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

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Title Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Populati
 
Creator Vishal, Mansi
Sharma, Anchal
Kaurani, Lalit
Chakraborty, Subhadip
Ray, Jharna
Sen, Abhijit
Mukhopadhyay, Arijit
Ray, Kunal
 
Subject Molecular & Human Genetics
 
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 withPOAGin 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 p50.048) with POAG and rs10120688
(uncorrected p50.048) 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.
 
Date 2014
 
Type Article
PeerReviewed
 
Format application/pdf
 
Identifier http://www.eprints.iicb.res.in/2183/1/SCIENTIFIC_REPORTS___V_4_____Article_Number_5115;2014[99].pdf
Vishal, Mansi and Sharma, Anchal and Kaurani, Lalit and Chakraborty, Subhadip and Ray, Jharna and Sen, Abhijit and Mukhopadhyay, Arijit and Ray, Kunal (2014) Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Populati. Scientific Reports, 4 (5115).
 
Relation http://dx.doi.org/10.1038/srep05115
http://www.eprints.iicb.res.in/2183/