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Analysis of the VSX1 gene in sporadic keratoconus patients from China

Overview of attention for article published in BMC Ophthalmology, September 2017
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Title
Analysis of the VSX1 gene in sporadic keratoconus patients from China
Published in
BMC Ophthalmology, September 2017
DOI 10.1186/s12886-017-0567-3
Pubmed ID
Authors

Tao Guan, Xue Wang, Li-Bin Zheng, Hai-Jian Wu, Yu-Feng Yao

Abstract

Keratoconus normally presents as a sporadic disease. Although different studies have found sequence variants of the visual system homeobox 1 (VSX1) gene associated with keratoconus in humans, no research has detected such variants in sporadic keratoconus patients from China. To investigate the possibility of VSX1 being a candidate susceptibility gene for Chinese patients with sporadic keratoconus, we performed sequence screening of this gene in such patients. Whole DNA was obtained from the leukocytes in the peripheral venous blood of 50 patients with sporadic keratoconus and 50 control subjects without this ocular disorder. Polymerase chain reaction single-strand conformation polymorphism analysis and direct DNA sequencing technology were used to detect sequence variation in the five exons and splicing regions of the introns of the VSX1 gene. The sequencing results were analyzed using DNAstar software. One novel missense heterozygous sequence variant (p.Arg131Pro) was found in the first exon of the VSX1 gene in one keratoconus patient. Another heterozygous sequence variant (p.Gly160Val) in the second exon was found in two keratoconus patients. These variants were not detected in the control subjects. In the third intron of the VSX1 gene, c.8326G > A nucleotide substitution (including heterozygous and homozygous change) was also discovered. The frequency of this variation did not differ significantly between patients and controls, it should belong to single-nucleotide polymorphism of the VSX1 gene. Bioinformatic analysis also predicted that one missense sequence variation (p.Arg131Pro) may not cause a pathogenic change. In this study, we added one novel missense sequence variation (p.Arg131Pro) in the coding region of the VSX1 gene to the range of VSX1 coding region variations observed in patients with sporadic keratoconus from China. Our work suggests that VSX1 sequence variants might be involved in the pathogenesis of sporadic keratoconus, but their precise role in disease causation requires further investigation.

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Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 33%
Student > Postgraduate 2 22%
Lecturer > Senior Lecturer 1 11%
Researcher 1 11%
Professor > Associate Professor 1 11%
Other 1 11%
Readers by discipline Count As %
Medicine and Dentistry 3 33%
Agricultural and Biological Sciences 2 22%
Biochemistry, Genetics and Molecular Biology 2 22%
Neuroscience 1 11%
Unspecified 1 11%
Other 0 0%

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 28 September 2017.
All research outputs
#10,493,870
of 11,841,124 outputs
Outputs from BMC Ophthalmology
#423
of 629 outputs
Outputs of similar age
#228,408
of 270,536 outputs
Outputs of similar age from BMC Ophthalmology
#9
of 12 outputs
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