rs4246215 is targeted by hsa-miR1236 to regulate FEN1 expression but is not associated with Fuchs' endothelial corneal dystrophy

Gargi Gouranga Nanda; Malloji Vinay Kumar; Laxmipriya Pradhan; Biswajit Padhy; Satabdi Sundaray; Sujata Das; Debasmita Pankaj Alone

doi:10.1371/journal.pone.0204278

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rs4246215 is targeted by hsa-miR1236 to regulate FEN1 expression but is not associated with Fuchs' endothelial corneal dystrophy

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rs4246215 is targeted by hsa-miR1236 to regulate FEN1 expression but is not associated with Fuchs' endothelial corneal dystrophy

Gargi Gouranga Nanda, Malloji Vinay Kumar, Laxmipriya Pradhan, Biswajit Padhy, Satabdi Sundaray, Sujata Das and Debasmita Pankaj Alone

PloS one, Vol.13(9), p.e0204278

09/27/2018

DOI: 10.1371/journal.pone.0204278

PMID: 30260965

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Abstract

Fuchs' Endothelial Corneal Dystrophy (FECD) is a genetically complex disorder that affects individuals above 40 years of age; molecular pathogenesis of its associated genes is poorly understood. This study aims at assessing the association of flap endonuclease 1 (FEN1) polymorphisms, c.-69G>A (rs174538) and c.4150G>T (rs4246215) with FECD. Comet assay analysis reaffirmed that endogenous DNA damage was greater in FECD individuals. However, genetic analysis in 79 FECD patients and 234 unrelated control individuals prove that both the FEN1 polymorphisms, c.-69G>A (rs174538) and c.4150G>T (rs4246215), failed to show any genetic association with the FECD disease phenotype. In silico analysis and luciferase reporter assay identified 'G' allele of the 3'UTR located FEN1 polymorphism c.4150G>T as the target for binding of hsa-miR-1236-3p. This study indicates that although FEN1 polymorphisms, c.-69G>A (rs174538) and c.4150G>T (rs4246215) are not genetically associated with FECD, its transcript regulation reported in other diseases such as lung cancer which are genetically associated by rs4246215 could be mediated through miRNA, hsa-miR-1236-3p.

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Title: Subtitle: rs4246215 is targeted by hsa-miR1236 to regulate FEN1 expression but is not associated with Fuchs' endothelial corneal dystrophy
Creators: Gargi Gouranga Nanda - National Institute of Science Education and Research
Malloji Vinay Kumar - National Institute of Science Education and Research
Laxmipriya Pradhan - National Institute of Science Education and Research
Biswajit Padhy - National Institute of Science Education and Research
Satabdi Sundaray - L V Prasad Eye Institute
Sujata Das - L V Prasad Eye Institute
Debasmita Pankaj Alone - National Institute of Science Education and Research
Resource Type: Journal article
Publication Details: PloS one, Vol.13(9), p.e0204278
DOI: 10.1371/journal.pone.0204278
PMID: 30260965
ISSN: 1932-6203
eISSN: 1932-6203
Publisher: Public Library Science
Number of pages: 10
Grant note: Department of Atomic Energy (Mumbai, Maharashtra, India) University Grants Commission; University Grants Commission, India NISER National Institute of Science Education and Research (NISER; Khurda, Odisha, India) 5/4/6/03/Oph./2015-NCD-II / Indian Council of Medical Research (Ansari Nagar, New Delhi, India)
Language: English
Date published: 09/27/2018
Academic Unit: Internal Medicine
Record Identifier: 9985157627902771

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