Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration.

ABSTRACT:

Purpose

To select individuals and families with a low genetic burden for age-related macular degeneration (AMD), to inform the clinical diagnosis of macular disorders, and to find novel genetic variants associated with maculopathies.

Design

Genetic association study based on targeted and whole-exome sequencing.

Participants

A total of 758 subjects (481 individuals with maculopathy and 277 controls), including 316 individuals in 72 families.

Methods

We focused on 150 genes involved in the complement, coagulation, and inflammatory pathways. Single-variant tests were performed on 7755 variants shared among ≥ 5 subjects using logistic regression. Gene-based tests were used to evaluate aggregate effects from rare and low-frequency variants (at minor allele frequency

SUBMITTER: Huan T 

PROVIDER: S-EPMC9574715 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature