The NEIGHBOR Consortium Primary Open-Angle glaucoma genome-wide association study: Rationale, study design, and clinical variables

Journal of Glaucoma

Volumn 22, Issue 7, 2013, Pages 517-525

  Wiggs, Janey L ^a   Hauser, Michael A ^a   Abdrabou, Wael ^a   Allingham, Robert Rand ^a   Budenz, Donald L ^a   Delbono, Elizabeth ^a   Friedman, David S ^a   Kang, Jae H ^a   Gaasterland, Douglas ^a   Gaasterland, Terry ^a   Lee, Richard K ^a   Lichter, Paul R ^a   Loomis, Stephanie ^a   Liu, Yutao ^a   Mccarty, Cathy ^a   Medeiros, Felipe A ^a   Moroi, Sayoko E ^a   Olson, Lana M ^a   Realini, Anthony ^a   Richards, Julia E ^a   Rozsa, Frank W ^a   Schuman, Joel S ^a   Singh, Kuldev ^a   Stein, Joshua D ^a   Vollrath, Douglas ^a   Weinreb, Robert N ^a   Wollstein, Gadi ^a   Yaspan, Brian L ^a   Yoneyama, Sachiko ^a   Zack, Don ^a   Zhang, Kang ^a   Pericak Vance, Margaret ^a   Pasquale, Louis R ^a   Haines, Jonathan L ^a   more..

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

Genetics; Genome wide association study; Primary open angle glaucoma

Indexed keywords

ARTICLE; BODY MASS; CENTRAL CORNEAL THICKNESS; CLINICAL FEATURE; COHORT ANALYSIS; EFFECT SIZE; ELECTRONIC MEDICAL RECORD; FAMILY HISTORY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC TRAIT; HUMAN; INFORMATION PROCESSING; INTERVENTION STUDY; META ANALYSIS (TOPIC); MOLECULAR DIAGNOSIS; MULTICENTER STUDY (TOPIC); NATIONAL HEALTH ORGANIZATION; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; PUBLIC-PRIVATE PARTNERSHIP; RANDOMIZED CONTROLLED TRIAL (TOPIC); REFRACTION ERROR; RETINA MACULA AGE RELATED DEGENERATION; SAMPLE SIZE; STUDY DESIGN;

ADULT; AGED; AGED, 80 AND OVER; ANTIHYPERTENSIVE AGENTS; CASE-CONTROL STUDIES; COOPERATIVE BEHAVIOR; FEMALE; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; RESEARCH DESIGN; TRABECULECTOMY;

EID: 84883555830     PISSN: 10570829     EISSN: 1536481X     Source Type: Journal    
DOI: 10.1097/IJG.0b013e31824d4fd8     Document Type: Article

References (56)

1. Rudnicka AR, Mt-Isa S, Owen CG, et al. Variations in primary open-angle glaucoma prevalence by age, gender, and race: A Bayesian meta-analysis. Invest Ophthalmol Vis Sci. 2006;47:4254-4261
2. Congdon NG, Friedman DS, Lietman T. Important causes of visual impairment in the world today. JAMA. 2003;290: 2057-2060
3. Pizzarello L, Abiose A, Ffytche T, et al. Vision 2020: The right to sight. A global initiative to eliminate avoidable blindness. Arch Ophthalmol. 2004;122:615-620
4. Sung VC, Koppens JM, Vernon SA, et al. Longitudinal glaucoma screening for siblings of patients with primary open angle glaucoma: The Nottingham Family Glaucoma Screening Study. Br J Ophthalmol. 2006;90:59-63
5. Tielsch JM, Sommer A, Katz J, et al. Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. JAMA. 1991;266:369-374
6. Kang JH, Willett WC, Rosner BA, et al. Prospective study of alcohol consumption and the risk of primary open-angle glaucoma. Ophthalmic Epidemiol. 2007;14:141-147
7. Wang X, Harmon J, Zabrieskie N, et al. Using the Utah population database to assess familial risk of primary open angle glaucoma. Vision Res. 2010;50:2391-2395
8. Teikari JM. Genetic factors in open-angle (simple and capsular) glaucoma: A population-based twin study. Acta Ophthalmol Scand. 1987;65:715-720
9. Gottfredsdottir MS, Sverrisson T, Musch DC, et al. Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland. J Glaucoma. 1999;8:134-139
10. Fan BJ, Wiggs JL. Glaucoma: Genes, phenotypes, and new directions for therapy. J Clin Invest. 2010;120:3064-3072
11. Thorleifsson G, Walters GB, Hewitt AW, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet. 2010;42:906-909
12. Burdon KP, Macgregor S, Hewitt AW, et al. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet. 2011;43:574-578
13. Ramdas WD, Amin N, van Koolwijk LM, et al. Genetic architecture of open angle glaucoma and related determinants. J Med Genet. 2011;48:190-196
14. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389
15. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421
16. Edwards AO, Ritter R III, Abel KJ, et al. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421-424
17. Solouki AM, Verhoeven VJ, van Duijn CM, et al. A genomewide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet. 2010;42: 897-901
18. Hysi PG, Young TL, Mackey DA, et al. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat Genet. 2010;42:902-905
19. Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007;317:1397-1400
20. GAIN Collaborative Research Group,Manolio TA, Rodriguez LL, et al. New models of collaboration in genomewide association studies: The Genetic Association Information Network. Nat Genet. 2007;39:1045-1051
21. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447:661-678
22. Cornelis MC, Agrawal A, Cole JW, et al. for the GENEVA Consortium (2010). The gene, environment association studies consortium (GENEVA): Maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. Genet Epidemiol. 2010;34:364-372
23. Wang L, Hauser ER, Shah SH, et al. Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. Am J Hum Genet. 2007;80:650-663
24. McCarty CA, Chisholm RL, Chute CG, et al. eMERGE Team. The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics. 2011;4:13
25. Musch DC, Lichter PR, Guire KE, et al. The Collaborative Initial Glaucoma Treatment Study: Study design, methods, and baseline characteristics of enrolled patients. Ophthalmology. 1999;106:653-662
26. [No authors listed]. The Advanced Glaucoma Intervention Study (AGIS): 1. Study design and methods and baseline characteristics of study patients. Control Clin Trials. 1994;15:299-325
27. Hayney MS, Poland GA, Lipsky JJ. A noninvasive "swish and spit" method for collecting nucleated cells for HLA typing by PCR in population studies. Hum Hered. 1996;46:108-111
28. Rylander-Rudqvist T, Håkansson N, Tybring G, et al. Quality and quantity of saliva DNA obtained from the self-administrated oragene method - A pilot study on the cohort of Swedish men. Cancer Epidemiol Biomarkers Prev. 2006;15:1742-1745
29. Loomis SJ, Olson LM, Pasquale LR, et al. Feasibility of highthroughput genome-wide genotyping using DNA from stored buccal cell samples. Biomark Insights. 2010;5:49-55
30. Skol AD, Scott LJ, Abecasis GR, et al. Optimal designs for two-stage genome-wide association studies. Genet Epidemiol. 2007;31:776-788
31. Dueker DK, Singh K, Lin SC, et al. Corneal thickness measurement in the management of primary open-angle glaucoma: A report by the American Academy of Ophthalmology. Ophthalmology. 2007;114:1779-1787
32. Perera SA, Wong TY, Tay WT, et al. Refractive error, axial dimensions, and primary open-angle glaucoma: The Singapore Malay Eye Study. Arch Ophthalmol. 2010;128:900-905
33. Pasquale LR, Willett WC, Rosner BA, et al. Anthropometric measures and their relation to incident primary open-angle glaucoma. Ophthalmology. 2010;117:1521-1529
34. Ramdas WD, Wolfs RC, Hofman A, et al. Lifestyle and risk of developing open-angle glaucoma: The Rotterdam study. Arch Ophthalmol. 2011;129:767-772
35. Pasquale LR, Kang JH, Manson JE, et al. Prospective study of type 2 diabetes mellitus and risk of primary open-angle glaucoma in women. Ophthalmology. 2006;113:1081-1086
36. Duggal P, Klein AP, Lee KE, et al. Identification of novel genetic loci for intraocular pressure: A genomewide scan of the Beaver Dam Eye Study. Arch Ophthalmol. 2007;125:74-79
37. Kraft P. Efficient two-stage genome-wide association designs based on false positive report probabilities. Pac Symp Biocomput. 2006;523-534
38. Klein BE, Klein R, Sponsel WE, et al. Prevalence of glaucoma. The Beaver Dam Eye Study. Ophthalmology. 1992;99:1499-1504
39. Tielsch JM, Katz J, Singh K, et al. A population-based evaluation of glaucoma screening: The Baltimore Eye Survey. Am J Epidemiol. 1991;134:1102-1110
40. Chen Y, Zeng J, Zhao C, et al. Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors. Arch Ophthalmol. 2011;129:344-351
41. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461:747-753
42. Wiggs JL, Kang JH, Yaspan BL, et al. for the GENEVA consortium. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the continental United States. Hum Mol Genet. 2011;20: 4707-4713
43. Ramdas WD, van Koolwijk LM, Ikram MK, et al. A genomewide association study of optic disc parameters. PLoS Genet. 2010;6:e1000978
44. Macgregor S, Hewitt AW, Hysi PG, et al. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet. 2010;19:2716-2724
45. Desronvil T, Logan-Wyatt D, Abdrabou W, et al. Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. Mol Vis. 2010;16:2185-2191
46. Vithana EN, Aung T, Khor CC, et al. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet. 2011;20:649-658
47. Vitart V, Bencić G, Hayward C, et al. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet. 2010;19:4304-4311
48. Fan BJ, Wang DY, Pasquale LR, et al. 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: 1788-1792
49. Ramdas WD, van Koolwijk LM, Lemij HG, et al. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet. 2011;20:2464-2471
50. Kang JH, Wiggs JL, Rosner BA, et al. The relation between endothelial nitric oxide synthase gene variants and primary openangle glaucoma: Interactions with gender and postmenopausal hormone use. Invest Ophthalmol Vis Sci. 2010;51:971-979
51. Kang JH, Wiggs JL, Rosner BA, et al. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: Interactions with hypertension, alcohol and cigarette smoking. Arch Ophthalmol. 2011;129:773-780
52. Lesnick TG, Papapetropoulos S, Mash DC, et al. A genomic pathway approach to a complex disease: Axon guidance and Parkinson disease. PLoS Genet. 2007;3:e98
53. Dinu V, Miller PL, Zhao H. Evidence for association between multiple complement pathway genes and AMD. Genet Epidemiol. 2007;31:224-237
54. Bénardeau A, Benz J, Binggeli A, et al. Aleglitazar, a new, potent, and balanced dual PPARalpha/gamma agonist for the treatment of type II diabetes. Bioorg Med Chem Lett. 2009;19:2468-2473
55. Gourraud PA, McElroy JP, Caillier SJ, et al. Aggregation of multiple sclerosis genetic risk variants in multiple and single case families. Ann Neurol. 2011;69:65-74
56. Zaghloul NA, Katsanis N. Functional modules, mutational load and human genetic disease. Trends Genet. 2010;26:168-176