rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The MYOC p.Gln368Ter variant confers a very high-risk effect size for advanced glaucoma; the risk is lower in nonadvanced glaucoma and OHT.
|
30267046 |
2019 |
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These data suggest that the p.Gln368Ter mutation may be associated with glaucoma in patients with normal IOPs as well as in patients with IOPs that are greater than 21 mm Hg.
|
30816940 |
2019 |
rs74315329
|
|
A |
0.800 |
GeneticVariation |
GWASCAT |
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
|
30104761 |
2018 |
rs74315329
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A case-control design was adopted.Subjects from Australian pedigrees known to have either the Gln368STOP myocilin mutation (cutoff age, <40 years) or the Thr377Met myocilin mutation (cutoff age, <30 years) were examined for signs of glaucoma.
|
17210861 |
2007 |
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Neither the individual homozygous for the Gln368STOP myocilin mutation nor her younger heterozygous siblings displayed any signs suggestive of glaucoma.
|
16458712 |
2006 |
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Of 11 group-1 relatives, three carried Q368X, one of whom already had glaucoma.
|
15338275 |
2004 |
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation.
|
12470758 |
2002 |
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 |
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The penetrance of glaucoma increases with age in Gln368stop carriers, but some remain unaffected at advanced age and others are affected at an early age.
|
10815160 |
2000 |
rs74315329
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Of these, the Gln368STOP mutation was highly associated with the development of glaucoma.
|
9804137 |
1998 |