|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis confirmed the association of rs10483727 and rs33912345 in SIX1-SIX6 with POAG.
|
31284308 |
2019 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we tested single marker and haplotype-based associations of 11 tagging single nucleotide polymorphisms (SNPs) covering the SIX6 locus with POAG in a Hong Kong Chinese cohort (N = 1402).
|
30586556 |
2019 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The protein-coding SIX6 variant rs33912345, previously associated with POAG, has a functional effect on glaucoma-associated optic nerve head traits in Europeans.
|
30005032 |
2018 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations p.R116G and p.R116E were observed in the SIX6 gene of patients with POAG.
|
29405792 |
2018 |
|
Glaucoma, Primary Open Angle
|
0.100 |
Biomarker
|
disease |
BEFREE |
After combining the genome-wide association study and the two replication sets, we identified 11 POAG-associated loci, including 4 known (CDKN2B-AS1, ABCA1, SIX6 and AFAP1) and 7 novel loci (FNDC3B, ANKRD55-MAP3K1, LMX1B, LHPP, HMGA2, MEIS2 and LOXL1) at a genome-wide significance level (P < 5.0×10-8), bringing the total number of POAG-susceptibility loci to 22.
|
29452408 |
2018 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polymorphism rs10483727 in the SIX1/SIX6 Gene Locus Is a Risk Factor for Primary Open Angle Glaucoma in a Saudi Cohort.
|
29190129 |
2018 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Glaucoma, Primary Open Angle
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) at different loci including CAV1/CAV2, TMCO1, CDKN2B-AS1, CDC7-TGFBR3, SIX1/SIX6, GAS7 and ATOH7 to be associated with POAG and its related quantitative traits (endophenotypes).
|
26690118 |
2015 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Glaucoma, Primary Open Angle
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the endophenotypes of primary open angle glaucoma in Indian population.
|
25798827 |
2015 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, to our knowledge for the first time, we have identified a clinical feature in POAG patients that appears to be dependent upon SIX6 genotype: patients who are homozygous for the SIX6 risk allele (His141) have a statistically thinner retinal nerve fiber layer than patients homozygous for the SIX6 non-risk allele (Asn141).
|
24875647 |
2014 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using 1000 genomes-based imputation of four independent population-based cohorts in the Netherlands, we identified a missense variant rs33912345 (rs33912345" genes_norm="4990">His141Asn) in SIX6 associated with VCDR (Pmeta = 7.74 × 10(-7), n = 11 473) and POAG (Pmeta = 6.09 × 10(-3), n = 292).
|
24150847 |
2014 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Glaucoma, Primary Open Angle
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three (3) of the six (6) secreted mutations caused familial POAG; these were the R126W, T377M and A427T mutants.
|
16466712 |
2006 |