ArticleMolecular vision2011
Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- XRCC1 and XPD genetic polymorphisms and susceptibility to age-related cataract: a meta-analysis.Molecular vision · 2015Pooled it
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- Microarray Profiling of Differentially Expressed Genes in Coronary Artery Bypass Grafts of High-Risk Patients with Postoperative Cognitive Dysfunctions.International journal of environmental research and public health · 2023Article
- Potential of GJA8 gene variants in predicting age-related cataract: A comparison of supervised machine learning methods.PloS one · 2023Article
- A recurrent variant inOphthalmic genetics · 2022Article
- Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.Frontiers in cell and developmental biology · 2022Article
- Mutations of CX46/CX50 and Cataract Development.Frontiers in molecular biosciences · 2022Review
- A novel mutation ofInternational journal of ophthalmology · 2020Article
- The impact ofInternational journal of ophthalmology · 2019Article
- The impact of GJA8 SNPs on susceptibility to age-related cataract.Human genetics · 2018Article
- Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.Molecular syndromology · 2017Article
- Focus on lens connexins.BMC cell biology · 2017Review
- Molecular Genetics of Cataract.Progress in molecular biology and translational science · 2015Review
- Lens density tracking in mice by Scheimpflug imaging.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Article
- Genetic variations and polymorphisms in the ezrin gene are associated with age-related cataract.Molecular vision · 2013Article
- Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell death.PloS one · 2013Article
- A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.Molecular vision · 2012Article
- A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the role of genetic variations in three known cataract-associated genes, gap junction protein α3 (GJA3), gap junction protein α8 (GJA8), lens intrinsic membrane protein 2 (LIM2), encoding lens fiber cell membrane proteins in the development of age-related cataracts.
methodsOne hundred and forty-five sporadic age-related cataract patients and one hundred and fifty-six unrelated random healthy controls participated in this study. Genomic DNA was extracted from peripheral blood leukocytes. All exons of GJA3, GJA8, and LIM2 were sequenced after being amplified by polymerase chain reaction (PCR). The functional consequences of the mutations were analyzed using PolyPhen.
resultsWe found five novel variations in 145 patients and none of them presented in the 156 controls. There are two variations in GJA3 (c.-39C>G, c. 415G>A); one in GJA8 (c. 823G>A), and two in LIM2 (c.57G>A, c.67A>C). PolyPhen predicted that the LIM2 c.67A>C mutation may have potential pathogenicity.
conclusionsThe genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts. This study showed a potential relationship between lens fiber cell membrane protein genes and the development of age-related cataracts in the Chinese population.
Indexed as
Identifiers
21386927PMC3049737W2124143025What OpenQuestion holds
Registered trials
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