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

• Published in: Egyptian Journal of Medical Human Genetics Vol. 22; no. 1; pp. 73 - 11
• Main Authors: Ng, Ker Hsin, Subrayan, Visvaraja, Ramachandran, Vasudevan, Ismail, Fazliana
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 15.09.2021; Springer; Springer Nature B.V; SpringerOpen
• Subjects: Analysis; Chromosome 14; Cornea; Corneal dystrophy; Endothelial corneal dystrophy; Endothelium; Fuchs; Genes; Genetic aspects; Genetic diversity; Genetic polymorphism; Health aspects; Illumina; Information management; Medical research; Medicine; Medicine & Public Health; Medicine, Experimental; Pathophysiology; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Malaysia; India; Illumina; Fuchs; Genetic polymorphism; Endothelial corneal dystrophy
• ISSN: 1110-8630; 2090-2441
• DOI: 10.1186/s43042-021-00193-6

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