Publication: Evaluation of genetic markers of LOXL1 and CACNA1A and their association with corneal thickness, pseudoexfoliation syndrome and pseudoexfoliation glaucoma in malays
Date
2021
Authors
Kamil, Muhammad Ikmal Mohamad
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Abstract
INTRODUCTION Pseudoexfoliation Syndrome (PEX) is an age-related systemic disorder of the extracellular matrix characterized by deposition of fibrillary material in the eye. Deposition of this material may obstruct the trabecular meshwork which leads to pseudoexfoliation glaucoma (PEXG). There is possibility that central corneal thickness (CCT) plays a role in conversion of PEX to PEXG. Perhaps, the interplay of genetics affects the CCT and increases the susceptibility of PEX and PEXG. PURPOSE To evaluate single nucleotide polymorphisms (SNPs) of rs3825942 of LOXL1 and rs4926244 of CACNA1A and their association with pseudoexfoliation syndrome (PEX), pseudoexfoliation glaucoma (PEXG), and central corneal thickness (CCT) in Malays. METHODS A case control study was conducted involving Malays with PEX (50), PEXG (52) and controls (50). CCT was measured using non-contact pachymetry. Venesection was conducted and genomic DNA was extracted using commercialize DNA extraction kit. Optimization of primer was conducted for rs3825942 and rs4926244. Polymerase chain reaction was performed, and the products were purified. DNA sequencer was used to identify the polymorphisms. Pearson’s chi-square, Mann-Whitney test and multiple logistic regression analysis were used to analyse the data. RESULTS rs4926244G and rs3825942G were significantly associated with PEX, which increased the risk of 2.6 folds (95%CI: 1.25, 5.37, p=0.015) and 4.3 folds (95%CI: 1.33, 17.52, p=0.017) respectively. There was significant difference of rs3825942G between Malay patients with PEXG and controls (p<0.001) but there was no significant difference with rs4926244G (p=0.243). CCT was significantly thinner in patients with PEXG (p=0.014). PEX patients with rs4926244G (p=0.038) and rs3825942G (p=0.029) showed significant thicker CCT. However, there was no significant association of both SNPs with CCT in patients with PEXG (p=0.089). CONCLUSION In this replication study, rs3825942G of LOXL1 and rs4926244G of CACNA1A are potential genetic markers for susceptibility of PEX and PEXG in Malays. These SNPs also has potential role in CCT of PEX patients. Identification of these genetic markers may perhaps help in early detection of pseudoexfoliation disease in Malays, in the future
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