Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add more filters










Database
Language
Publication year range
2.
Sci Rep ; 10(1): 21093, 2020 12 03.
Article in English | MEDLINE | ID: mdl-33273512

ABSTRACT

The two most common genetic contributors to age-related macular degeneration (AMD), a leading cause of irreversible vision loss worldwide, are variants associated with CFH-CFHR5 on chromosome 1 (Chr1) and ARMS2/HTRA1 on chromosome 10 (Chr10). We sought to determine if risk and protective variants associated with these two loci drive differences in macular retinal thickness prior and subsequent to the onset of clinically observable signs of AMD. We considered 299 individuals (547 eyes) homozygous for risk variants or haplotypes on Chr1 or Chr10 exclusively (Chr1-risk and Chr10-risk, respectively) or homozygous for a neutral haplotype (Chr1-neu), for the protective I62 tagged haplotype (Chr1-prot-I62) or for the protection conferring CFHR1/3 deletion haplotype (Chr1-prot-del) on Chr1 without any risk alleles on Chr10. Among eyes with no clinically observable signs of AMD, the deletion of CFHR1/3, which is strongly protective against this disease, is associated with significantly thicker retinas in the perifovea. When controlling for age, Chr10-risk eyes with early or intermediate AMD have thinner retinas as compared to eyes from the Chr1-risk group with similar disease severity. Our analysis indicates that this difference likely results from distinct biological and disease initiation and progression events associated with Chr1- and Chr10-directed AMD.


Subject(s)
Chromosomes, Human, Pair 10/genetics , Chromosomes, Human, Pair 1/genetics , Macular Degeneration/genetics , Polymorphism, Single Nucleotide , Retina/diagnostic imaging , Aged , Aged, 80 and over , Complement Factor H/genetics , Complement System Proteins/genetics , Female , High-Temperature Requirement A Serine Peptidase 1/genetics , Humans , Macular Degeneration/diagnostic imaging , Male , Middle Aged , Proteins/genetics
SELECTION OF CITATIONS
SEARCH DETAIL
...