Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes.

ABSTRACT: We determined differential gene expression in response to high glucose in lymphoblastoid cell lines derived from matched individuals with type 1 diabetes with and without retinopathy. Those genes exhibiting the largest difference in glucose response were assessed for association with diabetic retinopathy in a genome-wide association study meta-analysis. Expression quantitative trait loci (eQTLs) of the glucose response genes were tested for association with diabetic retinopathy. We detected an enrichment of the eQTLs from the glucose response genes among small association p-values and identified folliculin (FLCN) as a susceptibility gene for diabetic retinopathy. Expression of FLCN in response to glucose was greater in individuals with diabetic retinopathy. Independent cohort

SUBMITTER: Skol AD 

PROVIDER: S-EPMC7728435 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature