Multi-tissue transcriptome-wide association study identifies novel candidate susceptibility genes for cataract.

ABSTRACT:

Introduction

Cataract is the leading cause of blindness among the elderly worldwide. Twin and family studies support an important role for genetic factors in cataract susceptibility with heritability estimates up to 58%. To date, 55 loci for cataract have been identified by genome-wide association studies (GWAS), however, much work remains to identify the causal genes. Here, we conducted a transcriptome-wide association study (TWAS) of cataract to prioritize causal genes and identify novel ones, and examine the impact of their expression.

Methods

We performed tissue-specific and multi-tissue TWAS analyses to assess associations between imputed gene expression from 54 tissues (including 49 from the Genotype Tissue Expression (GTEx) Project v8) with cataract using FUSION softw

SUBMITTER: Choquet H 

PROVIDER: S-EPMC11182099 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature