Genome-wide association study of primary open angle glaucoma risk and quantitative traits

Molecular Vision

Volumn 18, Issue , 2012, Pages 1083-1092

  Gibson, Jane ^a   Griffiths, Helen ^a   de Salvo, Gabriella ^b   Cole, Mick ^c   Jacob, Aby ^b   MacLeod, Alex ^b   Yang, Yit ^d   Menon, Geeta ^e   Cree, Angela ^a   Ennis, Sarah ^a   Lotery, Andrew ^a,b  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^c TORBAY HOSPITAL   (United Kingdom)

^d NEW CROSS HOSPITAL   (United Kingdom)

^e FRIMLEY PARK HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CDKN2B GENE; CHROMOSOME 16; COHORT ANALYSIS; CONTROLLED STUDY; CORNEA THICKNESS; CUP DISC RATIO; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; INTRAOCULAR PRESSURE; MAJOR CLINICAL STUDY; MALE; NEDD9 GENE; OPEN ANGLE GLAUCOMA; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SRBD1 GENE; TMCO1 GENE; VISUAL SYSTEM PARAMETERS;

AGED; AGED, 80 AND OVER; COHORT STUDIES; EYE PROTEINS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GREAT BRITAIN; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT, HERITABLE; RISK FACTORS; TONOMETRY, OCULAR;

EID: 84860857040     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006; 90:262-7. [PMID: 16488940]
2. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-70. [PMID: 9005853]
3. Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295:1077-9. [PMID: 11834836]
4. Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, Sarfarazi M. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005; 14:725-33. [PMID: 15677485]
5. Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstatter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA, Reis A. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet 2009; 85:447-56. [PMID: 19765683]
6. Liu Y, Liu W, Crooks K, Schmidt S, Allingham RR, Hauser MA. No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. Am J Hum Genet 2010; 86:498-9. [PMID: 20215012]
7. Wiggs JL, Auguste J, Allingham RR, Flor JD, Pericak-Vance MA, Rogers K, LaRocque KR, Graham FL, Broomer B, Del BE, Haines JL, Hauser M. Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. Arch Ophthalmol 2003; 121:1181-3. [PMID: 12912697]
8. Fan BJ, Wang DY, Lam DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem 2006; 39:249-58. [PMID: 16332362]
9. Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, Dewan A, Sigurdsson A, Jonasdottir A, Gudjonsson SA, Magnusson KP, Stefansson H, Lam DS, Tam PO, Gudmundsdottir GJ, Southgate L, Burdon KP, Gottfredsdottir MS, Aldred MA, Mitchell P, St CD, Collier DA, Tang N, Sveinsson O, Macgregor S, Martin NG, Cree AJ, Gibson J, Macleod A, Jacob A, Ennis S, Young TL, Chan JC, Karwatowski WS, Hammond CJ, Thordarson K, Zhang M, Wadelius C, Lotery AJ, Trembath RC, Pang CP, Hoh J, Craig JE, Kong A, Mackey DA, Jonasson F, Thorsteinsdottir U, Stefansson K. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet 2010; 42:906-9. [PMID: 20835238]
10. Wiggs JL, Hee KJ, Yaspan BL, Mirel DB, Laurie C, Crenshaw A, Brodeur W, Gogarten S, Olson LM, Abdrabou W, Delbono E, Loomis S, Haines JL, Pasquale LR. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet 2011; 20:4707-13. [PMID: 21873608]
11. Burdon KP, Macgregor S, Hewitt AW, Sharma S, Chidlow G, Mills RA, Danoy P, Casson R, Viswanathan AC, Liu JZ, Landers J, Henders AK, Wood J, Souzeau E, Crawford A, Leo P, Wang JJ, Rochtchina E, Nyholt DR, Martin NG, Montgomery GW, Mitchell P, Brown MA, Mackey DA, Craig JE. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet 2011; 43:574-8. [PMID: 21532571]
12. Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S. Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2011; 52:4626-9. [PMID: 21508110]
13. Khor CC, Ramdas WD, Vithana EN, Cornes BK, Sim X, Tay WT, Saw SM, Zheng Y, Lavanya R, Wu R, Wang JJ, Mitchell P, Uitterlinden AG, Rivadeneira F, Teo YY, Chia KS, Seielstad M, Hibberd M, Vingerling JR, Klaver CC, Jansonius NM, Tai ES, Wong TY, van Duijn CM, Aung T. Genomewide 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 2011; 20:1864-72. [PMID: 21307088]
14. Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, Henders AK, Gordon SD, Andrew T, McEvoy B, Sanfilippo PG, Carbonaro F, Tah V, Li YJ, Bennett SL, Craig JE, Montgomery GW, Tran-Viet KN, Brown NL, Spector TD, Martin NG, Young TL, Hammond CJ, Mackey DA. Genomewide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet 2010; 19:2716-24. [PMID: 20395239]
15. Ramdas WD, van Koolwijk LM, Ikram MK, Jansonius NM, de Jong PT, Bergen AA, Isaacs A, Amin N, Aulchenko YS, Wolfs RC, Hofman A, Rivadeneira F, Oostra BA, Uitterlinden AG, Hysi P, Hammond CJ, Lemij HG, Vingerling JR, Klaver CC, van Duijn CM. A genome-wide association study of optic disc parameters. PLoS Genet 2010; 6:e1000978. [PMID: 20548946]
16. Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE, Mackey DA. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet 2010; 6:e1000947. [PMID: 20485516]
17. Vitart V, Bencic G, Hayward C, Skunca HJ, Huffman J, Campbell S, Bucan K, Navarro P, Gunjaca G, Marin J, Zgaga L, Kolcic I, Polasek O, Kirin M, Hastie ND, Wilson JF, Rudan I, Campbell H, Vatavuk Z, Fleck B, Wright A. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet 2010; 19:4304-11. [PMID: 20719862]
18. Vithana EN, Aung T, Khor CC, Cornes BK, Tay WT, Sim X, Lavanya R, Wu R, Zheng Y, Hibberd ML, Chia KS, Seielstad M, Goh LK, Saw SM, Tai ES, Wong TY. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet 2011; 20:649-58. [PMID: 21098505]
19. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement factor H polymorphism in age-related macular degeneration. Science 2005; 308:385-9. [PMID: 15761122]
20. WTCCC. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447:661-78. [PMID: 17554300]
21. Ennis S, Gibson J, Griffiths H, Bunyan D, Cree AJ, Robinson D, Self J, Macleod A, Lotery A. Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients. Eye (Lond) 2010; 24:328-33. [PMID: 19407846]
22. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81:559-75. [PMID: 17701901]
23. Liton PB, Luna C, Challa P, Epstein DL, Gonzalez P. Genomewide expression profile of human trabecular meshwork cultured cells, nonglaucomatous and primary open angle glaucoma tissue. Mol Vis 2006; 12:774-90. [PMID: 16862071]
24. Raychaudhuri S, Iartchouk O, Chin K, Tan PL, Tai AK, Ripke S, Gowrisankar S, Vemuri S, Montgomery K, Yu Y, Reynolds R, Zack DJ, Campochiaro B, Campochiaro P, Katsanis N, Daly MJ, Seddon JM. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet 2011; 43:1232-6. [PMID: 22019782]
25. Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lussen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet 2011; 20:2464-71. [PMID: 21427129]
26. Meguro A, Inoko H, Ota M, Mizuki N, Bahram S. Genomewide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. Ophthalmology 2010; 117:1331-8. [PMID: 20363506]
27. Desronvil T, Logan-Wyatt D, Abdrabou W, Triana M, Jones R, Taheri S, Del BE, Pasquale LR, Olivier M, Haines JL, Fan BJ, Wiggs JL. Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. Mol Vis 2010; 16:2185-91. [PMID: 21139683]