Literature DB >> 8513321

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

V C Sheffield1, E M Stone, W L Alward, A V Drack, A T Johnson, L M Streb, B E Nichols.   

Abstract

Glaucoma is a significant cause of blindness world wide. There is evidence to suggest that at least a subset of the disease is determined genetically. We studied 37 members of a family affected with an autosomal dominant form of juvenile open angle glaucoma and 22 were found to be affected. Linkage analysis using short tandem repeat markers mapped the disease-causing gene to chromosome 1q21-q31. Eight markers were significantly linked (Zmax > 3.0) to the disease, with the highest lod score 6.5 (theta = 0), provided by D1S212. The atrial natriuretic peptide (ANP)/receptor system has been proposed to have a role in glaucoma and one of the ANP receptor genes maps to chromosome 1q.

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Year:  1993        PMID: 8513321     DOI: 10.1038/ng0593-47

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  120 in total

1.  The OPA1 gene and optic neuropathy.

Authors:  W L M Alward
Journal:  Br J Ophthalmol       Date:  2003-01       Impact factor: 4.638

2.  Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

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Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318

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Journal:  Invest Ophthalmol Vis Sci       Date:  2011-09-29       Impact factor: 4.799

4.  The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness.

Authors:  Jac Charlesworth; Patricia L Kramer; Tom Dyer; Victor Diego; John R Samples; Jamie E Craig; David A Mackey; Alex W Hewitt; John Blangero; Mary K Wirtz
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-17       Impact factor: 4.799

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

Authors:  Paul N Baird; Simon J Foote; David A Mackey; Jamie Craig; Terence P Speed; Alexandre Bureau
Journal:  Hum Genet       Date:  2005-05-20       Impact factor: 4.132

6.  Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study.

Authors:  Priya Duggal; Alison P Klein; Kristine E Lee; Ronald Klein; Barbara E K Klein; Joan E Bailey-Wilson
Journal:  Arch Ophthalmol       Date:  2007-01

7.  Inherited, familial and sporadic primary open-angle glaucoma.

Authors:  Gordon Gong; Sade Kosoko-Lasaki; Gleb Haynatzki; Henry T Lynch; Jane A Lynch; M Roy Wilson
Journal:  J Natl Med Assoc       Date:  2007-05       Impact factor: 1.798

Review 8.  Glaucoma genetics.

Authors:  Pratap Challa
Journal:  Int Ophthalmol Clin       Date:  2008

Review 9.  Prospects for genetic intervention in primary open-angle glaucoma.

Authors:  M K Wirtz; T S Acott; J R Samples; J C Morrison
Journal:  Drugs Aging       Date:  1998-11       Impact factor: 3.923

10.  Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth.

Authors:  Takahisa Koga; Xiang Shen; Jeong-Seok Park; Ye Qiu; Bum-Chan Park; Rajalekshmy Shyam; Beatrice Y J T Yue
Journal:  Am J Pathol       Date:  2009-12-03       Impact factor: 4.307

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