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Analysis of COCH and TNFA Variants in East Indian Primary Open-Angle Glaucoma Patients
Joint Authors
Ray, Kunal
Chakraborty, Subhadip
Mookherjee, Suddhasil
Sen, Abhijit
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-08-26
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Glaucoma represents a heterogeneous group of optic neuropathies with a complex genetic basis.
It is the second-largest cause of blindness in the world that reduces vision without warning and often without symptoms.
Among 3 major subtypes of glaucoma, primary open-angle glaucoma (POAG) is the most common form.
The focus of this study is to understand the molecular basis of the disease among Indian patients with respect to two genes, Cochlin (COCH) and tumor necrosis factor alpha (TNFA), selected based on reports of possible association with POAG.
The genes were screened in patients and controls by PCR and direct sequencing.
Although two novel changes (–450 C/T and –79 G/G) were identified in the 5′upstream region of COCH, no causal variant could be identified in either gene.
–450 C/T was detected in 3 patients and 2 controls and –79 G/C in a single patient.
Further, we did not observe significant association with the promoter SNPs of TNFA that had been previously reported to be associated with POAG pathogenesis.
Thus, our study suggests lack of association of both COCH and TNFA with POAG pathogenesis.
American Psychological Association (APA)
Chakraborty, Subhadip& Mookherjee, Suddhasil& Sen, Abhijit& Ray, Kunal. 2013. Analysis of COCH and TNFA Variants in East Indian Primary Open-Angle Glaucoma Patients. BioMed Research International،Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1031120
Modern Language Association (MLA)
Chakraborty, Subhadip…[et al.]. Analysis of COCH and TNFA Variants in East Indian Primary Open-Angle Glaucoma Patients. BioMed Research International No. 2013 (2013), pp.1-7.
https://search.emarefa.net/detail/BIM-1031120
American Medical Association (AMA)
Chakraborty, Subhadip& Mookherjee, Suddhasil& Sen, Abhijit& Ray, Kunal. Analysis of COCH and TNFA Variants in East Indian Primary Open-Angle Glaucoma Patients. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1031120
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1031120