Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin's family by multi-omics analysis.

ABSTRACT:

Background

Keratoconus (KC) is a common, degenerative disorder of the cornea, and genetic factors play a key role in its development. However, the genetic etiology of KC is still unclear. This study used the family of twins as material, using, for the first time, multi-omics analysis, to systematically display the changes in KC candidate factors in patients at the DNA, RNA, and protein levels. These can evaluate candidate pathogenic factors in depth and lock onto pathogenic targets.

Results

The twins in this study presented classic phenotypes, clear diagnoses, complete case data, and clinical samples, which are excellent materials for genetically studying KC. Whole-exome sequencing was conducted on both the twins and their parents. Transcriptome sequencing was conducted on p

SUBMITTER: Hao XD 

PROVIDER: S-EPMC7457807 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature