Screening of single nucleotide polymorphisms among fuchs’ endothelial corneal dystrophy subjects in Malaysia

Abstract Background The pathophysiology underlying Fuchs' Endothelial Corneal Dystrophy (FECD), especially in older individuals, remains unclear, with a genetic predisposition being reported as the single best predictor of disease. Genetic studies have shown that several genes various loci such COL8A2, SLC4A11, TCF8/ZEB1 and TCF4 are associated FECD different populations ethnicities. A case–control study was conducted to determine association between variants tertiary care setting Malaysia. total number 12 patients clinically diagnosed age, gender race matched control subjects were recruited. Extracted genomic DNA genotyped using Infinium Global Screening Array (GSA)-24 version 1.0 BeadChip iScan high-throughput system. Illumina GenomeStudio 2.0 Data Analysis PLINK 1.9 software used perform tests distribution obtained among cases controls. Results significant novel variant, rs11626651 , variant LOC105370676 gene or known LINC02320 gene, located at chromosome 14, has been identified suggestive ( p < 5 × 10 −6 ). Further analysis this suggested candidate ZEB1/TCF8, SLC4A11 had no associations FECD. Conclusions discovery may influence pathogenic basis current is first on use GSA. It comprehensive report Malaysia provide information potential relevance FECD, which pave way for new therapeutic strategies future. detailed larger sample size recommended further evaluation.