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Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population

INK4 locus at chromosome 9p21 has been reported to be associated with primary open angle glaucoma (POAG) and its subtypes along with the associated optic disc parameters across the populations of European, Japanese and African ancestries. The locus encodes three tumor suppressor genes namely CDKN2A,...

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Autores principales: Vishal, Mansi, Sharma, Anchal, Kaurani, Lalit, Chakraborty, Subhadip, Ray, Jharna, Sen, Abhijit, Mukhopadhyay, Arijit, Ray, Kunal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038833/
https://www.ncbi.nlm.nih.gov/pubmed/24875940
http://dx.doi.org/10.1038/srep05115
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author Vishal, Mansi
Sharma, Anchal
Kaurani, Lalit
Chakraborty, Subhadip
Ray, Jharna
Sen, Abhijit
Mukhopadhyay, Arijit
Ray, Kunal
author_facet Vishal, Mansi
Sharma, Anchal
Kaurani, Lalit
Chakraborty, Subhadip
Ray, Jharna
Sen, Abhijit
Mukhopadhyay, Arijit
Ray, Kunal
author_sort Vishal, Mansi
collection PubMed
description INK4 locus at chromosome 9p21 has been reported to be associated with primary open angle glaucoma (POAG) and its subtypes along with the associated optic disc parameters across the populations of European, Japanese and African ancestries. The locus encodes three tumor suppressor genes namely CDKN2A, ARF, CDKN2B and a long non-coding RNA CDKN2B-AS1 (also known as ANRIL). Here, we report association study of 34 SNPs from INK4 locus with POAG in a population of Indo-European ancestry from the eastern part of India (350 patients and 354 controls). With 81% power to detect genetic association we observed only nominal association of rs1011970 (uncorrected p = 0.048) with POAG and rs10120688 (uncorrected p = 0.048) in patients without a high intra-ocular pressure (IOP<21 mm of Hg) compared to controls. This study, in contrast to the previous reports, suggests lack of significant genetic association of INK4 locus with POAG in East Indian population which needs to be replicated in larger studies in diverse world populations.
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spelling pubmed-40388332014-05-30 Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population Vishal, Mansi Sharma, Anchal Kaurani, Lalit Chakraborty, Subhadip Ray, Jharna Sen, Abhijit Mukhopadhyay, Arijit Ray, Kunal Sci Rep Article INK4 locus at chromosome 9p21 has been reported to be associated with primary open angle glaucoma (POAG) and its subtypes along with the associated optic disc parameters across the populations of European, Japanese and African ancestries. The locus encodes three tumor suppressor genes namely CDKN2A, ARF, CDKN2B and a long non-coding RNA CDKN2B-AS1 (also known as ANRIL). Here, we report association study of 34 SNPs from INK4 locus with POAG in a population of Indo-European ancestry from the eastern part of India (350 patients and 354 controls). With 81% power to detect genetic association we observed only nominal association of rs1011970 (uncorrected p = 0.048) with POAG and rs10120688 (uncorrected p = 0.048) in patients without a high intra-ocular pressure (IOP<21 mm of Hg) compared to controls. This study, in contrast to the previous reports, suggests lack of significant genetic association of INK4 locus with POAG in East Indian population which needs to be replicated in larger studies in diverse world populations. Nature Publishing Group 2014-05-30 /pmc/articles/PMC4038833/ /pubmed/24875940 http://dx.doi.org/10.1038/srep05115 Text en Copyright © 2014, Macmillan Publishers Limited. All rights reserved http://creativecommons.org/licenses/by-nc-nd/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. The images in this article are included in the article's Creative Commons license, unless indicated otherwise in the image credit; if the image is not included under the Creative Commons license, users will need to obtain permission from the license holder in order to reproduce the image. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/
spellingShingle Article
Vishal, Mansi
Sharma, Anchal
Kaurani, Lalit
Chakraborty, Subhadip
Ray, Jharna
Sen, Abhijit
Mukhopadhyay, Arijit
Ray, Kunal
Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population
title Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population
title_full Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population
title_fullStr Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population
title_full_unstemmed Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population
title_short Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population
title_sort evaluation of genetic association of the ink4 locus with primary open angle glaucoma in east indian population
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038833/
https://www.ncbi.nlm.nih.gov/pubmed/24875940
http://dx.doi.org/10.1038/srep05115
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