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Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma

Overview of attention for article published in BMC Medical Genomics, March 2016
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Title
Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma
Published in
BMC Medical Genomics, March 2016
DOI 10.1186/s12920-016-0177-6
Pubmed ID
Authors

Mansi Vishal, Anchal Sharma, Lalit Kaurani, Giovanna Alfano, Suddhasil Mookherjee, Kiran Narta, Jyoti Agrawal, Iman Bhattacharya, Susanta Roychoudhury, Jharna Ray, Naushin H. Waseem, Shomi S. Bhattacharya, Analabha Basu, Abhijit Sen, Kunal Ray, Arijit Mukhopadhyay

Abstract

Glaucoma is the largest cause of irreversible blindness affecting more than 60 million people globally. The disease is defined as a gradual loss of peripheral vision due to death of Retinal Ganglion Cells (RGC). The RGC death is largely influenced by the rate of aqueous humor production by ciliary processes and its passage through the trabecular meshwork (TM) in the anterior part of the eye. Primary open angle glaucoma (POAG), the most common subtype, is a genetically complex disease. Multiple genes and many loci have been reported to be involved in POAG but taken together they explain less than 10 % of the patients from a genetic perspective warranting more studies in different world populations. The purpose of this study was to perform genome-wide search for common variants associated with POAG in an east-Indian population. The study recruited 746 POAG cases and 697 controls distributed into discovery and validation cohorts. In the discovery phase, genome-wide genotype data was generated on Illumina Infinium 660 W-Quad platform and the significant SNPs were genotyped using Illumina GGGT assay in the second phase. Logistic regression was used to test association in the discovery phase to adjust for population sub-structure and chi-square test was used for association analysis in validation phase. Publicly available expression dataset for trabecular meshwork was used to check for expression of the candidate gene under cyclic mechanical stress. Western blot and immunofluorescence experiments were performed in human TM cells and murine eye, respectively to check for expression of the candidate gene. Meta-analysis of discovery and validation phase data revealed the association of rs7916852 in MPP7 gene (p = 5.7x10(-7)) with POAG. We have shown abundant expression of MPP7 in the HTM cells. Expression analysis shows that upon cyclic mechanical stress MPP7 was significantly down-regulated in HTM (Fold change: 2.6; p = 0.018). MPP7 protein expression was also found to be enriched in the ciliary processes of the murine eye. Using a genome-wide approach we have identified MPP7 as a novel candidate gene for POAG with evidence of its expression in relevant ocular tissues and dysregulation under mechanical stress possibly mimicking the disease scenario.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 30 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 23%
Researcher 5 17%
Other 4 13%
Student > Doctoral Student 3 10%
Student > Bachelor 2 7%
Other 3 10%
Unknown 6 20%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 30%
Medicine and Dentistry 5 17%
Agricultural and Biological Sciences 3 10%
Psychology 1 3%
Computer Science 1 3%
Other 4 13%
Unknown 7 23%

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 12 April 2016.
All research outputs
#5,707,965
of 7,540,906 outputs
Outputs from BMC Medical Genomics
#324
of 411 outputs
Outputs of similar age
#194,779
of 276,276 outputs
Outputs of similar age from BMC Medical Genomics
#11
of 13 outputs
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