Association of PDGFRA gene polymorphisms and early-onset myopia in South Sumatera, Indonesia
Keywords:
corneal curvature, early-onset myopia, early-onset myopia Indonesia, Indonesia, myopia, polymorphism, PDGFRA, SNP
Abstract
Purpose: Myopia is a refraction error that may caused by corneal curvature (CC) anomaly. Platelet-derived growth factor receptor alpha (PDGFRA) gene was determined to have an effect on CC. The purpose of this study was to find a correlation between single nucleotide polymorphisms (SNP) in PDGFRA gene and early-onset myopia in South Sumatera tribes, a part of Indonesian ethnic group.
Design: Using a random sampling method, population-based, case control study included 100 subjects aged 18-40 years from Palembang, South Sumatera, Indonesia.
Methods: Visual acuity was measured by Snellen chart and CC was measured by manual keratometer. DNA sample from buccal swab was investigated with Amplification Refractory Mutation System (ARMS) PCR and visualized in agarose gel.
Results: Median of CC for the right eye was 7.73 (7.07-8.63) mm and the left eye was 7.73 (7.04-8.69) mm. There was no difference between CC in myopic and normal subjects. Distribution of mutant allele in rs17084051, rs7677751, rs7682912, and rs2114039 were higher in myopic subject compare to those of normal control. Significant association between PDGFRA gene polymorphism and early-onset myopia was found only in rs17084051 (p = 0.009) and rs7677751 (p = 0.001).
Conclusions: Mutant type allele A of rs17084051 and mutant type allele T of rs7677751 of PDGFRA gene polymorphism are associated with early-onset myopia in South Sumatera tribes in this study.
References
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2. Handayani-Ariestanti T, Supradnya-Anom IGN, Pemayun-Dewayani CI. Characteristic of patients with refractive disorder at eye clinic of Sanglah General Hospital Denpasar, Bali, Indonesia, Period of 1st January-31st December 2011. Bali Medical Journal 2012;1:3:101-107. http://www.balimedicaljournal.org/index.php/bmj/article/view/23
3. Metlapally R, Ki CS, Li YJ, et al. Genetic association of Insulin-like Growth Factor-1 Polymorphisms with High-grade Myopia in an International Family Cohort. Invest Ophthalmol Vis Sci 2010;51(9):4476-4479. doi: 10.1167/iovs.09-4912.
4. Tang WC, Yap MKH, Yip SP. A review of current approaches to identifying human genes involved in myopia. Clin Exp Optom 2008;91(1):4-22. http://www.ncbi.nlm.nih.gov/pubmed/18045248
5. Zejmo M, Forminska-Kapuscik M, Pieczara E, et al. Etiopathogenesis and management of high-degree myopia. Part I. Med Sci Monit 2009;15(9):RA199-202. http://www.ncbi.nlm.nih.gov/ pubmed/19721411
6. Carney LG, Mainstone JC, Henderson BA. Corneal Topography and myopia: A Cross sectional study. Invest Ophthalmol Vis Sci 1997;38(2):311-320. http://www.ncbi.nlm.nih.gov/pubmed/9040463
7. Guggenheim JA, McMahon G, Kemp JP, et al. A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha genes as a quantitative trait locus for eye size in white Europeans. Mol Vis 2013;19:243-253. http://www.ncbi.nlm.nih.gov/pubmed/23401653
8. Read SA, Collins MJ, Carney LG. A review of astigmatism and its possible genesis. Clin Exp Optom 2007; 90(1):5-19. http://www.ncbi.nlm.nih.gov/pubmed/17177660
9. Jiang B, Yap MK, Leung KH, et al. PAX6 haplotypes are associated with high myopia in Han Chinese.
PloS One 2011;6(5):e19587. doi: 10.1371/journal.pone.0019587.
10. Miyake M, Yamashiro K, Nakanishi H, et al. Association of paired box 6 with high myopia in Japanese. Mol Vis 2012;18:2726-2735. http://www.ncbi.nlm.nih.gov/pubmed/23213273
11. Guo H, Tong P, Liu Y, et al. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. Genet Med 2015;17(4):300-306. doi: 10.1038/gim.2015.28.
