Article
Intergenic variants, rs1200114 and rs1200108 are genetically associated along with a decreased ATP1B1 expression in Fuchs Endothelial Corneal Dystrophy.
Experimental eye research - 1 Mar 2023
Chakraborty Maynak, Jandhyam Harithalakshmi, Basak Samar Kumar, Das Sujata, Alone Debasmita Pankaj
Abstract excerpt
Fuchs endothelial corneal dystrophy (FECD) is an age-related, bilateral corneal condition, characterized by apoptosis of the terminally differentiated endothelial cells. A genome-wide association study (GWAS) conducted in the European population in 2017, identified a new single nucleotide polymorphism (SNP), rs1200114 in the intergenic region between long intergenic non-protein coding RNA 970 (LINC00970) and...
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