|
rs1333037
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.
|
26752265 |
2016 |
|
rs2041895
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.
|
26752265 |
2016 |
|
rs284491
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.
|
26752265 |
2016 |
|
rs28939688
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Retinal ganglion cells (RGCs) were created from induced pluripotent stem cells derived from a healthy individual (wild-type [WT]-iPSCs) and from a patient with NTG due to OPTNE50K (E50K-iPSCs) mutation.
|
29847634 |
2018 |
|
rs28939688
|
|
|
0.070 |
GeneticVariation |
BEFREE |
This phenomenon was consistent with the results seen in neurons derived from induced pluripotent stem cells (iPSCs) from E50K mutation-carrying NTG patients.
|
23669351 |
2013 |
|
rs28939688
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The E50K sequence variant was identified in one individual from Chile with normal tension glaucoma, and the 691_692insAG variant was found in one Ashkenazi Jewish individual from Russia.
|
17293779 |
2007 |
|
rs28939688
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Mutations in OPTN such as Glu50-->Lys (E50K) have been reported in patients, particularly those with normal pressure glaucoma.
|
17148662 |
2006 |
|
rs28939688
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The E50K mutation seems to be associated with a severe form of LTG, and although rare, the identification of this sequence variant in patients at risk may help direct appropriate therapy.
|
16988596 |
2006 |
|
rs28939688
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In this study, subjects with glaucoma who had the OPTN E50K mutation were found to have NTG that appeared to be more severe than that in a control group of subjects with NTG without this mutation.
|
16043855 |
2005 |
|
rs28939688
|
|
|
0.070 |
GeneticVariation |
BEFREE |
This study provides some additional evidence for the association of the Glu50Lys OPTN sequence variation with familial normal tension glaucoma.
|
14597044 |
2003 |
|
rs11258194
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our analysis of the combined data provides statistically significant evidence of association of M98K with normal tension glaucoma in Asian populations, but not in Caucasian populations; however, the validity of this conclusion is questionable because of large differences in allele frequencies between and within populations.
|
17293779 |
2007 |
|
rs11258194
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The presence of the Met98Lys variant was determined in a total of 498 (128 with normal-tension glaucoma (NTG)) patients with OAG, 29 patients who had myocilin-related OAG, 101 patients from ADOA pedigrees, 157 patients from LHON pedigrees and 218 examined OAG age-matched normal controls.
|
16885188 |
2006 |
|
rs11258194
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The frequency of the OPTN M98K mutation in an additional 120 patients (70 HTG and 50 normal tension glaucoma [NTG]) was analyzed by restriction enzyme digestion.
|
16885925 |
2006 |
|
rs11258194
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The association of the allelic variation (Met98Lys) in the OPTN gene and the prevalence of POAG and NTG in unrelated Japanese patients suggest that they are involved in the pathogenesis of POAG and NTG.
|
15226658 |
2004 |
|
rs11258194
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Met98Lys is a risk-associated alteration for open-angle glaucoma, including POAG and NTG, in the Japanese population as initially reported.
|
15370540 |
2004 |
|
rs11258194
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The Met98Lys change may be associated with a fraction of normal-tension glaucoma in patients of Japanese ethnicity.
|
14597044 |
2003 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This meta-analysis aims to comprehensively evaluate the association between total homocysteine (tHcy) levels, serum folic acid, vitamin B12, vitamin B6 levels, methylenetetrahydrofolate reductase (MTHFR) C677T genotype, and risk of normal-tension glaucoma (NTG).
|
26171850 |
2016 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In this study, we have measured plasma homocysteine and C677T methylenetetrahydrofolate reductase (MTHFR) mutation, the commonest genetic cause of elevated plasma homocysteine, in patients with PXFG, primary open-angle glaucoma (POAG), and normal tension glaucoma (NTG).
|
19142139 |
2009 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This suggests that 677C>T polymorphism of the MTHFR gene can be a genetic risk factor of NTG in Korean population.
|
17618244 |
2009 |
|
rs2149356
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results revealed that TLR4 rs1927911 A/G, rs12377632 C/T, and rs2149356 G/T significantly decrease the risk of POAG and NTG in allele contrast models 0.71-, 0.71-, and 0.67-fold, respectively.
|
30877182 |
2019 |
|
rs1063192
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, methylation at CpG sites in CDKN2B was also associated with genotype at rs1063192, which is known to confer risk for NTG.
|
29265947 |
2018 |
|
rs2070744
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results indicates that eNOS rs2070744 can be associated with NTG patients with DH.
|
28777225 |
2017 |
|
rs1799983
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Genotype frequencies are similar for both the eNOS G894T and T-786C polymorphisms in NTG and HTG patients.
|
26807726 |
2016 |
|
rs1063192
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG, and the rs1547014 (CHEK2) is a genetic risk factor for HTG.
|
22584021 |
2012 |
|
rs1799983
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Three hundred Caucasian patients with HTG and 127 with NTG were enrolled in the study and genotyped for G894T (rs1799983) and T-786C (rs2070744) in NOS3 and C242T (rs4673) in CYBA.
|
22919264 |
2012 |