A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci (Q34639285)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23536807%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23536807%20AND%20SRC:MED&resulttype=core&format=json

genome-wide association study

27 February 2020

main subject

0 references

primary open angle glaucoma

1 reference

1 reference

1

1 reference

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27 February 2020

John H. Fingert

2

1 reference

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27 February 2020

Markus H Kuehn

4

1 reference

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27 February 2020

Wallace Alward

6

1 reference

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27 February 2020

H. Culver Boldt

7

1 reference

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27 February 2020

Stephen R Russell

8

1 reference

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27 February 2020

James C. Folk

9

1 reference

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27 February 2020

Edwin M. Stone

13

1 reference

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27 February 2020

Val C Sheffield

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23536807%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

11

Terry A Braun

1 reference

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27 February 2020

author name string

Kai Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23536807%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Kevin L Knudtson

5

1 reference

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27 February 2020

Thomas L Casavant

10

1 reference

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27 February 2020

Abbot F Clark

12

1 reference

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27 February 2020

language of work or name

English

0 references

publication date

11 March 2013

1 reference

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27 February 2020

1 reference

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27 February 2020

volume

8

1 reference

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27 February 2020

issue

3

1 reference

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27 February 2020

page(s)

e58657

1 reference

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Creative Commons Attribution 4.0 International

27 February 2020

copyright license

start time

11 March 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

genome-wide association study

1 reference

Analysis of ASB10 variants in open angle glaucoma

inferred from title

cites work

1 reference

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Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia

7 July 2018

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Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma

7 July 2018

1 reference

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Confirmation of TBK1 duplication in normal tension glaucoma

7 July 2018

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Variants in ASB10 are associated with open-angle glaucoma

7 July 2018

1 reference

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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA

7 July 2018

1 reference

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Primary open-angle glaucoma genes.

7 July 2018

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Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

7 July 2018

1 reference

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Common genetic variants associated with open-angle glaucoma

7 July 2018

1 reference

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Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population

7 July 2018

1 reference

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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

7 July 2018

1 reference

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Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility

7 July 2018

1 reference

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No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma

7 July 2018

1 reference

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The complement component 5 gene and age-related macular degeneration

7 July 2018

1 reference

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Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population

7 July 2018

1 reference

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Null mutations in LTBP2 cause primary congenital glaucoma

7 July 2018

1 reference

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Protective autoimmunity in the nervous system

7 July 2018

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Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Variation near complement factor I is associated with risk of advanced AMD

7 July 2018

1 reference

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The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration

7 July 2018

1 reference

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The classical complement cascade mediates CNS synapse elimination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

A genomewide association study of skin pigmentation in a South Asian population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Complement C3 variant and the risk of age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene

7 July 2018

1 reference

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

7 July 2018

1 reference

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Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure

7 July 2018

1 reference

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A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration

7 July 2018

1 reference

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HTRA1 promoter polymorphism in wet age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant

7 July 2018

1 reference

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Complex genetics of complex traits: the case of primary open-angle glaucoma

7 July 2018

1 reference

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Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Retinal synthesis and deposition of complement components induced by ocular hypertension.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Complement component 1Q (C1Q) upregulation in retina of murine, primate, and human glaucomatous eyes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Complex genetics of glaucoma susceptibility

7 July 2018

1 reference

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Susceptibility genes for age-related maculopathy on chromosome 10q26

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Early adult-onset POAG linked to 15q11-13 using ordered subset analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Complement factor H polymorphism in age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Complement factor H polymorphism and age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Complement factor H variant increases the risk of age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Missense variations in the fibulin 5 gene and age-related macular degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

The International HapMap Project

7 July 2018

1 reference

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Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Risk factors associated with age-related macular degeneration. A case-control study in the age-related eye disease study: Age-Related Eye Disease Study Report Number 3

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Gene ontology: tool for the unification of biology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Identification of a gene that causes primary open angle glaucoma.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

The epidemiology of open-angle glaucoma: a review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594156

Complement membrane attack on nucleated cells: resistance, recovery and non-lethal effects

7 July 2018

1 reference

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The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma.

7 July 2018

1 reference

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Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0058657

Association of Toll-like receptor 4 gene polymorphisms with normal tension glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0058657

Determination of a gene and environment risk model for age-related macular degeneration.

21 January 2018

1 reference

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The Ocular Hypertension Treatment Study: design and baseline description of the participants

21 January 2018

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A genotype calling algorithm for affymetrix SNP arrays.

21 January 2018

1 reference

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Testing for genetic association in the presence of population stratification in genome-wide association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0058657

Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0058657

Disruption of the complement cascade delays retinal ganglion cell death following retinal ischemia-reperfusion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0058657

Evidence for a novel glaucoma locus at chromosome 3p21-22

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0058657

No Association Between Variations in the WDR36 Gene and Primary Open-Angle Glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0058657

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0058657

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0058657

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

21 January 2018

1 reference

12 December 2020

Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

1 reference

12 December 2020

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

1 reference

12 December 2020

Comparison of glaucomatous progression between untreated patients with normal-tension glaucoma and patients with therapeutically reduced intraocular pressures. Collaborative Normal-Tension Glaucoma Study Group

1 reference

12 December 2020

GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36

1 reference

12 December 2020

A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0058657

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23536807%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23536807%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23536807%20AND%20SRC:MED&resulttype=core&format=json