|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Genome-wide association studies have previously identified a significant association between POAG and the SIX6 locus (rs10483727, odds ratio (OR) = 1.32, p = 3.87×10(-11)).
|
24875647 |
2014 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone may not be sufficient for the development of POAG, the association of these SNPs with a phenotypic feature in patients with NTG or HTG suggests that these loci contribute to the pathogenesis of POAG.
|
22584021 |
2012 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This meta-analysis confirmed the association of rs10483727 and rs33912345 in SIX1-SIX6 with POAG.
|
31284308 |
2019 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study replicated the association of POAG with two SNPs at the SIX1-SIX6 locus and demonstrated that SNPs, rs10483727 and rs33912345, are significantly associated with POAG, especially with NTG in patients aged above 40 years.
|
27260188 |
2016 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The SNPs rs4656461 and rs7555523 at TMCO1, rs523096 and rs2157719 at CDKN2B-AS1, as well as rs33912345 and rs10483727 at SIX1/SIX6 showed statistically significant association with POAG.
|
25711633 |
2015 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Previously, genome-wide significant evidence for the association of rs10483727 in SIX1-SIX6 locus with VCDR and subsequent POAG was found.
|
24150847 |
2014 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An additional cohort of 153 POAG cases was subsequently recruited to assess the association of the rs33912345:c.421A>C and rs10483727 variants with more prominent changes in two POAG diagnostic parameters: retinal nerve fiber layer thickness and vertical cup/disc ratio, using spectral domain optical coherence tomography.
|
28717659 |
2017 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The "T" allele of the rs10483727 polymorphism is an independent significant risk factor for POAG in the Saudi population.
|
29190129 |
2018 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition to confirmation of the association of the chromosome 9p21 locus [rs1063192, P= 5.2 × 10(-11), odds ratio (OR) = 0.75], and 14q23 (rs10483727, P = 9.49 × 10(-8), OR = 0.79) with POAG in Caucasians reported recently, we identified a suggestive-associated locus on 2q21 (rs7588567, P = 3.89 × 10(-7), OR = 0.85).
|
22419738 |
2012 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were also associated with POAG (P = 0.0006 and P = 0.0043 for rs1063192 and rs10483727, respectively). rs1063192, associated with smaller VCDR, had a protective effect (odds ratio [OR] = 0.73; 95% confidence interval [CI], 0.58-0.90), whereas rs10483727, associated with larger VCDR, increased POAG risk (OR = 1.33; 95% CI, 1.08-1.65).
|
21398277 |
2011 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 controls) identified significant associations between two loci and POAG: the CDKN2BAS region on 9p21 (rs2157719 [G], OR = 0.69 [95%CI 0.63-0.75], p = 1.86×10⁻¹⁸), and the SIX1/SIX6 region on chromosome 14q23 (rs10483727 [A], OR = 1.32 [95%CI 1.21-1.43], p = 3.87×10⁻¹¹).
|
22570617 |
2012 |
|
rs10483727
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, this study confirmed the association between two GWAS SNPs in SIX6 (rs33912345 and rs10483727) and POAG.
|
30586556 |
2019 |
|
rs4236601
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The A allele of CAV1 rs4236601 was found more frequently in the patients with POAG (p=0.008; OR=1.49) compared to the control individuals.
|
25489222 |
2014 |
|
rs4236601
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Association of single-nucleotide polymorphism rs4236601 near caveolin 1 and 2 with primary open-angle glaucoma: a meta-analysis.
|
24034151 |
2014 |
|
rs4236601
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We have thus confirmed the association of rs4236601 with POAG in different Chinese cohorts.
|
27297022 |
2016 |
|
rs4236601
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We found significant associations between 10 CAV1/CAV2 SNPs and POAG (top SNP, rs4236601; pooled P = 2.61 × 10(-7)).
|
24572674 |
2014 |
|
rs4236601
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A genome-wide association study has identified a common sequence variant at 7q31 (rs4236601 [A]) near the caveolin genes in patients with POAG.
|
22128235 |
2011 |
|
rs4236601
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The minor allele frequency (MAF) of rs4236601 was 0.3 in controls and 0.31 in POAG patients.
|
22876122 |
2012 |
|
rs4236601
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We detected no statistical difference when we compared the allele frequencies of rs4236601</span> between POAG patients and control subjects (p=0.5).
|
21321670 |
2011 |
|
rs4236601
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Large-scale genome-wide association studies have identified several susceptibility variants associated with the risk of primary open-angle glaucoma (POAG), among which rs4236601 (CAV1/CAV2) at chromosome 7q31 and rs2157719 at chromosome 9p21 (CDKN2B-AS1).
|
29111846 |
2018 |
|
rs4656461
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This study demonstrates that the TMCO1 rs4656461 variant is associated with POAG, PACG and PEXG in the Pakistani population.
|
25489222 |
2014 |
|
rs4656461
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The SNPs rs4656461 and rs7555523 at TMCO1, rs523096 and rs2157719 at CDKN2B-AS1, as well as rs33912345 and rs10483727 at SIX1/SIX6 showed statistically significant association with POAG.
|
25711633 |
2015 |
|
rs4656461
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Association of SNP rs4656461 with five clinical parameters was assessed in 1420 POAG cases using linear regression.
|
22714896 |
2012 |
|
rs1192415
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10(-8)).
|
25861811 |
2015 |
|
rs1192415
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The presence of the index SNP rs1192415 (TGFBR3-CDC7) was associated with VF progression in POAG patients.
|
26383992 |
2015 |