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Association of alpha A-crystallin polymorphisms with susceptibility to nuclear age-related cataract in a Han Chinese population

Overview of attention for article published in BMC Ophthalmology, July 2017
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Title
Association of alpha A-crystallin polymorphisms with susceptibility to nuclear age-related cataract in a Han Chinese population
Published in
BMC Ophthalmology, July 2017
DOI 10.1186/s12886-017-0529-9
Pubmed ID
Authors

Zhennan Zhao, Qi Fan, Peng Zhou, HongFei Ye, Lei Cai, Yi Lu

Abstract

Alpha A-crystallin (CRYAA) is considered critical for the maintenance of lens transparency and is related to the pathogenesis of age-related cataracts (ARCs), especially the nuclear subtype. As the 5' untranslated region (5' UTR) modulates gene expression, the purpose of current study was to investigate whether single nucleotide polymorphisms (SNPs) in the 5' UTR of CRYAA were associated with susceptibility to ARC in a Han Chinese population and to clarify the mechanism of this association. SNPs in the 5' UTR (-1 to -1000) of CRYAA were identified in 243 nuclear ARC patients and 263 controls using polymerase chain reaction and DNA sequencing. Allele and genotype frequencies were calculated and compared between two groups. Haploview 4.2 was used to calculate the linkage disequilibrium index, and the SHEsis analysis platform was used to infer haplotype construction. A dual-luciferase reporter gene assay was used for transcription of CRYAA in the presence of a protective haplotype with individual SNP alteration, Chromatin immunoprecipitation (ChIP) was employed to determine whether SNPs regulated CRYAA expression by altering the binding affinity of transcription factors. Three polymorphisms were identified in the 5' UTR of CRYAA: rs3761381 (P = 0.000357, odds ratio [OR] = 1.837), rs13053109 (P = 0.788, OR = 1.086), and rs7278468 (P = 0.00136, OR = 0.652). The haplotype C-G-T (P = 0.0014, OR = 1.536) increased the risk of nuclear ARC, whereas the haplotype T-G-G (P = 0.00029, OR = 0.535) decreased the risk. The haplotype C-G-T decreased CRYAA transcription through rs7278468, which is located in the binding site of specificity protein 1 (Sp1). Furthermore, the G allele of rs7278468 increased CRYAA transcription by enhancing the binding affinity of Sp1. These data indicate that the CRYAA polymorphism is a genetic marker of inter-individual differences in the risk of nuclear ARC.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 13 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 2 15%
Student > Ph. D. Student 2 15%
Lecturer 1 8%
Student > Bachelor 1 8%
Researcher 1 8%
Other 1 8%
Unknown 5 38%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 15%
Medicine and Dentistry 2 15%
Nursing and Health Professions 1 8%
Decision Sciences 1 8%
Agricultural and Biological Sciences 1 8%
Other 0 0%
Unknown 6 46%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 August 2017.
All research outputs
#21,264,673
of 23,881,329 outputs
Outputs from BMC Ophthalmology
#2,278
of 2,554 outputs
Outputs of similar age
#279,141
of 318,448 outputs
Outputs of similar age from BMC Ophthalmology
#22
of 30 outputs
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