5
2023
entrez:
8
5
2023
Statut:
epublish
Résumé
Genome-wide association studies have uncovered 52 independent common and rare variants across 34 genetic loci, which influence susceptibility to age related macular degeneration (AMD). Of the 5 AMD-associated complement genes, complement factor H (CFH) and CFI exhibit a significant rare variant burden implicating a major contribution of the complement pathway to disease pathology. However, the efforts for developing AMD therapy have been challenging as of yet. Here, we report the identification of ultra-rare variants in complement factors 8A and 8B, two components of the terminal complement membrane attack complex (MAC), by whole exome sequencing of a cohort of AMD families. The identified C8 variants impact local interactions among proteins of C8 triplex
Identifiants
pubmed: 37153444
doi: 10.1016/j.isci.2023.106417
pii: S2589-0042(23)00494-7
pmc: PMC10156737
doi:
Types de publication
Journal Article
Langues
eng
Pagination
106417Déclaration de conflit d'intérêts
The authors declare no competing interests.
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