ArticleProceedings of the National Academy of Sciences of the United States of America2004
Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.Nature communications · 2021Pooled it
- EPHA2 is associated with age-related cortical cataract in mice and humans.PLoS genetics · 2009Pooled it
- Through theGenes · 2024Review
- Potential of GJA8 gene variants in predicting age-related cataract: A comparison of supervised machine learning methods.PloS one · 2023Article
- Genotype, Age, Genetic Background, and Sex Influence Epha2-Related Cataract Development in Mice.Investigative ophthalmology & visual science · 2021Article
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- Functional analysis of deleteriousMolecular vision · 2021Article
- Functional analysis of deleteriousMolecular vision · 2021Article
- Biology of Inherited Cataracts and Opportunities for Treatment.Annual review of vision science · 2019Review
- Myopia in Chinese families shows linkage to 10q26.13.Molecular vision · 2018Observational
- Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.Molecular syndromology · 2017Article
- HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.Journal of human genetics · 2016Article
- Mitochondrial oxygen metabolism in primary human lens epithelial cells: Association with age, diabetes and glaucoma.Free radical biology & medicine · 2016Article
- The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population.Molecular vision · 2015Article
- Molecular Genetics of Cataract.Progress in molecular biology and translational science · 2015Review
- Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.Molecular vision · 2014Article
- Genetics of human cataract.Clinical genetics · 2013Review
- Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children.Journal of biomarkers · 2013Article
- EPHA2 polymorphisms and age-related cataract in India.PloS one · 2012Article
- Current gene discovery strategies for ocular conditions.Investigative ophthalmology & visual science · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
Age-related cataracts are one of the leading causes of visual impairment and blindness among the elderly worldwide. Among age-related cataracts, cortical opacities rank as the second most common type; however, little is known about their molecular pathogenesis or genetics. To identify susceptibility loci for cortical cataracts, we genotyped a subset of families (102 families; n = 224 sib pairs) from the Beaver Dam Eye Study and performed a model-free genome-wide linkage analysis for markers linked to a quantitative measure of cortical opacity. We obtained evidence for linkage at marker D1S1622 on chromosome 1p35 (P < 0.0002) and at marker D6S1053 on 6q12 (P < 0.00008) in the initial scan. Five additional regions on 1q31, 2p24, 2q11, 4q28, and 15q13 that are suggestive of linkage (P < or = 0.01 or logarithm of the likelihood ratio > or = 1.18) were observed. The region on chromosomes 6p12-q12 was selected for fine mapping, and the intermarker distance was reduced to 3 cM by adding 11 markers in the interval between D6S1017 and D6S1021. After fine mapping, significant evidence of linkage remained on chromosome 6p12-q12 at D6S1053 (P < 0.00005). The current genome scan for age-related cortical cataracts may lead to identification of novel genes, because few regions identified in the current scan have previously been implicated in congenital or age-related cataracts.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.