ArticleAmerican journal of human genetics1998
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
72 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Family-based analysis identified CD2 as a susceptibility gene for primary open angle glaucoma in Chinese Han population.Journal of cellular and molecular medicine · 2014Pooled it
- Pooled it
- Genetic Aspects of Glaucoma: An Updated Review.Current molecular medicine · 2024Review
- Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.Scientific reports · 2022Article
- Genetic association of ANGPT2 with primary open-angle glaucoma.Eye and vision (London, England) · 2022Article
- Normal and glaucomatous outflow regulation.Progress in retinal and eye research · 2021Review
- The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.International journal of molecular sciences · 2020Review
- Mendelian genes in primary open angle glaucoma.Experimental eye research · 2019Review
- Research progress on human genes involved in the pathogenesis of glaucoma (Review).Molecular medicine reports · 2018Review
- Variants in the PRPF8 Gene are Associated with Glaucoma.Molecular neurobiology · 2018Article
- Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family.Molecular neurobiology · 2018Article
- Major review: Molecular genetics of primary open-angle glaucoma.Experimental eye research · 2017Review
- Lacritin and other autophagy associated proteins in ocular surface health.Experimental eye research · 2016Review
- A common variant near TGFBR3 is associated with primary open angle glaucoma.Human molecular genetics · 2015Article
- The genetics of POAG in black South Africans: a candidate gene association study.Scientific reports · 2015Article
- Genetics of primary open angle glaucoma.Japanese journal of ophthalmology · 2014Review
- Regulation of intraocular pressure by soluble and membrane guanylate cyclases and their role in glaucoma.Frontiers in molecular neuroscience · 2014Review
- Cellular processing of myocilin.PloS one · 2014Article
- A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci.PloS one · 2013Article
- Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.Eye (London, England) · 2012Review
12 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors.
Funding
Abstract
One of the major causes of blindness is primary open-angle glaucoma, which affects millions of elderly people worldwide. Genetic studies have so far mapped three loci for the adult-onset form of this condition to the 2cen-q13, 3q21-q24, and 8q23 regions. Herein, we report the localization of a fourth locus, to the 10p15-p14 region, in one large British family with a classical form of normal-tension open-angle glaucoma. Of the 42 meioses genotyped in this pedigree, 39 subjects (16 affected) inherited a haplotype compatible with their prior clinical designation, whereas the remaining 3 were classified as unknown. Although a maximum LOD score of 10.00 at a recombination fraction of straight theta=.00 was obtained with D10S1216, 21 other markers provided significant values, varying between 3.77 and 9.70. When only the affected meioses of this kindred were analyzed, LOD scores remained statistically significant, ranging from 3.16 (D10S527) to 3.57 (D10S506). Two critical recombinational events in the affected subjects positioned this new locus to a region of approximately 21 cM, flanked by D10S1729 and D10S1664. However, an additional recombination in a 59-year-old unaffected female suggests that this locus resides between D10S585 (or D10S1172) and D10S1664, within a genetic distance of 5-11 cM. However, the latter minimum region must be taken cautiously, because the incomplete penetrance has previously been documented for this group of eye conditions. A partial list of genes that positionally are considered as candidates includes NET1, PRKCT, ITIH2, IL2RA, IL15RA, IT1H2, hGATA3, the mRNA for open reading frame KIAA0019, and the gene for D123 protein.
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