L KAURANI

M VISHAL

J RAY

A SEN

A MUKHOPADHYAY

Fulltext

University of Calcutta (informally known as Calcutta University or CU) is a collegiate public state university located in Kolkata, West Bengal, India.&nbsp;Within India it is recognized as a &quot;Five-Star University&quot; and accredited &quot;A&quot; Grade by National Assessment and Accreditation Council.

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The University of Calcutta has secured the Fifth position among the Universities of India in the prestigious &quot;Indian University Ranking 2019&quot; list, released by the NIRF of the Ministry of Human Resource Development, Government of India.

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It was established on 24 January 1857, and was one of the first institutions in Asia to be established as a multidisciplinary and Western-style university. Its alumni and faculty include several heads of state, heads of government, social reformers, prominent artists, only academy award winner and Dirac medal winner in India, many Fellows of the Royal Society and five Nobel laureates as of 2019 which is highest in South Asia.

University Of Calcutta

Journal of Genetics

Purpose. Large copy number variations (CNV) can contribute to increased burden for neurodegenerative diseases. In this study, we analyzed the genome-wide burden of large CNVs &gt; 100 kb in primary open angle glaucoma (POAG), a neurodegenerative disease of the eye that is the largest cause of irreversible blindness. Methods. Genome-wide analysis of CNVs &gt; 100 kb were analyzed in a total of 1720 individuals, including an Indian cohort (347 POAG cases and 345 controls) and a Caucasian cohort (624 cases and 404 controls). All the CNV data were obtained from experiments performed on Illumina 660W-Quad (infinium) arrays. Results. We observed that for both the populations CNVs &gt; 1 Mb was significantly enriched for gene-rich regions unique to the POAG cases (P &lt; 10-11). In the Indian cohort CNVs &gt; 1 Mb (39 calls) in patients influenced 125 genes while in controls 31 such CNVs influenced only 5 genes with no overlap. In both cohorts we observed 1.9-fold gene enrichment in patients for deletions compared to duplications, while such a bias was not observed in controls (0.3-fold). Overall duplications &gt; 1 Mb were more than deletions (Del/Dup = 0.82) confirming that the enrichment of gene-rich deletions in patients was associated with the disease. Of the 39 CNVs &gt; 1 Mb from Indian patients, 28 (72%) also were implicated in other neurodegenerative disorders, like autism, schizophrenia, sensorineural hearing loss, and so forth. We found one large duplication encompassing CNTN4 gene in Indian and Caucasian POAG patients that was absent in the controls. Conclusions. To our knowledge, our study is the first report on large CNV bias for gene-rich regions in glaucomatous neurodegeneration, implicating its impact across populations of contrasting ethnicities. We identified CNTN4 as a novel candidate gene for POAG. © 2014 The Association for Research in Vision and Ophthalmology, Inc.

Investigative Ophthalmology and Visual Science

Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins

Progress in Retinal and Eye Research

The vast complexity of primary open angle glaucoma: Disease genes, risks, molecular mechanisms and pathobiology

Human Molecular Genetics

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

British Journal of Ophthalmology

The number of people with glaucoma worldwide in 2010 and 2020

Methods

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin

Journal	Data powered by TypesetJournal of Genetics
Publisher	Data powered by TypesetSpringer India
ISSN	0022-1333
Open Access	Yes