Glaucoma Genetics Scorecard
– 2003
Wallace L.M. Alward, M.D.
University of Iowa College of Medicine
Updated
December 10, 2003
Chromosomal locations
are typically discovered by linkage analysis within a large family
or a group of families. A linkage localizes a disease-causing
gene to a chromosomal region that may contain thousands of genes.
The strength of a linkage is determined by the logarithm of the
odds (lod score). A lod score over 3 is considered significant for linkage. Some
of the reported linkages (such as GLC1A) have been confirmed by
many laboratories and have very high lod
scores. Some other linkages have barely significant lod
scores and have never been confirmed. Some may ultimately prove
to be false.
When there is
a gene listed it means that a mutation in this gene has been reported
in a patient with the particular glaucoma. It may be a strong
association or it may be that a large series of patients with
a variety of glaucomas was screened
and a single patient was found to have a mutation. For example,
a large number of patients with a variety of open-angle glaucomas
was screened for myocilin
mutations. Of 60 patients with exfoliative
glaucoma, 1 (1.7%) had a myocilin mutation.
1
Myocilin mutations can be
found in patients with exfoliation syndrome but it is not a major
cause of this disease.
I have attempted
to make this as accurate and current as possible. I apologize
for any errors or omissions.
Glaucoma Genetics
Scorecard
The inheritance of diseases commonly associated with
glaucoma
By Disease
| Disease
(MIM#) |
Chromosome Location |
Ref. |
Gene
(MIM#) |
Approx.
% * |
Ref. |
|
|
|
|
|
|
OPEN ANGLE GLAUCOMAS |
|
|
|
|
|
Primary |
|
|
|
|
|
| Primary
Open Angle (with high IOP) |
|
|
|
|
|
| GLC1A
(137750) |
1q23-25 |
2
|
myocilin (601652) |
3.3
1
|
3
|
| GLC1B
(137760) |
2cen-q13 |
4
|
|
|
|
| GLC1C
(601682) |
3q21-24 |
5
|
|
|
|
| GLC1D
(602429) |
8p23 |
6
|
|
|
|
| GLC1F (603383) |
7q35-36 |
7
|
|
|
|
| Juvenile open angle (137750) |
|
|
|
|
3
|
| Autosomal dominant |
1q23-25 |
3
|
myocilin (601652) |
~100
8
|
3
|
| Sporadic |
|
|
myocilin (601652) |
6.4
1
|
3
|
Normal
tension (606657) |
|
|
|
|
|
GLC1E (602432) |
10p14 |
9
|
optineurin (602432) |
<1** |
10
|
|
|
|
myocilin (601652) |
1.2
1
|
11
|
|
|
|
OPA1 |
|
12
|
|
|
|
APOE |
|
13
|
|
|
|
|
|
|
Associated
with syndrome |
|
|
|
|
|
Nail
patella syndrome (161200) |
9q34 |
14
|
LMX1B
(602575) |
|
14
|
|
|
|
|
|
|
Secondary |
|
|
|
|
|
| Pigmentary (600510) |
7q35-36 |
15
|
|
|
|
| |
18q11-21 |
16
|
|
|
|
| |
|
|
myocilin (601652) |
1.5
1
|
1
|
| Exfoliative (177650) |
|
|
myocilin (601652) |
1.7
1
|
1
|
| |
|
|
|
| |