The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia

References

• Tham Y-C, Li X, Wong TY, Quigley HA, Aung T, Cheng C-Y.Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology. 2014;121(11):2081–90.doi:https://doi.org/10.1016/j.ophtha.2014.05.013.
   PubMed Web of Science ®Google Scholar
• Resnikoff S, Pascolini D, Etya’ale D, Kocur I, Pararajasegaram R, Pokharel GP. Global data on visual impairment in the year 2002. Bull World Health Organ. 2004;82:844–51.
   PubMed Web of Science ®Google Scholar
• Grzybowski A, Och M, Kanclerz P, Leffler C, Moraes CG. Primary open angle glaucoma and vascular risk factors: a review of population-based studies from 1990 to 2019. J Clin Med. 2020;9:761.
   Web of Science ®Google Scholar
• Rasmussen CA, Kaufman PL. The trabecular meshwork in normal eyes and in exfoliation glaucoma. J Glaucoma. 2014;23:S15–9.
   PubMedGoogle Scholar
• Ritch R. The management of exfoliative glaucoma. Prog Brain Res. 2008;173:211–24.
   PubMed Web of Science ®Google Scholar
• Liu Y, Allingham RR. Molecular genetics in glaucoma. Exp Eye Res. 2011;93:331–39.
   PubMed Web of Science ®Google Scholar
• Aboobakar IF, Allingham RR. Genetics of exfoliation syndrome and glaucoma. Int Ophthalmol Clin. 2014;54:43–56.
   PubMedGoogle Scholar
• Burdon KP, Macgregor S, Hewitt AW, Sharma S, Chidlow G, Mills RA, Danoy P, Casson R, Viswanathan AC, Liu JZ, et al. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet. 2011;43:574–78.
   PubMed Web of Science ®Google Scholar
• Osman W, Low SK, Takahashi A, Kubo M, Nakamura Y. A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. Hum Mol Genet. 2012;21:2836–42.
   PubMed Web of Science ®Google Scholar
• Nakano M, Ikeda Y, Tokuda Y, Fuwa M, Omi N, Ueno M, Imai K, Adachi H, Kageyama M, Mori K, et al. Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese. PLoS One. 2012;7(3):e33389.doi:https://doi.org/10.1371/journal.pone.0033389.
   PubMed Web of Science ®Google Scholar
• Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, Olson LM, Abdrabou W, Fan BJ, Wang DY, Brodeur W, et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet. 2012;8:e1002654.
   PubMed Web of Science ®Google Scholar
• Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, Law MH, Cremin K, Bailey JNC, Loomis SJ, et al. Common variants near ABCA1,AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014;10:1120–25.
   Web of Science ®Google Scholar
• Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen LJ, Kee C, Garway-Heath DF, et al. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015;24:3880–92.
   PubMed Web of Science ®Google Scholar
• Shiga Y, Akiyama M, Nishiguchi KM, Sato K, Shimozawa N, Takahashi A, Momozawa Y, Hirata M, Matsuda K, Yamaji T, et al. Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. Hum Mol Genet. 2018;27:1486–96.
   PubMed Web of Science ®Google Scholar
• Ramdas WD, van Koolwijk LM, Ikram MK, Jansonius NM, de Jong PT, Bergen AA, Isaacs A, Amin N, Aulchenko YS, Wolfs RC, et al. A genome-wide association study of optic disc parameters. PLoS Genet. 2010;6:e1000978.
   PubMed Web of Science ®Google Scholar
• Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, et al. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014;5:4883.
   PubMed Web of Science ®Google Scholar
• Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Höhn R, Khor CC, Cooke Bailey JN, Luo X, Ramdas WD, Vithana E, et al. Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology. Genet Epidemiol. 2015;39:207–16.
   PubMed Web of Science ®Google Scholar
• Springelkamp H, Iglesias AI, Mishra A, Höhn R, Wojciechowski R, Khawaja AP, Nag A, Wang YX, Wang JJ, Cuellar-Partida G, et al. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. Hum Mol Genet. 2017;26:438–53.
   PubMed Web of Science ®Google Scholar
• Pasquale LR, Loomis SJ, Kang JH, Yaspan BL, Abdrabou W, Budenz DL, Chen TC, Delbono E, Friedman DS, Gaasterland D, et al. CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. Am J Ophthalmol. 2013;155:342–53.e5).
   PubMed Web of Science ®Google Scholar
• Pasmant E, Sabbagh A, Vidaud M, Bièche I. ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS. FASEB J. 2011;25:444–48.
   PubMed Web of Science ®Google Scholar
• Hannon GJ, Beach D. p15INK4B is a potential effector of TGF-beta-induced cell cycle arrest. Nature. 1994;371:257–61.
   PubMed Web of Science ®Google Scholar
• Iglesias AI, Springelkamp H, van der Linde H, Severijnen LA, Amin N, Oostra B, Kockx CE, van den Hout MC, Van Ijcken WF, Hofman A, et al. Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age. Hum Mol Genet. 2014;23(5):1320–32. doi:https://doi.org/10.1093/hmg/ddt522.
   PubMed Web of Science ®Google Scholar
• Zode GS, Clark AF, Wordinger RJ. Bone morphogenetic protein 4 inhibits TGF-beta2 stimulation of extracellular matrix proteins in optic nerve head cells: role of gremlin in ECM modulation. Glia. 2009;57:755–66.
   PubMed Web of Science ®Google Scholar
• Kasetti RB, Maddineni P, Patel PD, Searby C, Sheffield VC, Zode GS. Transforming growth factor beta2 (TGFbeta2) signaling plays a key role in glucocorticoid-induced ocular hypertension. J Biol Chem. 2018;293:9854–68.
   PubMed Web of Science ®Google Scholar
• Schlotzer-Schrehardt U, Lommatzsch J, Kuchle M, Konstas AG, Naumann GO. Matrix metalloproteinases and their inhibitors in aqueous humor of patients with pseudoexfoliation syndrome/glaucoma and primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2003;44:1117–25.
   PubMed Web of Science ®Google Scholar
• Litovkina O, Nekipelova E, Dvornyk V, Polonikov A, Efremova O, Zhernakova N, Reshetnikov E, Churnosov M. 2014. Genes involved in the regulation of vascular homeostasis determine renal survival rate in patients with chronic glomerulonephritis. Gene. 546(1):112–16. doi:https://doi.org/10.1016/j.gene.2014.04.020.
   PubMed Web of Science ®Google Scholar
• Moskalenko MI, Milanova SN, Ponomarenko IV, Polonikov AV, Churnosov MI. Study of associations of polymorphism of matrix metalloproteinases genes with the development of arterial hypertension in men. Kardiologiia. 2019;59(7S):31–39. (In Russian). doi:https://doi.org/10.18087/cardio.2598.
   PubMed Web of Science ®Google Scholar
• Tikunova E, Ovtcharova V, Reshetnikov E, Dvornyk V, Polonikov A, Bushueva O, Churnosov M. Genes of tumor necrosis factors and their receptors and the primary open angle glaucoma in the population of Central Russia. Int J Ophthalmol. 2017;10:1490–94.
   PubMed Web of Science ®Google Scholar
• Starikova D, Ponomarenko I, Reshetnikov E, Dvornyk V, Churnosov M. Novel data about association of the functionally significant polymorphisms of the MMP-9 gene with exfoliation glaucoma in the Caucasian population of Central Russia. Ophthalmic Res. 2021;64:458–64. doi:https://doi.org/10.1159/000512507.
   PubMed Web of Science ®Google Scholar
• Eliseeva NV. A replicative study of the associations of polymorphic loci of the LOXL1 and GDKN2B-AS1 genes with the development of primary open-angle glaucoma in men of the central black earth region of the Russian federation. Res Results Biomed. 2020;6(2):198–208. (In Russian). doi:https://doi.org/10.18413/2658-6533-2020-6-2-0-4.
   Google Scholar
• Minyaylo O, Ponomarenko I, Reshetnikov E, Dvornyk V, Churnosov M. Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia. Sci Rep. 2021;11(1):13515. doi:https://doi.org/10.1038/s41598-021-92527-y
   Google Scholar
• Reshetnikov E, Zarudskaya O, Polonikov A, Bushueva O, Orlova V, Krikun E, Dvornyk V, Churnosov M. 2017. Genetic markers for inherited thrombophilia are associated with fetal growth retardation in the population of Central Russia. J Obstet Gynaecol Res. 43(7):1139–44. doi:https://doi.org/10.1111/jog.13329.
   PubMed Web of Science ®Google Scholar
• Ponomarenko I, Reshetnikov E, Polonikov A, Sorokina I, Yermachenko A, Dvornyk V, Churnosov M. Candidate genes for age at menarche are associated with endometrial hyperplasia. Gene. 2020;757:144933. doi:https://doi.org/10.1016/j.gene.2020.144933.
   PubMed Web of Science ®Google Scholar
• Ponomarenko I, Reshetnikov E, Polonikov A, Verzilina I, Sorokina I, Yermachenko A, Dvornyk V, Churnosov M. Candidate genes for age at menarche are associated with uterine leiomyoma. Front Genet. 2021;11:512940. doi:https://doi.org/10.3389/fgene.2020.512940.
   PubMed Web of Science ®Google Scholar
• Chen Y, Hughes G, Chen X, Qian S, Cao W, Wang L, Wang M, Sun X. 2015. Genetic variants associated with different risks for high tension glaucoma and normal tension glaucoma in a Chinese population. Invest Ophthalmol Vis Sci. 56(4):2595–600. doi:https://doi.org/10.1167/iovs.14-16269.
   PubMed Web of Science ®Google Scholar
• Liu Y, Hauser MA, Akafo SK, Qin X, Miura S, Gibson JR, Wheeler J, Gaasterland DE, Challa P, Herndon LW, et al. Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci. 2013;54(9):6248–6254. 7. doi:https://doi.org/10.1167/iovs.13-12779.
   PubMed Web of Science ®Google Scholar
• Moschos MM, Dettoraki M, Karekla A, Lamprinakis I, Damaskos C, Gouliopoulos N, Tibilis M, Gazouli M. 2020. Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma. PLoS One. 15(6):e0233692. doi:https://doi.org/10.1371/journal.pone.0233692.
   PubMed Web of Science ®Google Scholar
• Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, et al. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet. 2011;20:2464–71.
   PubMed Web of Science ®Google Scholar
• Eliseeva N, Ponomarenko I, Reshetnikov E, Dvornyk V, Churnosov M. LOXL1 gene polymorphism candidates for exfoliation glaucoma are also associated with a risk for primary open-angle glaucoma in a Caucasian population from central Russia. Mol Vis. 2021;27:262–69.
   PubMed Web of Science ®Google Scholar
• Reshetnikov EA, Akulova LY, Dobrodomova IS, Dvornyk VY, Polonikov AV, Churnosov MI. 2015. The insertion-deletion polymorphism of the ACE gene is associated with increased blood pressure in women at the end of pregnancy. J Renin Angiotensin Aldosterone Syst. 16(3):623–32. doi:https://doi.org/10.1177/1470320313501217.
   PubMed Web of Science ®Google Scholar
• Chen Z, Qian Q, Ma G, Wang J, Zhang X, Feng Y, Shen C, Yao Y. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316:1491–93.
   PubMed Web of Science ®Google Scholar
• Golovchenko O, Abramova M, Ponomarenko I, Reshetnikov E, Aristova I, Polonikov A, Dvornyk V, Churnosov M. Functionally significant polymorphisms of ESR1and PGR and risk of intrauterine growth restriction in population of Central Russia. Eur J Obstet Gynecol Reprod Biol. 2020;253:52–57. doi:https://doi.org/10.1016/j.ejogrb.2020.07.045.
   PubMed Web of Science ®Google Scholar
• Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007;316:1341–45.
   PubMed Web of Science ®Google Scholar
• Jarinova O, Stewart AF, Roberts R, Wells G, Lau P, Naing T, Buerki C, McLean BW, Cook RC, Parker JS, et al. Functional analysis of the chromosome 9p21.3. Coronary artery disease risk locus . Arterioscler Thromb Vasc Biol. 2009;29:1671–77.
   PubMed Web of Science ®Google Scholar
• Ponomarenko I, Reshetnikov E, Altuchova O, Polonikov A, Sorokina I, Yermachenko A, Dvornyk V, Golovchenko O, Churnosov M. Association of genetic polymorphisms with age at menarche in Russian women. Gene. 2019;686:228–36. doi:https://doi.org/10.1016/j.gene.2018.11.042.
   PubMed Web of Science ®Google Scholar
• Moskalenko M, Ponomarenko I, Reshetnikov E, Dvornyk V, Churnosov M. 2021. Polymorphisms of the matrix metalloproteinase genes are associated with essential hypertension in a Caucasian population of Central Russia. Sci Rep. 11(1):5224. doi:https://doi.org/10.1038/s41598-021-84645-4.
   PubMed Web of Science ®Google Scholar
• Ponomarenko I, Reshetnikov E, Polonikov A, Verzilina I, Sorokina I, Elgaeva EE, Tsepilov YA, Yermachenko A, Dvornyk V, Churnosov M. 2020. Candidate genes for age at menarche are associated with endometriosis. Reprod Biomed Online. 41(5):943–56. doi:https://doi.org/10.1016/j.rbmo.2020.04.016.
   PubMed Web of Science ®Google Scholar
• Che R, Jack JR, Motsinger-Reif AA, Brown CC. An adaptive permutation approach for genome-wide association study: evaluation and recommendations for use. BioData Min. 2014;7:9.
   PubMed Web of Science ®Google Scholar
• Burdon KP, Crawford A, Casson RJ, Hewitt AW, Landers J, Danoy P, Mackey DA, Mitchell P, Healey PR, Craig JE. 2012. Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma. Ophthalmology. 119(8):1539–45. doi:https://doi.org/10.1016/j.ophtha.2012.02.004.
   PubMed Web of Science ®Google Scholar
• Ng SK, Burdon KP, Fitzgerald JT, Zhou T, Fogarty R, Souzeau E, Landers J, Mills RA, Casson RJ, Ridge B, et al. Genetic association at the 9p21 glaucoma locus contributes to sex bias in normal-tension glaucoma. Invest Ophthalmol Vis Sci. 2016;57(7):3416–21. doi:https://doi.org/10.1167/iovs.16-19401.
   PubMed Web of Science ®Google Scholar
• Thakur N, Kupani M, Mannan R, Pruthi A, Mehrotra S. 2021. Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis. BMC Med Genomics. 14(1):1. doi:https://doi.org/10.1186/s12920-020-00855-1.
   PubMed Web of Science ®Google Scholar
• Holdt LM, Hoffmann S, Sass K, Langenberger D, Scholz M, Krohn K, Finstermeier K, Stahringer A, Wilfert W, Beutner F, et al. Alu elements in ANRIL non-coding RNA at chromosome 9p21 modulate atherogenic cell functions through trans-regulation of gene networks. PLoS Genet. 2013;9:e1003588.
   PubMed Web of Science ®Google Scholar
• Wagner AH, Anand VN, Wang WH, Chatterton JE, Sun D, Shepard AR, Jacobson N, Pang IH, Deluca AP, Casavant TL, et al. Exon-level expression profiling of ocular tissues. Exp Eye Res. 2013;111:105–11.
   PubMed Web of Science ®Google Scholar
• Shete S, Hosking FJ, Robertson LB, Dobbins SE, Sanson M, Malmer B, Simon M, Marie Y, Boisselier B, Delattre JY, et al. Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet. 2009;41:899–904.
   PubMed Web of Science ®Google Scholar
• Danford ID, Verkuil LD, Choi DJ, Collins DW, Gudiseva HV, Uyhazi KE, Lau MK, Kanu LN, Grant GR, Chavali VRM, et al. Characterizing the “POAGome”: abioinformatics-driven approach to primary open-angle glaucoma. Prog Retin Eye Res. 2017;58:89‐114.
   PubMed Web of Science ®Google Scholar
• Chen D, Zhang Z, Mao C, Zhou Y, Yu L, Yin Y, Wu S, Mou X, Zhu Y. ANRIL inhibits p15(INK4b) through the TGFbeta1 signaling pathway in human esophageal squamous cell carcinoma. Cell Immunol. 2014;289:91–96.
   PubMed Web of Science ®Google Scholar
• Rathi S, Danford I, Gudiseva HV, Verkuil L, Pistilli M, Vishwakarma S, Kaur I, Dave T, O’Brien JM, Chavali VRM. 2020. Molecular Genetics and Functional Analysis Implicate CDKN2BAS1-CDKN2B Involvement in POAG Pathogenesis. Cells. 9(9):1934. doi:https://doi.org/10.3390/cells9091934.
   Web of Science ®Google Scholar
• Hu Z, He C. CDKN2B gene rs1063192 polymorphism decreases the risk of glaucoma. Oncotarget. 2017;8:21167–76.
   PubMedGoogle Scholar
• Fan BJ, Wang DY, Pasquale LR, Haines JL, Wiggs JL. Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population. Invest Ophthalmol Vis Sci. 2011;52:1788–92.
   PubMed Web of Science ®Google Scholar
• Nunes HF, Ananina G, Costa VP, Zanchin NIT, JPC DV, de Melo MB. Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil. Ophthalmic Genet. 2018;39:194–99.
   PubMed Web of Science ®Google Scholar
• Micheal S, Ayub H, Khan MI, Bakker B, Schoenmaker-Koller FE, Ali M, Akhtar F, Khan WA, Qamar R, den Hollander AI. Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts. Mol Vis. 2014;20:1471–79.
   PubMed Web of Science ®Google Scholar
• Dvornyk V, Liu P, Zhang Y, Lei S, Recker R, Deng H.Contribution of genotype and ethnicity to bone mineral density variation in Caucasians and Chinese: a test for five candidate genes for bone mass. Chin Med J (Engl). 2005;118(15):1235–44.
   PubMed Web of Science ®Google Scholar
• Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007;317:1397–400.
   PubMed Web of Science ®Google Scholar
• Zanon-Moreno V, Zanon-Moreno L, Ortega-Azorin C, Asensio-Marquez EM, Garcia-Medina JJ, Sanz P, Pinazo-Duran MD, Ordovás JM, Corella D. Genetic polymorphism related to exfoliative glaucoma is also associated with primary open-angle glaucoma risk. Clin Exp Ophthalmol. 2015;43:26–30.
   PubMed Web of Science ®Google Scholar