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Fumihiko Mabuchi, Yoichi Sakurada, Kenji Kashiwagi, Zentaro Yamagata, Hiroyuki Iijima; Association between primary open-angle glaucoma and genetic variants associated with normal tension glaucoma. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6227.
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To assess the association between primary open-angle glaucoma (POAG), including normal tension glaucoma (NTG) and high tension glaucoma (HTG), and the genetic variants associated with NTG.
One hundred and ninety three Japanese patients with NTG, 190 patients with HTG, and 184 control subjects without glaucoma were analyzed for 6 genetic variants associated with NTG; rs3213787 (near gene: SRBD1), rs735860 (ELOVL5), rs1063192 (CDKN2B/CDKN2B-AS1), rs10483727 (SIX1/SIX6), rs1900004 (ATOH7), and rs10451941 (OPA1). The risk (odds ratio) of NTG for each genetic variant was calculated using logistic regression model. The number of genetic variants with risk allele and products of the odds ratios of analyzed genetic variants for each patient were compared between the patients with NTG or HTG and the control subjects.
The number of genetic variants with risk allele in patients with NTG (4.0 ± 1.1, mean ± standard deviation) and HTG (3.8 ± 1.1) were significantly higher (P < 0.0001 and P = 0.0058 respectively, Student’s t-test) than that (3.5 ± 1.1) in the control subjects. Similarly, products of the odds ratios in patients with NTG (8.7 ± 4.9) and HTG (7.9 ± 4.7) were significantly higher (P < 0.0001 and P = 0.0039 respectively, Student’s t-test) than that (6.6 ± 4.4) in the control subjects.
These data support that POAG is a complex disorder by multiple genetic factors, and suggest that not only genetic variants associated with intraocular pressure (IOP) elevation (IOP-related genetic factors), but also genetic variants associated with NTG (non-IOP-related genetic factors) contribute to the pathogenesis of HTG.
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