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Yousefian A, Shokoohi-Rad S, Reza Abbaszadegan M, Morshedi Rad D, Zargari S, Milanizadeh S, Morovatdar N, Daneshvar R. Primary Angle Closure Glaucoma-associated Genetic Polymorphisms in Northeast Iran. JOVR [Internet]. 2020Feb.3 [cited 2024Apr.19];15(1):45–52. Available from: https://knepublishing.com/index.php/JOVR/article/view/5942
https://doi.org/10.18502/jovr.v15i1.5942
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authors
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Ali Yousefian
Ali Yousefian
Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
-
Saeed Shokoohi-Rad
Saeed Shokoohi-Rad
Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
-
Mohammad Reza Abbaszadegan
Mohammad Reza Abbaszadegan
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
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Dorsa Morshedi Rad
Dorsa Morshedi Rad
Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran
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Selma Zargari
Selma Zargari
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
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Saman Milanizadeh
Saman Milanizadeh
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
-
Negar Morovatdar
Negar Morovatdar
Clinical Research Unit, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
-
Ramin Daneshvar
Ramin Daneshvar
Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
Published Date
- Feb 3, 2020
Primary Angle Closure Glaucoma-associated Genetic Polymorphisms in Northeast Iran
Abstract
Purpose: To evaluate the association of five different polymorphisms from a genomewide- associated study with susceptibility to glaucoma in the northeast Iranian population.
Methods: Hundred and thirty patients with primary angle closure glaucoma (PACG) and 130 healthy controls were genotyped for the polymorphic regions with the aid of tetraamplification refractory mutation system-polymerase chain reaction. The association of these variants with the disease susceptibility was measured statistically with the logistic regression method.
Results: Hundred and thirty patients with PACG (53 males, 77 females) with a mean age of 64.5 ± 6.2 years and 130 healthy control subjects (51 males, 79 females) with a mean age of 64.0 ± 5.7 years were selected for evaluation. There was a significant association between rs3816415 (P = 0.005), rs736893 (P < 0.001), rs7494379 (P < 0.001), and rs1258267 (P = 0.02) with PACG susceptibility. This association could not be shown for rs3739821.
Conclusion: It was revealed that studied variants in GLIS3, EPDR1, FERMT2, and CHAT genes can contribute to the incidence of PACG. Additional studies in other populations are needed to evaluate DPM2-FAM102A.
Keywords:
Polymorphism, Primary Angle Closure Glaucoma, rs3816415, rs736893, rs7494379, rs1258267
References
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13. Lee Y, Song G. TNF-α-308 A/G and-238 A/G polymorphisms and susceptibility to glaucoma: a meta-analysis. Genet Mol Res 2015;14:4966–4977.
14. Westra H-J, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet 2013;45:1238.
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18. Nongpiur ME, Cheng CY, Duvesh R, Vijayan S, Baskaran M, Khor CC, et al. Evaluation of primary angle-closure glaucoma susceptibility loci in patients with early stages of angle-closure disease. Ophthalmology 2018;125:664–670.
19. Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
20. Zhuang W, Wang S, Hao J, Xu M, Chi H, Piao S, et al. Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China. PLOS ONE 2018;13:e0206935.
21. Shen Z, Ye Y, Kauttu T, Seppänen H, Vainionpää S, Wang S, et al., Novel focal adhesion protein kindlin-2 promotes the invasion of gastric cancer cells through phosphorylation of integrin β1 and β3. J Surg Oncol 2013;108:106–112.
22. Kim YS, Nakanishi G, Lewandoski M, Jetten AM. GLIS3, a novel member of the GLIS subfamily of Krüppel-like zinc finger proteins with repressor and activation functions. Nucleic Acids Res 2003;31:5513–5525.
23. Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet 2006;38:682.
24. Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet 2009;41:703.
25. Cho YS, Chen CH, Hu C, Long J, Ong RT, Sim X, et al. Metaanalysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet 2012;44:67.
26. Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010;42:105.
27. Wan Y, Li S, Gao Y, Tang L, Cao W, Sun X. COL11A1 polymorphisms are associated with primary angle-closure glaucoma severity. J Ophthalmol 2019;2019.
28. Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, et al. DPM2-CDG: a muscular dystrophy– dystroglycanopathy syndrome with severe epilepsy. Ann Neurol 2012;72:550–558.
29. Shi L, Zhao M, Luo Q, Ma YM, Zhong JL, Yuan XH, et al. Overexpression of PIP5KL1 suppresses cell proliferation and migration in human gastric cancer cells. Mol Biol Rep 2010;37:2189–2198.
