Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
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- Authors
- Thorleifsson, Gudmar; Walters, G Bragi; Hewitt, Alex W; Masson, Gisli; Helgason, Agnar; DeWan, Andrew; Sigurdsson, Asgeir; Jonasdottir, Adalbjorg; Gudjonsson, Sigurjon A; Magnusson, Kristinn P; Stefansson, Hreinn; Lam, Dennis S C; Tam, Pancy O S; Gudmundsdottir, Gudrun J; Southgate, Laura; Burdon, Kathryn P; Gottfredsdottir, Maria Soffia; Aldred, Micheala A; Mitchell, Paul; St Clair, David; Collier, David A; Tang, Nelson; Sveinsson, Orn; Macgregor, Stuart; Martin, Nicholas G; Cree, Angela J; Gibson, Jane; Macleod, Alex; Jacob, Aby; Ennis, Sarah; Young, Terri L; Chan, Juliana C N; Karwatowski, Wojciech S S; Hammond, Christopher J; Thordarson, Kristjan; Zhang, Mingzhi; Wadelius, Claes; Lotery, Andrew J; Trembath, Richard C; Pang, Chi Pui; Hoh, Josephine; Craig, Jamie E; Kong, Augustine; Mackey, David A; Jonasson, Fridbert; Thorsteinsdottir, Unnur; Stefansson, Kari
- Year
- 2010
- Journal
- Nature genetics
- PMID
- 20835238
- DOI
- 10.1038/ng.661
- PMCID
- PMC3222888
We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 Γ 10β»ΒΉβ°). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
The 7q31 locus. (a) The pairwise correlation structure in a 600-kb interval (115.65β116.25 Mb, NCBI B36) on chromosome 7. The upper plot shows pairwise Dβ² for 533 common SNPs (defined as those having minor allele frequency >5%) from the Utah CEU HapMap (r22) samples. The lower plot shows the corresponding r2 values. (b) Estimated sex-averaged recombination rates (saRR) in cM/Mb from the HapMap Phase II data31. (c) Location of known genes in the region. (d) Schematic view of the association with POAG for all 70 markers tested in the GWAS in the region. All panels use the same horizontal scale shown in d.
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| Evaluation of genetic association of the INK4 locus with primary open angle glaucoma in East Indian population. | Vishal M et al. | β | 2014 | β |
| Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure. | Chen F et al. | β | 2014 | β |
| Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age. | Iglesias AI et al. | β | 2014 | β |
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| Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma. | Bailey JN et al. | β | 2014 | β |
| Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma. | Crawford A et al. | β | 2014 | β |
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| Loss of caveolin-1 causes blood-retinal barrier breakdown, venous enlargement, and mural cell alteration. | Gu X et al. | β | 2014 | β |
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| The protective role of the -735C/T and the -1306C/T polymorphisms of the MMP-2 gene in the development of primary open-angle glaucoma. | Kaminska A et al. | β | 2014 | β |
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| Analysis of catalase SNP rs1001179 in Saudi patients with primary open angle glaucoma. | Abu-Amero KK et al. | β | 2013 | β |
| Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population. | Kato T et al. | β | 2013 | β |
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| Comprehensive investigation of the caveolin 2 gene: resequencing and association for kidney transplant outcomes. | McCaughan JA et al. | β | 2013 | β |
| Copy number variation at chromosome 5q21.2 is associated with intraocular pressure. | Nag A et al. | β | 2013 | β |
| Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma. | MartΓnez-Jacobo L et al. | β | 2013 | β |
| Effect of ageing on the retinal vascular responsiveness to flicker light in glaucoma patients and in ocular hypertension. | Gugleta K et al. | β | 2013 | β |
| Effects of polymorphisms in vitamin E-, vitamin C-, and glutathione peroxidase-related genes on serum biomarkers and associations with glaucoma. | Zanon-Moreno V et al. | β | 2013 | β |
| Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma. | Liu Y et al. | β | 2013 | β |
| Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. | Ratnapriya R et al. | β | 2013 | β |
| Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. | Lu Y et al. | β | 2013 | β |
| Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. | Blue Mountains Eye Study (BMES) et al. | β | 2013 | β |
| Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry. | Souzeau E et al. | β | 2013 | β |
| Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. | Liu Y et al. | β | 2013 | β |
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| Ocular expression and distribution of products of the POAG-associated chromosome 9p21 gene region. | Chidlow G et al. | β | 2013 | β |
| p73 G4C14-to-A4T14 polymorphisms are positively correlated with triple-negative breast cancer in southwestern China. | Zhou X | β | 2013 | β |
| Regional pathology in glaucoma--an overlooked link to neuroprotective strategies. | Clarke MS | β | 2013 | β |
| Role of rs1533428 and rs12994401 in patients with Primary Open Angle Glaucoma in an European population. | Bachernegg A et al. | β | 2013 | β |
