Novel susceptibility genes associated with diabetic cataract in a Taiwanese population

  title={Novel susceptibility genes associated with diabetic cataract in a Taiwanese population},
  author={Hui-Ju Lin and Yu‐Chuen Huang and Jane-Ming Lin and Wen-Ling Liao and Jer-Yuarn Wu and Chien-Hsiun Chen and Yi-Chun Chou and Liuh-An Chen and Chao-jen Lin and Fuu-Jen Tsai},
  journal={Ophthalmic Genetics},
  pages={35 - 42}
Purpose: To identify genetic variants that predispose to type 2 diabetes (T2D) with cataract. Patients and methods: Genome-wide association study (GWAS) of T2D patients with cataract, as graded by Lens Opacities Classification System (LOCS). A total of 109 T2D patients with cataract score equal to or above 10 designated as the study group, 649 T2D patients with cataract score equal to or below 3 as the control group. Single nucleotide polymorphisms (SNPs) with p-values < 10–5 were considered to… 
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Supporting evidence is identified that CACNA1C gene is associated with diabetic cataract and the role of calcium in the cataractsogenesis needs to be reevaluated in future studies.
Aldose reductase, glucose and cataracts.
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  • 2014
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A genome-wide association study using 1,075,436 quality-controlled single nucleotide polymorphisms (SNPs) genotyped in 402 individuals in extended pedigrees from a Western Australian Aboriginal community found genes/pathways in common with other ethnicities were identified despite the arrival of Aboriginal people in Australia >45,000 years ago.
Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation
Analysis of regions exhibiting cell-type specific alterations in DNA methylation revealed an overrepresentation of consensus sequences of multiple transcription factors known to play key roles in lens cell differentiation including HIF1A, SOX2, and the MAF family of transcription factors.
Increased Expression of Ecto-NOX Disulfide-thiol Exchanger 1 (ENOX1) in Diabetic Mice Retina and its Involvement in Diabetic Retinopathy Development
Different retinal ENox1 expression in T2D mice and control mice suggested that ENOX1 may be involved in DR development, particularly in the photoreceptor layer, compared to the control mouse retinas.
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A non-parametric genetic prediction method based on latent Dirichlet Process regression models that enjoys robust prediction performance across a broad spectrum of genetic architectures is developed.


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Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
The data implicate KCNQ1 as a diabetes susceptibility gene in groups of different ancestries as well as in two independent Japanese populations, and the risk allele of this polymorphism was associated with impairment of insulin secretion according to the homeostasis model assessment of β-cell function or the corrected insulin response.
A Genome-Wide Association Study Identifies Susceptibility Variants for Type 2 Diabetes in Han Chinese
Identifying two novel genetic susceptibility loci in a Han Chinese population and confirming the involvement of KCNQ1, which was previously reported to be associated with T2D in Japanese and European descent populations, may lead to a better understanding of differences in the molecular pathogenesis of type 2 diabetes among various populations.
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Four loci containing variants that confer type 2 diabetes risk are identified and constitute proof of principle for the genome-wide approach to the elucidation of complex genetic traits.
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The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts and PolyPhen predicted that the LIM2 c.67A>C mutation may have potential pathogenicity.
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The genotype–phenotype correlation of this previously unreported mutation provides evidence that other factors, genetic and/or environmental, may influence the development of cataract as a result of this alteration.
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A novel and prevalent GALK variant (designated here as the "Osaka" variant) associated with an A198V mutation in three infants with mild GALK deficiency is identified through mass screening of newborn infants.
[Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the beta A1-crystallin gene].
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  • 2003
This is the first report of an autosomal dominant congenital nuclear cataract caused by the mutation in the CRYBA1 gene, and it is a deletion mutation DeltaG91 of CRYba1 gene that causes autosomal dominance congenitalnuclear cataracts.
New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function
  • J. Perry, T. Frayling
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    Current opinion in clinical nutrition and metabolic care
  • 2008
This study focuses on explaining the genome-wide approach that has led to most of the discoveries and discusses some of the early insights the new gene loci have provided into the aetiology of type 2 diabetes.