2. Shastry BS. Genetic susceptibility to primary angle closure glaucoma (PACG). Discov Med 2013;15:17–22.
3. Cheng J-W, Zong Y, Zeng Y-Y, Wei R-L. The prevalence of primary angle closure glaucoma in adult Asians: a systematic review and meta-analysis. PLOS ONE 2014;9:e103222.
4. Tham Y-C, Li X, Wong TY, Quigley HA, Aung T, Cheng CY. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology 2014;121:2081–2090.
5. Chen M-S, Chang C-C, Lin C-P, Wang P-C, Lin L-R, Hou PK, et al. Role of vascular endothelial growth factor in the breakdown of the blood-aqueous barrier after retinal laser photocoagulation in pigmented rabbits. J Ocul Pharmacol Th 2012;28:83–88.
6. Quigley HA, Addicks EM, Green WR, Maumenee AE. Optic nerve damage in human glaucoma: II. The site of injury and susceptibility to damage. Arch Ophthalmol 1981;99:635–649.
7. Burgoyne CF, Downs JC, Bellezza AJ, Suh JK, Hart RT. The optic nerve head as a biomechanical structure: a new paradigm for understanding the role of IOP-related stress and strain in the pathophysiology of glaucomatous optic nerve head damage. Prog Retin Eye Res 2005;24:39–73.
8. Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, et al. COL18A1 is a candidate eye iridocorneal angleclosure gene in humans. Hum Mol Genet 2018;27:3772–3786.
9. Amerasinghe N, Zhang J, Thalamuthu A, He M, Vithana EN, Viswanathan A, et al. The heritability and sibling risk of angle closure in Asians. Ophthalmology 2011;118:480–485.
10. Sihota R, Ghate D, Mohan S, Gupta V, Pandey RM, Dada T. Study of biometric parameters in family members of primary angle closure glaucoma patients. Eye 2008;22:521.
11. Yazdani S, Akbarian S, Pakravan M, Afrouzifar M. Prevalence of angle closure in siblings of patients with primary angle-closure glaucoma. J Glaucoma 2015;24:149–153.
12. Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet 2016;48:556–562.
13. Lee Y, Song G. TNF-α-308 A/G and-238 A/G polymorphisms and susceptibility to glaucoma: a meta-analysis. Genet Mol Res 2015;14:4966–4977.
14. Westra H-J, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet 2013;45:1238.
15. Consortium G. The Genotype-Tissue Expression (GTEx) pilot analysis: multi-tissue gene regulation in humans. Science 2015;348:648–660.
16. Li Z, Khor CC. Current development in genome-wide association studies of glaucoma. Curr Ophthalmol Rep 2018;6:79–85.
17. Rong SS, Tang FY, Chu WK, Ma L, Yam JC, Tang SM, et al. Genetic associations of primary angle-closure disease: a systematic review and meta-analysis. Ophthalmology 2016;123:1211–1221.
18. Nongpiur ME, Cheng CY, Duvesh R, Vijayan S, Baskaran M, Khor CC, et al. Evaluation of primary angle-closure glaucoma susceptibility loci in patients with early stages of angle-closure disease. Ophthalmology 2018;125:664–670.
19. Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
20. Zhuang W, Wang S, Hao J, Xu M, Chi H, Piao S, et al. Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China. PLOS ONE 2018;13:e0206935.
21. Shen Z, Ye Y, Kauttu T, Seppänen H, Vainionpää S, Wang S, et al., Novel focal adhesion protein kindlin-2 promotes the invasion of gastric cancer cells through phosphorylation of integrin β1 and β3. J Surg Oncol 2013;108:106–112.
22. Kim YS, Nakanishi G, Lewandoski M, Jetten AM. GLIS3, a novel member of the GLIS subfamily of Krüppel-like zinc finger proteins with repressor and activation functions. Nucleic Acids Res 2003;31:5513–5525.
23. Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet 2006;38:682.
24. Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet 2009;41:703.
25. Cho YS, Chen CH, Hu C, Long J, Ong RT, Sim X, et al. Metaanalysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet 2012;44:67.
26. Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010;42:105.
27. Wan Y, Li S, Gao Y, Tang L, Cao W, Sun X. COL11A1 polymorphisms are associated with primary angle-closure glaucoma severity. J Ophthalmol 2019;2019.
28. Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, et al. DPM2-CDG: a muscular dystrophy– dystroglycanopathy syndrome with severe epilepsy. Ann Neurol 2012;72:550–558.
29. Shi L, Zhao M, Luo Q, Ma YM, Zhong JL, Yuan XH, et al. Overexpression of PIP5KL1 suppresses cell proliferation and migration in human gastric cancer cells. Mol Biol Rep 2010;37:2189–2198.