Abstract
Purpose :
The aim of this project is the search of related genetic mutations of keratoconus. Previous results were published by our research group, where 37 genes directly related to this ectasia were proposed (Gomez, Lopez, el tal. 2019). This research was continued and the updates are presented here.
Methods :
Via a bioinformatic approach using the Pubterm tool, we searched and curated genes and abstracts associated with keratoconus; afterwards, these publications were analyzed in order to classify the genetic alterations into those with evidence of functional variant, and those with other evidence of genetic alterations. Finally, a functional analysis was made according to the signaling pathway implied for each gene.
Results :
405 abstracts were retrieved mentioning 304 relevant genes. After exclusion of non-human genes and those without genetic variants, 74 genes remained. Of these, 25 had evidence of functional variant, including 13 new genes in comparison to the previous publication; such as: VANGL1, miR-184 and FLG. The remaining 49 genes stand for other evidence of genetic alterations including 23 new genes, such as: SOD1 and ADAMTS8. A total of 36 new genes were retrieved. Genes were grouped according to the relevant molecular pathways in which they are involved: Immune regulation, apoptosis, transcription factors, signaling pathways, collagen and cytoskeleton properties. The following genes have the most citations: VSX1, COL4A,TGFB1, miR-184, DOCK9, FLG and ZEB1.
Conclusions :
After retrieving these genes and performing a functional analysis, the findings exhibited that different genes from multiple molecular pathways may be involved in keratoconus pathophysiology. These genes could be contemplated for screening purposes as risk factors analysis for Keratoconus; nevertheless, differences across ethnic groups need to be taken into account on a case by case basis.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.