Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure

Investigative Ophthalmology and Visual Science

Volumn 56, Issue 1, 2015, Pages 544-551

  Chen, Fei ^a   Klein, Alison P ^a,b,c   Klein, Barbara E K ^d   Lee, Kristine E ^d   Truitt, Barbara ^e   Klein, Ronald ^d   Iyengar, Sudha K ^e   Duggal, Priya ^a  

^a JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^e CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Exome; Intraocular pressure; SNP

Indexed keywords

CAVEOLIN 1; CAVEOLIN 2; CAV1 PROTEIN, HUMAN; CAV2 PROTEIN, HUMAN; DNA;

ADULT; AGED; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CAV1 GENE; CAV2 GENE; EXOME; FEMALE; GENE; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPING TECHNIQUE; GOLDMANN APPLANATION TONOMETER; HUMAN; INTRAOCULAR PRESSURE; MALE; PHENOTYPE; PRIORITY JOURNAL; CLINICAL TRIAL; FOLLOW UP; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; MULTICENTER STUDY; OPEN ANGLE GLAUCOMA; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; PROTEIN MICROARRAY; RETROSPECTIVE STUDY; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; CAVEOLIN 1; CAVEOLIN 2; DNA; EXOME; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; PROTEIN ARRAY ANALYSIS; RETROSPECTIVE STUDIES;

EID: 84921753027     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-15204     Document Type: Article

References (43)

1. Garcia-Valenzuela E, Shareef S, Walsh J, Sharma SC. Programmed cell death of retinal ganglion cells during experimental glaucoma. Exp Eye Res. 1995;61:33–44.
2. Leske MC, Heijl A, Hussein M, et al. Factors for glaucoma progression and the effect of treatment: the early manifest glaucoma trial. Arch Ophthalmol. 2003;121:48–56.
3. The Advanced Glaucoma Intervention Study (AGIS): 4— comparison of treatment outcomes within race: seven-year results. Ophthalmology. 1998;105:1146–1164.
4. Duggal P, Klein AP, Lee KE, et al. A genetic contribution to intraocular pressure: the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 2005;46:555–560.
5. van Koolwijk LM, Despriet DD, Van duijn CM, et al. Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology. Invest Ophthalmol Vis Sci. 2007;48:3669–3676.
6. Klein BE, Klein R, Lee KE. Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 2004;45:59–62.
7. Charlesworth J, Kramer PL, Dyer T, et al. The path to openangle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness. Invest Ophthalmol Vis Sci. 2010;51:3509–3514.
8. Charlesworth JC, Dyer TD, Stankovich JM, et al. Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree. Invest Ophthalmol Vis Sci. 2005;46:3723– 3729.
9. Duggal P, Klein AP, Lee KE, Klein R, Klein BE, Bailey-Wilson JE. Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study. Arch Ophthalmol. 2007;125:74–79.
10. van Koolwijk LM, Ramdas WD, Ikram MK, et al. Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet. 2012;8:e1002611.
11. Ozel AB, Moroi SE, Reed DM, et al. Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet. 2014;133:41–57.
12. Strange A, Bellenguez C, Sim X, et al. Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. Hum Mol Genet. 2013;22:4653–4660.
13. Nag A, Venturini C, Small KS, et al. A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. Hum Mol Genet. 2014;23:3343–3348.
14. 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.
15. 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.
16. Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet. 2010;11:415–425.
17. Linton KL, Klein BE, Klein R. The validity of self-reported and surrogate-reported cataract and age-related macular degeneration in the Beaver Dam Eye Study. Am J Epidemiol. 1991;134: 1438–1446.
18. Klein BE, Klein R, Linton KL. Intraocular pressure in an American community: The Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 1992;33:2224–2228.
19. The Hypertension Detection and Follow-up Program: Hypertension Detection and Follow-up Program Cooperative Group. Prev Med. 1976;5:207–215.
20. Fernandez JR, Etzel C, Beasley TM, Shete S, Amos CI, Allison DB. Improving the power of sib pair quantitative trait loci detection by phenotype winsorization. Hum Hered. 2002;53: 59–67.
21. Wang J, Shete S. Testing departure from Hardy-Weinberg proportions. Methods Mol Biol. 2012;850:77–102.
22. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38: 904–909.
23. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–575.
24. Gauderman WJ, Morrison JM. QUANTO 1.1: a computer program for power and sample size calculations for geneticepidemiology studies. 2006.
25. Wiggs JL, Kang JH, Yaspan BL, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet. 2011; 20:4707–4713.
26. Loomis SJ, Kang JH, Weinreb RN, et al. Association of CAV1/ CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology. 2014;121:508–516.
27. 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;21:2836–2842.
28. Nakano M, Ikeda Y, Tokuda Y, 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:e33389.
29. Wiggs JL, Yaspan BL, Hauser MA, et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet. 2012;8: e1002654.
30. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient metaanalysis of genomewide association scans. Bioinformatics. 2010;26:2190–2191.
31. Seunggeun L, Miropolsky L, Wu M. SKAT: SNP-set (Sequence) Kernel Association Test: R package version 0.95. 2014
32. R Development Core Team. R Foundation for Statistical Computing. R: a language and environment for statistical computing. 2008.
33. Lee S, Wu MC, Lin X. Optimal tests for rare variant effects in sequencing association studies. Biostatistics. 2012;13:762–775.
34. Rochtchina E, Mitchell P, Wang JJ. Relationship between age and intraocular pressure: the Blue Mountains Eye Study. Clin Experiment Ophthalmol. 2002;30:173–175.
35. Wiggs JL, Hauser MA, Abdrabou W, et al. The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables. J Glaucoma. 2013;22:517–525.
36. Li X, Mcclellan ME, Tanito M, et al. Loss of caveolin-1 impairs retinal function due to disturbance of subretinal microenvironment. J Biol Chem. 2012;287:16424–16434.
37. Gu X, Fliesler SJ, Zhao YY, Stallcup WB, Cohen AW, Elliott MH. Loss of caveolin-1 causes blood-retinal barrier breakdown, venous enlargement, and mural cell alteration. Am J Pathol. 2014;184:541–555.
38. Giovingo M, Nolan M, Mccarty R, et al. sCD44 overexpression increases intraocular pressure and aqueous outflow resistance. Mol Vis. 2013;19:2151–2164.
39. Cheng JB, Russell DW. Mammalian wax biosynthesis, I: identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions. J Biol Chem. 2004;279:37789–37797.
40. Tesco G, Koh YH, Kang EL, et al. Depletion of GGA3 stabilizes BACE and enhances beta-secretase activity. Neuron. 2007;54: 721–737.
41. Yang GZ, Yang M, Lim Y, et al. Huntingtin associated protein 1 regulates trafficking of the amyloid precursor protein and modulates amyloid beta levels in neurons. J Neurochem. 2012; 122:1010–1022.
42. Kiyozumi D, Sugimoto N, Nakano I, Sekiguchi K. Frem3, a member of the 12 CSPG repeats-containing extracellular matrix protein family, is a basement membrane protein with tissue distribution patterns distinct from those of Fras1, Frem2, and QBRICK/Frem1. Matrix Biol. 2007;26:456–462.
43. Ritch R. The management of exfoliative glaucoma. Prog Brain Res. 2008;173:211–224.