Abstract
Purpose
Pseudoexfoliation syndrome (PEX) is a late onset disorder of extracellular matrix turnover, associated systemically with cardiovascular and cerebrovascular disease. To evaluate the suggested association of polymorphisms of homocysteine metabolism genes MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) with PEX.
Methods
A case–control association study was undertaken, comprising a total of 1472 individuals including 860 unrelated PEX cases and 612 ethnic-matched cataract controls (CC). All the study subjects were genotyped for three SNPs using the TaqMan allelic discrimination assay. Association and statistical analysis were performed with PLINK 1.07 and STATA 11.1.
Results
Among the three SNPs genotyped, MTHFR polymorphisms did not exhibit significant association with PEX (rs1801131; p = 0.549, rs1801133; p = 0.408). The intronic SNP rs8006686 showed nearly significant association (p = 0.069), and however did not remain significant after Bonferroni correction.
Conclusion
Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients.
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Acknowledgements
The authors thank all the patients for their kind cooperation in this study. We like to express our gratitude to Mr. Vijayakumar, Biostatistician, Aravind Eye Hospital for his assistance on statistical analysis. We also thank Mr. Saravanan, Senior Technician and lab coordinators: Mrs. Kalarani, Mrs. Muthuselvi for their kind help during genotyping experiment and sample collection, respectively.
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The authors declare no financial or proprietary interest in any of the methods or materials discussed in this manuscript.
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All the procedures performed in this study involving human participants were in accordance with the ethical standards of the Institutionary Ethics Committee of Aravind Eye Hospital and with 1964 Helsinki Declaration and its amendments or comparable ethical standards.
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This study was financially supported by the Alcon APEX-Aravind Eye Hospital project.
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Written informed consent was obtained from all the individual participants included in this study.
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Gopalakrishnan, P., Haripriya, A. & Sundaresan, P. MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population. Int Ophthalmol 38, 599–606 (2018). https://doi.org/10.1007/s10792-017-0498-2
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DOI: https://doi.org/10.1007/s10792-017-0498-2