Evaluation of genetic association of the INK4 locus with primary open angle glaucoma in East Indian population.
Evaluation of genetic association of the INK4 locus with primary open angle glaucoma in East Indian population.
复制标题
INK4 基因座与东印度人群原发性开角型青光眼遗传关联的评估。
DOI：
10.1038/srep05115
复制
发表时间：
2014
影响因子：
4.6
通讯作者：
Ray,Kunal
中科院分区：
文献类型：
--
作者：
Vishal,Mansi;Sharma,Anchal;Kaurani,Lalit;Chakraborty,Subhadip;Ray,Jharna;Sen,Abhijit;Mukhopadhyay,Arijit;Ray,Kunal
据报道，在欧洲、日本和非洲祖先人群中，染色体9p21上的INK4位点与原发性开角型青光眼（POAG）及其亚型以及相关视盘参数有关。该位点编码三种肿瘤抑制基因，即cdkn2a、ARF、CDKN2Band和长链非编码RNACDKN2B-AS1（也称为ANRIL）。在此，我们报告了来自印度东部印欧血统人群（350名患者和354名对照）的INK4位点34个snp与POAG的关联研究。与对照组相比，在没有高眼压（IOP<21 mm Hg）的患者中，我们观察到rs1011970（未校正p = 0.048）与POAG只有名义关联（未校正p = 0.048）， rs10120688（未校正p = 0.048）。与之前的报道相反，本研究表明，在东印度人群中，INK4位点与POAG缺乏显著的遗传关联，这需要在不同的世界人群中进行更大规模的研究。
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 namelyCDKN2A,ARF,CDKN2Band a long non-coding RNACDKN2B-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.