Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).

ABSTRACT:

Background

Chloroquine (CQ) and hydroxychloroquine (HCQ) are used to treat auto-immune related diseases such as rheumatoid arthritis (RA) or systemic lupus erythematosus. Both drugs however can cause retinal toxicity eventually leading to irreversible maculopathy and retinopathy. Established risk factors are duration and dosage of treatment while the involvement of genetic factors contributing to toxic maculopathy is largely unclear. To address the latter issue, this study aimed to expand on earlier efforts by (1) evaluating risk-altering variants known to be associated with age-related macular degeneration (AMD), a frequent maculopathy in individuals over 55 years of age, and (2) determining the contribution of genetic variants in the coding sequence of the ABCA4 gene.

Methods<

SUBMITTER: Grassmann F 

PROVIDER: S-EPMC4352241 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature