Thylefors, B., Negrel, A.D., Pararajasegaram, R. & Dadzie, K.Y.
Global data on blindness. Bull. World Health Organ.
73, 115–121 (1995).
Quigley, H.A. & Broman, A.T.
The number of people with glaucoma worldwide in 2010 and 2020. Br. J. Ophthalmol.
90, 262–267 (2006).
Foster, P.J. & Johnson, G.J.
Glaucoma in China: how big is the problem?
Br. J. Ophthalmol.
85, 1277–1282 (2001).
Hornby, S.J., Adolph, S., Gilbert, C.E., Dandona, L. & Foster, A.
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology
107, 511–520 (2000).
et al. Angle-closure glaucoma in an urban population in southern India. The Andhra Pradesh eye disease study. Ophthalmology
107, 1710–1716 (2000).
Quigley, H.A., Congdon, N.G. & Friedman, D.S.
Glaucoma in China (and worldwide): changes in established thinking will decrease preventable blindness. Br. J. Ophthalmol.
85, 1271–1272 (2001).
Primary angle-closure glaucoma. Inheritance and environment. Br. J. Ophthalmol.
56, 13–20 (1972).
et al. The heritability and sibling risk of angle closure in Asians. Ophthalmology
118, 480–485 (2011).
Congdon, N., Wang, F. & Tielsch, J.M.
Issues in the epidemiology and population-based screening of primary angle-closure glaucoma. Surv. Ophthalmol.
36, 411–423 (1992).
Wong, T.Y., Loon, S.C. & Saw, S.M.
The epidemiology of age related eye diseases in Asia. Br. J. Ophthalmol.
90, 506–511 (2006).
Awadalla, M.S., Thapa, S.S., Burdon, K.P., Hewitt, A.W. & Craig, J.E.
The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population. Mol. Vis.
17, 2248–2254 (2011).
Awadalla, M.S., Burdon, K.P., Kuot, A., Hewitt, A.W. & Craig, J.E.
Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population. Mol. Vis.
17, 1420–1424 (2011).
Michael, S., Qamar, R., Akhtar, F., Khan, W.A. & Ahmed, A.
C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary closed angle glaucoma. Mol. Vis.
14, 661–665 (2008).
et al. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat. Genet.
44, 312–318 (2012).
et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat. Genet.
41, 579–584 (2009).
et al. Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. Nat. Genet.
43, 785–791 (2011).
et al. Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat. Genet.
44, 328–333 (2012).
et al. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nat. Genet.
43, 984–989 (2011).
Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene). Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat. Genet.
41, 824–828 (2009).
et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat. Genet.
42, 123–127 (2010).
et al. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. Nat. Genet.
43, 1241–1246 (2011).
et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat. Genet.
43, 699–705 (2011).
et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature
476, 214–219 (2011).
et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet
377, 641–649 (2011).
et al. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat. Genet.
43, 574–578 (2011).
et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat. Genet.
42, 906–909 (2010).
et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum. Mol. Genet.
20, 4707–4713 (2011).
Pulimeno, P., Bauer, C., Stutz, J. & Citi, S.
PLEKHA7 is an adherens junction protein with a tissue distribution and subcellular localization distinct from ZO-1 and E-cadherin. PLoS ONE
5, e12207 (2010).
Meng, W., Mushika, Y., Ichii, T. & Takeichi, M.
Anchorage of microtubule minus ends to adherens junctions regulates epithelial cell-cell contacts. Cell
135, 948–959 (2008).
Harris, T.J. & Tepass, U.
Adherens junctions: from molecules to morphogenesis. Nat. Rev. Mol. Cell Biol.
11, 502–514 (2010).
Tian, B., Geiger, B., Epstein, D.L. & Kaufman, P.L.
Cytoskeletal involvement in the regulation of aqueous humor outflow. Invest. Ophthalmol. Vis. Sci.
41, 619–623 (2000).
et al. Iris cross-sectional area decreases with pupil dilation and its dynamic behavior is a risk factor in angle closure. J. Glaucoma
18, 173–179 (2009).
Quigley, H.A., Friedman, D.S. & Congdon, N.G.
Possible mechanisms of primary angle-closure and malignant glaucoma. J. Glaucoma
12, 167–180 (2003).
Aptel, F. & Denis, P.
Optical coherence tomography quantitative analysis of iris volume changes after pharmacologic mydriasis. Ophthalmology
117, 3–10 (2010).
et al. Genome-wide association study of blood pressure and hypertension. Nat. Genet.
41, 677–687 (2009).
et al. Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. Nat. Genet.
42, 772–776 (2010).
et al. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat. Genet.
43, 321–327 (2011).
et al. Complement factor H polymorphism in age-related macular degeneration. Science
308, 385–389 (2005).
et al. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen. Hum. Mol. Genet.
5, 1339–1343 (1996).
Snead, M.P. & Yates, J.R.
Clinical and molecular genetics of Stickler syndrome. J. Med. Genet.
36, 353–359 (1999).
et al. Ocular biometry in occludable angles and angle closure glaucoma: a population based survey. Br. J. Ophthalmol.
87, 399–402 (2003).
Michael, I., Shmoish, M., Walton, D.S. & Levenberg, S.
Interactions between trabecular meshwork cells and lens epithelial cells: a possible mechanism in infantile aphakic glaucoma. Invest. Ophthalmol. Vis. Sci.
49, 3981–3987 (2008).
et al. ST18 is a breast cancer tumor suppressor gene at human chromosome 8q11.2. Oncogene
23, 9295–9302 (2004).
Yang, J., Siqueira, M.F., Behl, Y., Alikhani, M. & Graves, D.T.
The transcription factor ST18 regulates proapoptotic and proinflammatory gene expression in fibroblasts. FASEB J.
22, 3956–3967 (2008).
Mathieson, I. & McVean, G.
Differential confounding of rare and common variants in spatially structured populations. Nat. Genet.
44, 243–246 (2012).
Diehn, J.J., Diehn, M., Marmor, M.F. & Brown, P.O.
Differential gene expression in anatomical compartments of the human eye. Genome Biol.
6, R74 (2005).
et al. Microarray analysis of gene expression in human donor corneas. Arch. Ophthalmol.
119, 1629–1634 (2001).
et al. The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat. Genet.
41, 882–884 (2009).
et al. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat. Genet.
41, 885–890 (2009).
et al. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. Am. J. Hum. Genet.
63, 1411–1418 (1998).
et al. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proc. Natl. Acad. Sci. USA
102, 9553–9558 (2005).
et al. Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11–14. Hum. Genet.
122, 589–593 (2008).
et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet.
81, 559–575 (2007).
1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature
467, 1061–1073 (2010).
et al. Singapore Genome Variation Project: a haplotype map of three Southeast Asian populations. Genome Res.
19, 2154–2162 (2009).
Purcell, S., Cherny, S.S. & Sham, P.C.
Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics
19, 149–150 (2003).