12. Jiang D, Li J, Xiao X, et al. Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. Invest Ophthalmol Vis Sci 2015;56(1):339-345. doi: 10.1167/iovs.14-14850.
13. Yoshikawa M, Yamashiro K, Miyake M, et al. Comprehensive replication of the relationship between myopia-related genes and refractive errors in a large Japanese cohort. Invest Ophthalmol Vis Sci 2014;55(11):7343-7354. doi: 10.1167/iovs.14-15105.
14. Han S, Chen P, Fan Q, et al. Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. Hum Mol Genet 2011;20(18):3693-3698. doi: 10.1093/hmg/ddr269.
15. Mishra A, Yazar S, Hewitt AW, et al. Genetic variants near PDGFRA are associated with corneal curvature in Australians. Invest Ophthalmol Vis Sci 2012;53(11):7131-7136. doi: 10.1167/iovs.12-10489.
16. Fan DS, Lam DS, Lam RF, et al. Prevalence, Incidence, and Progression of Myopia of School Children in Hong Kong. Invest Ophthalmol Vis Sci 2004;45(4):1071-1075. http://www.ncbi.nlm.nih.gov/ pubmed/15037570
17. Hoppenreijs VP, Pels E, Vrensen GF, Felten PC, Treffers WF. Platelet-Derived Growth Factor: Receptor Expression in Corneas and Effect on Corneal Cells. Invest Ophthalmol Vis Sci 1993;34(3):637-649. http://www.ncbi.nlm.nih.gov/pubmed/8449682
18. Xu L, Wang YX, Guo Y, You QS, Jonas JB; the Beijing Eye Study Group. Prevalence and Associations of Steep Cornea/Keratoconus in Greater Beijing. The Beijing Eye Study. PLos ONE 2012;7(7):e39313. doi:10.1371/journal.pone.0039313
19. Saw SM, Chua WH, Hong CY, et al. Nearwork in Early-onset Myopia. Invest Ophthalmol Vis Sci 2002; 43:2: 332-339. http://www.ncbi.nlm.nih.gov/pubmed/11818374
20. Zhang YY, Jiang WJ, Teng ZE, et al. Corneal curvature radius and associated factors in Chinese children: The Shandong Children Eye Study. PLOS ONE 2015;10(2): e0117481. doi: 10.1371/journal.pone.0117481.
21. Atchison DA, Markwell EL, Kasthurirangan S, Pope JM, Smith G, Swann PG. Age-Related Changes in Optical and Biometric Characteristics of Emmetropic Eyes. J Vis 2008;8(4):29:1-20. doi:10.1167/8.4.29.
22. Lin LL, Shih YF, Hsiao CK, Chen CJ, Lee LA, Hung PT.vEpidemiologic study of the prevalence and severity of myopia among school children in Taiwan in 2000. J Formos Med Assoc 2001;100(10):684-691. http://www.ncbi.nlm.nih.gov/pubmed/11760374
23. Iyamu E, Osuobeni E. Age, gender, corneal diameter, corneal curvature and central corneal thickness in Nigerians with normal intra ocular pressure. J Optom 2012;5:87-97. doi: 10.1016/j.optom.2012.02.001
24. Ocular Tissue Database. Cited on 14th June, 2015. Available from: https://genome.uiowa.edu/otdb/
search?term=pdgfra&type=symbol&level=core
25. Andrae J, Gallini R, Betsholtz C. Role of Platelet-Derived Growth Factors in Physiology and Medicine. Genes Dev 2008;22(10):1276-1312. doi: 10.1101/gad.1653708.
26. Fan Q, Zhou X, Khor CC, et al. Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism. PLoS Genet 2011:7(12):e1002402. doi:10.1371/journal.pgen.1002402
27. Yazar S, Mishra A, Ang W, et al. Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: Results of a genome-wide association study. Mol Vis 2013;19:1238-1246. http://www.ncbi.nlm.nih.gov/pubmed/23761726
Published
2017-12-05
How to Cite
Purwoko, M., Reki, W., & Winarni, T. (2017). Association of PDGFRA gene polymorphisms and early-onset myopia in South Sumatera, Indonesia. Asian Journal of Ophthalmology, 15(4). https://doi.org/10.35119/asjoo.v15i4.276
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