Ethnicity is not biology: retinal pigment score to evaluate biological variability from ophthalmic imaging using machine learning.

ABSTRACT:

Background

Few metrics exist to describe phenotypic diversity within ophthalmic imaging datasets, with researchers often using ethnicity as an inappropriate marker for biological variability.

Methods

We derived a continuous, measured metric, the retinal pigment score (RPS), that quantifies the degree of pigmentation from a colour fundus photograph of the eye. RPS was validated using two large epidemiological studies with demographic and genetic data (UK Biobank and EPIC-Norfolk Study).

Findings

A genome-wide association study (GWAS) of RPS from UK Biobank identified 20 loci with known associations with skin, iris and hair pigmentation, of which 8 were replicated in the EPIC-Norfolk cohort. There was a strong association between RPS and ethnicity, however, there was su

SUBMITTER: Rajesh AE 

PROVIDER: S-EPMC10350142 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature