Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
age-related macular degeneration
complement factor I
factor I
geographic atrophy
reticular pseudodrusen
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
revised:
09
05
2021
received:
08
02
2021
accepted:
13
06
2021
pubmed:
22
6
2021
medline:
1
4
2022
entrez:
21
6
2021
Statut:
ppublish
Résumé
Rare variants in the complement factor I (CFI) gene, associated with low serum factor I (FI) levels, are strong risk factors for developing the advanced stages of age-related macular degeneration (AMD). No studies have been undertaken on the prevalence of disease-causing CFI mutations in patients with geographic atrophy (GA) secondary to AMD. A multicenter, cross-sectional, noninterventional study was undertaken to identify the prevalence of pathogenic rare CFI gene variants in an unselected cohort of patients with GA and low FI levels. A genotype-phenotype study was performed. Four hundred and sixty-eight patients with GA secondary to AMD were recruited to the study, and 19.4% (n = 91) demonstrated a low serum FI concentration (below 15.6 μg/ml). CFI gene sequencing on these patients resulted in the detection of rare CFI variants in 4.7% (n = 22) of recruited patients. The prevalence of CFI variants in patients with low serum FI levels and GA was 25%. Of the total patients recruited, 3.2% (n = 15) expressed a CFI variant classified as pathogenic or likely pathogenic. The presence of reticular pseudodrusen was detected in all patients with pathogenic CFI gene variants. Patients with pathogenic CFI gene variants and low serum FI levels might be suitable for FI supplementation in therapeutic trials.
Identifiants
pubmed: 34153144
doi: 10.1002/humu.24242
pmc: PMC9290714
doi:
Substances chimiques
Complement Factor I
EC 3.4.21.45
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1139-1152Informations de copyright
© 2021 The Authors. Human Mutation published by Wiley Periodicals LLC.
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