Complex genetics of complex traits: the case of primary open-angle glaucoma (Q36548759)

14 August 2017

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title

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

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14 August 2017

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David A Mackey

3

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Alex W. Hewitt

series ordinal

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object named as

Alex W Hewitt

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14 August 2017

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Jamie E Craig

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14 August 2017

1 July 2006

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Clinical and Experimental Ophthalmology

14 August 2017

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14 August 2017

34

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14 August 2017

5

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14 August 2017

472-484

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The definition and classification of glaucoma in prevalence surveys

14 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Intraocular pressure-lowering effects of all commonly used glaucoma drugs: a meta-analysis of randomized clinical trials

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

The prevalence of glaucoma in the Melbourne Visual Impairment Project.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Five-year incidence of open-angle glaucoma: the visual impairment project

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Incidence of open-angle glaucoma in a general elderly population: the Rotterdam Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Predictive DNA testing for glaucoma: reality in 2003.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Genetics and biochemistry of primary congenital glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Primary Open-Angle Glaucoma in Blacks: A Review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Prevalence of glaucoma in an African population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Identification of a gene that causes primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

A multidomain TIGR/olfactomedin protein family with conserved structural similarity in the N-terminal region and conserved motifs in the C-terminal region

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Optimedin: a novel olfactomedin-related protein that interacts with myocilin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Identification of flotillin-1 as a protein interacting with myocilin: implications for the pathogenesis of primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Founder TIGR/myocilin mutations for glaucoma in the Québec population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Optineurin in primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Different optineurin mutation pattern in primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

A case of trisomy 3q21?qter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Genome-wide scan for adult onset primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

May glutathione S-transferase M1 positive genotype afford protection against primary open-angle glaucoma?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Analysis of the Glutathione S-transferase M1 gene using pyrosequencing and multiplex PCR--no evidence of association to glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

No evidence of association between GT/CA-repeat polymorphism in the GLC1A gene promoter and primary open-angle or exfoliation glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Beta 2-adrenergic receptor polymorphism and susceptibility to primary congenital and primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

A codon 31ser-arg polymorphism of the WAF-1/CIP-1/p21/tumour suppressor gene in Chinese primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Association of tumour necrosis factor alpha -308 gene polymorphism with primary open-angle glaucoma in Chinese.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Evidence for association of endothelial nitric oxide synthase gene in subjects with glaucoma and a history of migraine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Distribution of oxidation enzyme eNOS and myeloperoxidase in primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Insulin‐like growth factor‐II gene polymorphism is associated with primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Primary open angle glaucoma is associated with a specific p53 gene haplotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Distributions of p53 codon 72 polymorphism in primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Associations between the deletion polymorphism of the angiotensin 1-converting enzyme gene and ocular signs of primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Prospective case control study on genetic assocation of apolipoprotein epsilon2 with intraocular pressure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

The role of apolipoprotein E gene polymorphisms in primary open-angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Finishing the euchromatic sequence of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

SNP analysis to dissect human traits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Adaptive evolution of non-coding DNA in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Obestatin, a peptide encoded by the ghrelin gene, opposes ghrelin's effects on food intake

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Toward genome-wide SNP genotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

A haplotype map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Genome-wide strategies for detecting multiple loci that influence complex diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Complement factor H polymorphism in age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Complement factor H polymorphism and age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Commingling analysis of intraocular pressure and glaucoma in an older Australian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Genomewide significant linkage to migrainous headache on chromosome 5q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Central corneal thickness is highly heritable: the twin eye studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01268.X

10.1111/J.1442-9071.2006.01268.X

21 January 2018

Identifiers

DOI

1 reference

14 August 2017

1 reference

PubMed ID

16872346