McComish BJ, Sahebjada S, Bykhovskaya Y, et al. - In this case-control genome-wide association study of a discovery cohort and three independent replication cohorts, researchers identified genetic susceptibility regions for keratoconus in the human genome. This investigation was carried out with data from eye clinics in Australia, the United States, and Northern Ireland. Using logistic regression after adjusting for ancestry using the first 3 principal components, connections between keratoconus and 6,252,612 genetic variants were estimated. The discovery cohort involved 522 affected people and 655 control candidates, while the replication cohorts involved 818 affected people and 3,858 control candidates. A locus containing multiple variants across 6 protein-coding genes on chromosome 11 was linked to keratoconus. Several of these genes are probably included in apoptotic pathways. This research of patients with keratoconus and control candidates exhibited a potential role of genes involved in apoptotic pathways. They found a genome-wide significant locus for keratoconus in the region of PNPLA2 on chromosome 11.