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Upon diverse forms of cellular stress the steady state levels and transcriptional activity of at codon 72 (rs1042522-Arg72Pro) in a Chinese population .
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There have been inconsistent reports regarding increased risk of POAG and a polymorphism (Arg72Pro) within the tumor suppressor gene, = 9.56, p=0.008).
Interestingly, we found that the frequency of the arginine allele was even higher in the normal-tension glaucoma (NTG) subtype compared to high-tension POAG (0.81 versus 0.76). This variant has increased apoptotic potential, thus the retinal ganglion cells in carriers of the arginine allele may have greater susceptibility to apoptosis.
However, these mutations only account for 3-5% of all POAG cases .
Thus, the genetic basis of the majority of POAG cases remains unknown.
Examination of a 16 base pair (bp) insertion/deletion polymorphism located within exon 4 SNP is associated with POAG [16,18].
However, it should be noted that each of these studies examined different ethnicities from outside of United States.
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