|
rs74315329
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Thus, our study suggests a much lower penetrance for rs74315329 for ocular hypertension (and thus glaucoma), in comparison with that reported previously.
|
28038983 |
2017 |
|
rs74315329
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A 34-year-old woman with marked ocular hypertension was found to carry Gln368STOP and Thr377Met MYOC mutations.
|
23304066 |
2012 |
|
rs74315329
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Eight of the 29 Gln368STOP carriers with OHT or POAG had undergone trabeculectomy.
|
11535458 |
2001 |
|
rs566289099
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A 34-year-old woman with marked ocular hypertension was found to carry Gln368STOP and Thr377Met MYOC mutations.
|
23304066 |
2012 |
|
rs566289099
|
|
|
0.020 |
GeneticVariation |
BEFREE |
From the 4 pedigrees carrying the Thr377Met mutation, 23 individuals with either ocular hypertension (OHT) or POAG were found, with a mean +/- SD age at diagnosis of 41.2 +/- 11.5 years, and a mean peak intraocular pressure of 31.7 +/- 9.9 mm Hg.
|
12912696 |
2003 |
|
rs74315328
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight (36.4%) family members harboured heterozygous Y437H mutation, of whom seven (87.5%) were glaucomatous and one (12.5%) had OHT.
|
30612094 |
2019 |
|
rs2761884
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With the exception of a weak association between the BMP4 tagging SNP rs2761884 and the combined patient group HTG+OHT that did not withstand permutation testing (uncorrected p=0.0400, corrected p=0.1320), no associations (p<0.05) were identified between the patient groups (HTG and OHT) and FOXC1, TGFβ2, and BMP4 alleles and haplotypes compared to the control group.
|
22736943 |
2012 |
|
rs7854658
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant SNP associations were found for each patient group: rs7859156 was associated with HTG (P=0.0015; odds ratio [OR], 0.64) and OHT (P=0.0482; OR, 0.59); rs7854658 was associated with NTG (P=0.0041; OR, 0.30).
|
18952915 |
2009 |
|
rs7859156
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A protective ATG haplotype (including rs7859156) was less prevalent in patients with raised intraocular pressure (22.7% in combined HTG+OHT group vs. 31.7% in controls; P=0.0005), and in patients with glaucoma (22.9% in combined HTG+NTG group vs. 31.7% in controls; P=0.0008).
|
18952915 |
2009 |
|
rs56149945
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In cases where prednisolone acetate was administered, we found a significant correlation between N363S heterozygosity and steroid-induced ocular hypertension.
|
17563720 |
2007 |
|
rs4986888
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found three different predicted amino acid substitutions (Ala189Pro, Ala330Ser, and Ala443Gly) in three (8.1%) OHT subjects, and seven different mutations (Ser28Trp, Gly61Glu, Tyr81Asn, Gln144His, Arg145Trp, Glu229Lys, and Val409Phe) in nine (10.9%) glaucoma patients.
|
16862072 |
2006 |