|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The odds ratio of p.Gln368Ter in patients with primary open-angle glaucoma (POAG) was 6.76 (95% CI, 4.05-11.29); glaucoma (POAG, self-reported glaucoma, and unspecified glaucoma), 4.40 (95% CI, 3.38-5.71); OHT, 3.56 (95% CI, 2.53-4.92); and OHT and glaucoma combined, 4.18 (95% CI, 3.05-5.67).
|
30267046 |
2019 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Mutations (Q368X, Y437H, A427T) were selected to represent proteins with differing POAG-causing potency (Q368X > Y437H > A427T) and intracellular retention behavior (Q368X and Y437H retained, A427T released).
|
26396484 |
2015 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gln368Ter was also accurately imputed in a further set of 1801 individuals without POAG.
|
26237198 |
2015 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Cellular processing of myocilin.
|
24732711 |
2014 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
There is strong evidence that myocilin polymorphisms are associated with POAG susceptibility, and the prevalence of myocilin mutations might be ethnicity-dependent in Caucasians for Q368X and in Asians for T353I.
|
23029558 |
2012 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations.
|
23304066 |
2012 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.
|
22933836 |
2012 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations.
|
23304066 |
2012 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We identified a proband with primary open angle glaucoma and the p.Gln368X MYOC mutation.
|
20021252 |
2010 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
In the primary open angle glaucoma family described here, we documented a wide range in clinical symptoms, demonstrating a highly variable penetrance of the MYOC p.Gln368X mutation.
|
20021252 |
2010 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In subjects with the GLC1L disease haplotype (with or without Gln368STOP), the POAG phenotype was characterized by a mean age at diagnosis of 54.3 years, and mean maximum recorded intraocular pressure (IOP) of 23.9 mmHg.
|
19723129 |
2009 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.
|
19023451 |
2008 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.
|
17615537 |
2007 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The Asp380 amino acid residue appears to be important in myocilin function based on the finding that substitution of this amino acid with four different amino acids (His, Ala, Asn, or Gly) all result in a similar presentation of POAG that is intermediate between the more severe clinical presentations observed in individuals with the Pro370Leu or Lys423Glu variant and the milder findings in patients with the Gln368Stop mutation.
|
17499207 |
2007 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Myocilin variants in Indian patients with open-angle glaucoma.
|
17562996 |
2007 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genome-wide multipoint variance-components linkage analyses of maximum recorded intraocular pressure (IOP) and maximum vertical cup-to-disc ratio were conducted on data from a single, large Australian POAG pedigree that has been found to segregate the myocilin Q368X mutation in some individuals.
|
16186355 |
2005 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The absence of the POAG-associated Q368X mutation and the presence of particular polymorphisms, including P13P + L159L and T325T, could be specific features of the MYOC sequence in African populations.
|
12868033 |
2003 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The GLC1A Thr377Met mutation is associated with POAG that, in the pedigrees studied, had a younger age at onset and higher peak intraocular pressure than in pedigrees with the more common Gln368STOP mutation.
|
12912696 |
2003 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
A single mutation, Q368X (c.1102C>T), accounted for the majority (12/17) of these mutations, corresponding to a frequency of 5% among POAG patients, the highest ever reported for this mutation.
|
12872267 |
2003 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The common mutation Gln368Stop found in the Western population was not observed in the POAG cases screened in Indian population.
|
14627955 |
2003 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Founder TIGR/myocilin mutations for glaucoma in the Québec population.
|
12189160 |
2002 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.
|
11815346 |
2002 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
There is no statistically significant difference between the onset and clinical course of POAG and OHT caused by the Gln368Stop mutation and POAG and OHT not associated with the mutation.
|
12470758 |
2002 |
|
rs74315329
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
For Gln368STOP carriers, age-related penetrance for OHT or POAG was 72% at age 40 years and 82% at age 65 years.
|
11535458 |
2001 |
|
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The GLC1A Gln368STOP mutation is associated with POAG, which in the pedigrees studied is of a younger age of onset and higher peak IOP than non-mutation glaucoma cases.
|
11535458 |
2001 |