CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies

PLoS ONE

Volumn 7, Issue 6, 2012, Pages

  Cao, Dan ^a,b   Jiao, Xiaodong ^a   Liu, Xing ^b   Hennis, Anselm ^c   Leske, M Cristina ^d   Nemesure, Barbara ^d   Hejtmancik, J Fielding ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b SUN YAT SEN UNIVERSITY   (China)

^c UNIVERSITY OF THE WEST INDIES   (Jamaica)

^d Stony Brook Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GUANINE; THYMINE;

ADULT; AFRO CARIBBEAN; AGED; ALLELE; ARTICLE; ATOH7 GENE; CARD10 GENE; CARIBBEAN ISLANDS; CAV1 GENE; CAV2 GENE; CDC7 GENE; CDKN2B AS1 GENE; CDKN2B GENE; CONTROLLED STUDY; DOMINANT INHERITANCE; ELOVL5 GENE; ETHNIC GROUP; FEMALE; GENE; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; OPEN ANGLE GLAUCOMA; PLXDC2 GENE; POPULATION GENETICS; RECESSIVE INHERITANCE; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SIX1 GENE; SRBD1 GENE; TGFBR3 GENE; TLR4 GENE; TMTC2 GENE; ZP4 GENE;

AFRICAN CONTINENTAL ANCESTRY GROUP; AGED; AGED, 80 AND OVER; ALLELES; BARBADOS; CYCLIN-DEPENDENT KINASE INHIBITOR P15; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84862980353     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0039278     Document Type: Article

References (41)

1. Quigley HA, Broman AT, (2006) The number of people with glaucoma worldwide in 2010 and 2020. BrJOphthalmol 90: 262-267.
2. Leske MC, Connell AM, Wu SY, Hyman LG, Schachat AP, (1995) Risk factors for open-angle glaucoma. The Barbados Eye Study [see comments]. Archives of Ophthalmology 113: 918-924.
3. Leske MC, Connell AM, Schachat AP, Hyman L, (1994) The Barbados Eye Study. Prevalence of open angle glaucoma. Archives of Ophthalmology 112: 821-829.
4. Mason RP, Kosoko O, Wilson MR, Martone JF, Cowan CL Jr, et al. (1989) National survey of the prevalence and risk factors of glaucoma in St. Lucia, West Indies. Part I. Prevalence findings. Ophthalmology 96: 1363-1368.
5. Wolfs RC, Klaver CC, Ramrattan RS, van Duijn CM, Hofman A, et al. (1998) Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. Archives of Ophthalmology 116: 1640-1645.
6. Wiggs JL, (2007) Genetic etiologies of glaucoma. Archives of Ophthalmology 125: 30-37.
7. Sanfilippo PG, Hewitt AW, Hammond CJ, Mackey DA, (2010) The heritability of ocular traits. Surv Ophthalmol 55: 561-583.
8. Fan BJ, Wang DY, Pasquale LR, Haines JL, Wiggs JL, (2011) 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: 1788-1792.
9. Nemesure B, He Q, Mendell N, Wu SY, Hejtmancik JF, et al. (2001) Inheritance of open-angle glaucoma in the Barbados family study. AmJMedGenet 103: 36-43.
10. Tielsch JM, Sommer A, Katz J, Royall RM, Quigley HA, et al. (1991) Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey [see comments]. Journal of the American Medical Association 266: 369-374.
11. Gottfredsdottir MS, Sverrisson T, Musch DC, Stefansson E, (1999) Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland. J Glaucoma 8: 134-139.
12. He M, Liu B, Huang W, Zhang J, Yin Q, et al. (2008) Heritability of optic disc and cup measured by the Heidelberg Retinal Tomography in Chinese: the Guangzhou twin eye study. Invest Ophthalmol Vis Sci 49: 1350-1355.
13. Stone EM, Fingert JH, Alward WM, Nguyen TD, Polansky JR, et al. (1997) Identification of a gene that causes primary open angle glaucoma [see comments]. Science 275: 668-670.
14. Rezaie T, Child A, Hitchings R, Brice G, Miller L, et al. (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295: 1077-1079.
15. Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, et al. (2005) Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. HumMolGenet 14: 725-733.
16. Shibuya E, Meguro A, Ota M, Kashiwagi K, Mabuchi F, et al. (2008) Association of Toll-like receptor 4 gene polymorphisms with normal tension glaucoma. Invest Ophthalmol Vis Sci 49: 4453-4457.
17. Nakano M, Ikeda Y, Taniguchi T, Yagi T, Fuwa M, et al. (2009) Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. Proc Natl Acad Sci U S A 106: 12838-12842.
18. Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, et al. (2011) Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma. Invest Ophthalmol Vis Sci 52: 4626-4629.
19. Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, et al. (2010) Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet 42: 906-909.
20. Wiggs JL, (2010) Genotypes need phenotypes. Arch Ophthalmol 128: 934-935.
21. Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, et al. (2010) Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet 19: 2716-2724.
22. Ramdas WD, van Koolwijk LM, Ikram MK, Jansonius NM, de Jong PT, et al. (2010) A genome-wide association study of optic disc parameters. PLoS Genet 6: e1000978.
23. Khor CC, Ramdas WD, Vithana EN, Cornes BK, Sim X, et al. (2011) Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. Hum Mol Genet 20: 1864-1872.
24. Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, et al. (2011) Common genetic variants associated with open-angle glaucoma. Hum Mol Genet 20: 2464-2471.
25. Burdon KP, Macgregor S, Hewitt AW, Sharma S, Chidlow G, et al. (2011) Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet 43: 574-578.
26. Girkin CA, Sample PA, Liebmann JM, Jain S, Bowd C, et al. (2010) 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: 541-550.
27. Racette L, Liebmann JM, Girkin CA, Zangwill LM, Jain S, et al. (2010) African Descent and Glaucoma Evaluation Study (ADAGES): III. Ancestry differences in visual function in healthy eyes. Arch Ophthalmol 128: 551-559.
28. Jiao X, Yang Z, Yang X, Chen Y, Tong Z, et al. (2009) Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. ProcNatlAcadSciUSA 106: 17105-17110.
29. Nemesure B, Jiao X, He Q, Leske MC, Wu SY, et al. (2003) A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. Human Genetics 112: 600-609.
30. Chylack LT, Leske MC, McCarthy D, Khu T, Dashwagi T, et al. (1989) Lens opacities classification system II (LOCS II). Archives of Ophthalmology 107: 991-997.
31. Leske MC, Nemesure B, He Q, Wu SY, Hejtmancik JF, et al. (2001) Patterns of open-angle glaucoma in the Barbados Family Study. Ophthalmology 108: 1015-1022.
32. Charlesworth J, Kramer PL, Dyer T, Diego V, Samples JR, et al. (2010) The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness. Invest Ophthalmol Vis Sci 51: 3509-3514.
33. Jarinova O, Stewart AF, Roberts R, Wells G, Lau P, et al. (2009) Functional analysis of the chromosome 9p21.3 coronary artery disease risk locus. Arterioscler Thromb Vasc Biol 29: 1671-1677.
34. Shete S, Hosking FJ, Robertson LB, Dobbins SE, Sanson M, et al. (2009) Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet 41: 899-904.
35. Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, et al. (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316: 1341-1345.
36. Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, et al. (2007) A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 316: 1491-1493.
37. Ghiasvand NM, Rudolph DD, Mashayekhi M, Brzezinski JAt, Goldman D, et al. (2011) Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. Nat Neurosci 14: 578-586.
38. Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, et al. (2012) Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet 8: e1002654.
39. Wiggs JL, Hee Kang J, Yaspan BL, Mirel DB, Laurie C, et al. (2011) Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet 20: 4707-4713.
40. Kuehn MH, Wang K, Roos B, Stone EM, Kwon YH, et al. (2011) Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Mol Vis 17: 430-435.
41. Rao KN, Kaur I, Chakrabarti S, (2009) Lack of association of three primary open-angle glaucoma-susceptible loci with primary glaucomas in an Indian population. Proc Natl Acad Sci U S A 106: E125-126; author reply E127.