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| The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology. | Janssen SF et al. | β | 2013 | β |
| A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. | Osman W et al. | β | 2012 | β |
| An approach to predict the risk of glaucoma development by integrating different attribute data. | Tokuda Y et al. | β | 2012 | β |
| Association of p73 G4C14-A4T14 polymorphisms with genetic susceptibilities to breast cancer: a case-control study. | Zhou X et al. | β | 2012 | β |
| Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment. | Souzeau E et al. | β | 2012 | β |
| CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies. | Cao D et al. | β | 2012 | β |
| Common genetic determinants of intraocular pressure and primary open-angle glaucoma. | van Koolwijk LM et al. | β | 2012 | β |
| Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. | Wiggs JL et al. | β | 2012 | β |
| Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese. | Nakano M et al. | β | 2012 | β |
| Common variants on chromosome 9p21 are associated with normal tension glaucoma. | Takamoto M et al. | β | 2012 | β |
| Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment. | Gemenetzi M et al. | β | 2012 | β |
| Estrogen deficiency accelerates aging of the optic nerve. | Vajaranant TS et al. | β | 2012 | β |
| Evaluation of NTF4 as a causative gene for primary open-angle glaucoma. | Chen LJ et al. | β | 2012 | β |
| Gene expression and functional annotation of the human ciliary body epithelia. | Janssen SF et al. | β | 2012 | β |
| Genetic eye research in Tasmania: a historical overview. | Mackey DA | β | 2012 | β |
| Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. | Vithana EN et al. | β | 2012 | β |
| Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review. | Burdon KP | β | 2012 | β |
| Genome-wide association study of primary open angle glaucoma risk and quantitative traits. | Gibson J et al. | β | 2012 | β |
| Lack of association of SNP rs4236601 near CAV1 and CAV2 with POAG in a Saudi cohort. | Abu-Amero KK et al. | β | 2012 | β |
| Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma. | Mao M et al. | β | 2012 | β |
| Loss of caveolin-1 impairs retinal function due to disturbance of subretinal microenvironment. | Li X et al. | β | 2012 | β |
| No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis. | Dong S et al. | β | 2012 | β |
| Non-housekeeping genes expressed in human trabecular meshwork cell cultures. | Paylakhi SH et al. | β | 2012 | β |
| Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density. | Xiao SM et al. | β | 2012 | β |
| Shp-2 regulates the TrkB receptor activity in the retinal ganglion cells under glaucomatous stress. | Gupta VK et al. | β | 2012 | β |
| SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma. | Chen LJ et al. | β | 2012 | β |
| Variants in ASB10 are associated with open-angle glaucoma. | Pasutto F et al. | β | 2012 | β |
| Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. | Kuehn MH et al. | β | 2011 | β |
| Clinical implications of old and new genes for open-angle glaucoma. | Ramdas WD et al. | β | 2011 | β |
| Common genetic variants associated with open-angle glaucoma. | Ramdas WD et al. | β | 2011 | β |
| Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. | Wiggs JL et al. | β | 2011 | β |
| Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. | Fingert JH et al. | β | 2011 | β |
| Current gene discovery strategies for ocular conditions. | Duggal P et al. | β | 2011 | β |
| Expression of caveolin in trabecular meshwork cells and its possible implication in pathogenesis of primary open angle glaucoma. | Surgucheva I et al. | β | 2011 | β |
| GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease. | Liu Y et al. | β | 2011 | β |
| Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma. | Carbone MA et al. | β | 2011 | β |
| Genetics of primary glaucoma. | Khan AO | β | 2011 | β |
| 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. | Khor CC et al. | β | 2011 | β |
| Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. | Burdon KP et al. | β | 2011 | β |
| Genomics and the eye. | Sheffield VC et al. | β | 2011 | β |
| Large scale replication study of the association between HLA class II/BTNL2 variants and osteoarthritis of the knee in European-descent populations. | Valdes AM et al. | β | 2011 | β |
| Molecular genetics in glaucoma. | Liu Y et al. | β | 2011 | β |
| Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma. | Veth KN et al. | β | 2011 | β |
| Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience. | Bennett SN et al. | β | 2011 | β |
| Primary open-angle glaucoma genes. | Fingert JH | β | 2011 | β |
| Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma. | Kang JH et al. | β | 2011 | β |
| Serial analysis of gene expression (SAGE) in normal human trabecular meshwork. | Liu Y et al. | β | 2011 | β |
| Biomarkers of primary open-angle glaucoma. | Knepper PA et al. | β | 2010 | β |
| European bone mineral density loci are also associated with BMD in East-Asian populations. | Styrkarsdottir U et al. | β | 2010 | β |
| Genomics: The search for association. | Baker M | β | 2010 | β |