Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

ABSTRACT: The involvement of genetic factors in the pathogenesis of KC has long been recognized but the identification of variants affecting the underlying protein functions has been challenging. In this study, we selected 34 candidate genes for KC based on previous whole-exome sequencing (WES) and the literature, and resequenced them in 745 KC patients and 810 ethnically matched controls from Belgium, France and Italy. Data analysis was performed using the single variant association test as well as gene-based mutation burden and variance components tests. In our study, we detected enrichment of genetic variation across multiple gene-based tests for the genes COL2A1, COL5A1, TNXB, and ZNF469. The top hit in the single variant association test was obtained for a common variant in the COL12A1 gene. Th

SUBMITTER: Fransen E 

PROVIDER: S-EPMC8633318 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature