CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States

American Journal of Ophthalmology

Volumn 155, Issue 2, 2013, Pages

  Pasquale, Louis R ^a   Loomis, Stephanie J ^a   Kang, Jae H ^a   Yaspan, Brian L ^b,p   Abdrabou, Wael ^a   Budenz, Donald L ^c   Chen, Teresa C ^a   Delbono, Elizabeth ^a   Friedman, David S ^d   Gaasterland, Douglas ^e   Gaasterland, Terry ^f   Grosskreutz, Cynthia L ^a   Lee, Richard K ^g   Lichter, Paul R ^h   Liu, Yutao ⁱ   McCarty, Catherine A ^j,o   Moroi, Sayoko E ^h   Olson, Lana M ^b   Realini, Tony ^k   Rhee, Douglas J ^a   Schuman, Joel S ^l   Singh, Kuldev ^m   Vollrath, Douglas ^m   Wollstein, Gadi ^l   Zack, Donald J ^d   Allingham, R Rand ⁱ   Pericak Vance, Margaret A ^g   Weinreb, Robert N ^f   Zhang, Kang ^f   Hauser, Michael A ⁱ   Richards, Julia E ^h,n   Haines, Jonathan L ^b   Wiggs, Janey L ^a   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e Eye Doctors of Washington   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

ⁱ DUKE UNIVERSITY MEDICAL CENTER   (United States)

^j MARSHFIELD CLINIC   (United States)

^k West Virginia University Eye Institute   (United States)

^l UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^m STANFORD UNIVERSITY   (United States)

ⁿ UNIVERSITY OF MICHIGAN   (United States)

^o ESSENTIA INSTITUTE OF RURAL HEALTH   (United States)

^p GENENTECH INC   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2B;

ARTICLE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRAOCULAR PRESSURE; OBSERVATIONAL STUDY; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84872319362     PISSN: 00029394     EISSN: 18791891     Source Type: Journal    
DOI: 10.1016/j.ajo.2012.07.023     Document Type: Article

References (36)

1. E. Pasmant, A. Sabbagh, M. Vidaud, and I. Bieche ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS FASEB J 25 2 2011 444 448
2. K.P. Burdon, S. Macgregor, and A.W. Hewitt Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 Nat Genet 43 6 2011 574 578
3. B.J. Fan, D.Y. Wang, L.R. Pasquale, J.L. Haines, and J.L. Wiggs 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 52 3 2011 1788 1792
4. W.D. Ramdas, L.M. van Koolwijk, and H.G. Lemij Common genetic variants associated with open-angle glaucoma Hum Mol Genet 20 12 2011 2464 2471
5. J. Wiggs, B. Yaspan, and M. Hauser Common variants in the CDKN2BAS region on 9p21 and a novel region on 8q23 are associated with the normal tension form of open-angle glaucoma with increased susceptibility to optic nerve degeneration PLoS Genet 8 4 2012 e1002654
6. M. Nakano, Y. Ikeda, and Y. Tokuda Common variants in CDKN2B-AS1 associated with optic nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese PLoS One 7 3 2012 e33389
7. W. Osman, S.K. Low, A. Takahashi, M. Kubo, and Y. Nakamura A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma Hum Mol Genet 21 12 2012 2836 2842
8. M.S. Cunnington, M. Santibanez Koref, B.M. Mayosi, J. Burn, and B. Keavney Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression PLoS Genet 6 4 2010 e1000899
9. K. Schoppmeyer, P.S. Norris, and M. Haas Inhibition of T-cell acute lymphoblastic leukemia proliferation in vivo by re-expression of the p16INK4a tumor suppressor gene Neoplasia 1 2 1999 128 137
10. E. Latres, M. Malumbres, and R. Sotillo Limited overlapping roles of P15(INK4b) and P18(INK4c) cell cycle inhibitors in proliferation and tumorigenesis EMBO J 19 13 2000 3496 3506 (Pubitemid 30428227)
11. O. Loughran, A. Malliri, and D. Owens Association of CDKN2A/p16INK4A with human head and neck keratinocyte replicative senescence: relationship of dysfunction to immortality and neoplasia Oncogene 13 3 1996 561 568 (Pubitemid 26283852)
12. S. Erickson, O. Sangfelt, M. Heyman, J. Castro, S. Einhorn, and D. Grander Involvement of the Ink4 proteins p16 and p15 in T-lymphocyte senescence Oncogene 17 5 1998 595 602 (Pubitemid 28401028)
13. B.B. McConnell, M. Starborg, S. Brookes, and G. Peters Inhibitors of cyclin-dependent kinases induce features of replicative senescence in early passage human diploid fibroblasts Curr Biol 8 6 1998 351 354 (Pubitemid 28159123)
14. J. Fuxe, G. Akusjarvi, H.M. Goike, G. Roos, V.P. Collins, and R.F. Pettersson Adenovirus-mediated overexpression of p15INK4B inhibits human glioma cell growth, induces replicative senescence, and inhibits telomerase activity similarly to p16INK4A Cell Growth Differ 11 7 2000 373 384 (Pubitemid 30619565)
15. M.B. Wax, G. Tezel, and P.D. Edward Clinical and ocular histopathological findings in a patient with normal-pressure glaucoma Arch Ophthalmol 116 8 1998 993 1001 (Pubitemid 29101822)
16. L.A. Kerrigan, D.J. Zack, H.A. Quigley, S.D. Smith, and M.E. Pease TUNEL-positive ganglion cells in human primary open-angle glaucoma Arch Ophthalmol 115 8 1997 1031 1035 (Pubitemid 27328493)
17. W.D. Ramdas, L.M. van Koolwijk, and M.K. Ikram A genome-wide association study of optic disc parameters PLoS Genet 6 6 2010 e1000978
18. M.C. Cornelis, A. Agrawal, and J.W. Cole The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions Genet Epidemiol 34 4 2010 364 372
19. Wiggs J, Hauser M, Abdrabou W, et al. The NEIGHBOR Consortium Primary Open Angle Glaucoma Genome-wide Association Study: Rationale, study design and clinical variables. J Glaucoma. doi: 10.1097/IJG.0b013e31824d4fd8. 2012.07.23
20. J.L. Wiggs, J. Hee Kang, and B.L. Yaspan Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA Hum Mol Genet 20 23 2011 4707 4713
21. S. Purcell, B. Neale, and K. Todd-Brown PLINK: a tool set for whole-genome association and population-based linkage analyses Am J Hum Genet 81 3 2007 559 575 (Pubitemid 47330214)
22. E.Z. Blumenthal, and R. Sapir-Pichhadze Misleading statistical calculations in far-advanced glaucomatous visual field loss Ophthalmology 110 1 2003 196 200 (Pubitemid 36068745)
23. D.C. Musch, P.R. Lichter, K.E. Guire, and C.L. Standardi The Collaborative Initial Glaucoma Treatment Study: study design, methods, and baseline characteristics of enrolled patients Ophthalmology 106 4 1999 653 662 (Pubitemid 30194301)
24. The Advanced Glaucoma Intervention Study (AGIS): 1. Study design and methods and baseline characteristics of study patients Control Clin Trials 15 4 1994 299 325
25. R. DerSimonian, and N. Laird Meta-analysis in clinical trials Control Clin Trials 7 1986 177 188 (Pubitemid 17189972)
26. S. Macgregor, A.W. Hewitt, and P.G. Hysi Genome-wide association identifies ATOH7 as a major gene determining human optic disc size Hum Mol Genet 19 13 2010 2716 2724
27. J.H. Fingert Primary open-angle glaucoma genes Eye (Lond) 25 5 2011 587 595
28. Y. Liu, and R.R. Allingham Molecular genetics in glaucoma Exp Eye Res 93 4 2011 331 339
29. C.T. Leffler, and L. Amini Interpretation of uniocular and binocular trials of glaucoma medications: an observational case series BMC Ophthalmol 7 2007 17
30. C.A. Girkin, P.A. Sample, and J.M. Liebmann African Descent and Glaucoma Evaluation Study (ADAGES): II. Ancestry differences in optic disc, retinal nerve fiber layer, and macular structure in healthy subjects Arch Ophthalmol 128 5 2010 541 550
31. R.W. Beck, D.K. Messner, D.C. Musch, C.L. Martonyi, and P.R. Lichter Is there a racial difference in physiologic cup size? Ophthalmology 92 7 1985 873 876 (Pubitemid 15003389)
32. T. Chi, R. Ritch, D. Stickler, B. Pitman, C. Tsai, and F.Y. Hsieh Racial differences in optic nerve head parameters Arch Ophthalmol 107 6 1989 836 839 (Pubitemid 19166354)
33. C.S. Tsai, L. Zangwill, and C. Gonzalez Ethnic differences in optic nerve head topography J Glaucoma 4 4 1995 248 257
34. R. Varma, J.M. Tielsch, and H.A. Quigley Race-, age-, gender-, and refractive error-related differences in the normal optic disc Arch Ophthalmol 112 8 1994 1068 1076 (Pubitemid 24272613)
35. D. Cao, X. Jiao, and X. Liu CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies PLoS One 7 6 2012 e39278
36. K.P. Burdon, A. Crawford, and R.J. Casson Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma Ophthalmology 119 8 2012 1539 1545