Mutations in MERTK are not associated with age-related macular degeneration.

ABSTRACT:

Purpose

To assess whether mutations in Mer tyrosine kinase (MERTK) are associated with age-related macular degeneration (AMD).

Methods

An association study using whole-genome sequencing was performed to determine whether rare variants in MERTK are associated with AMD. The data set included 4787 propensity score-matched case-control samples: 2394 AMD cases and 2393 controls. Whole-genome sequencing was performed and variants in MERTK were identified. Combined annotation-dependent depletion (CADD) scores and allele frequencies were calculated for each variant identified in MERTK. Student's t-test was used to assess the mean number of MERTK variants per subject between case and control cohorts (Bonferroni adjusted α = 0.0125). The number of subjects carrying at least one high C

SUBMITTER: Al-Khersan H 

PROVIDER: S-EPMC6092259 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature