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Cathepsin C gene variants in aggressive periodontitis.
[papillon-lefèvre syndrome]
Cathepsin
C
(
CTSC
)
mutations
are
known
to
cause
Papillon-
Lefèvre
syndrome
.
The
aim
of
this
study
was
to
examine
the
association
of
CTSC
genotype
with
susceptibility
to
non-syndromic
aggressive
periodontitis
.
The
CTSC
gene
was
analyzed
in
110
persons
with
generalized
aggressive
periodontitis
in
comparison
with
78
control
individuals
,
after
identifying
different
variants
in
a
cohort
of
100
persons
.
Five
out
of
19
discovered
variants
were
included
in
this
association
study
,
representing
5
single
-nucleotide
polymorphism
groups
in
tight
linkage
disequilibrium
.
The
relevance
of
genotypes
on
enzyme
function
was
examined
.
The
carrier
frequency
of
the
missense
variant
p
.
I
453
V
was
significantly
increased
in
persons
with
disease
compared
with
healthy
control
individuals
(
17
.
3
%
vs
.
6
.
4
%
,
p
<
0
.
05
)
.
CTSC
activity
in
leukocytes
from
individuals
harboring
this
variant
was
significantly
reduced
(
119
.
8
Delta
OD
/
min
*
10
(
5
)
cells
,
95
%
confidence
interval
17
.
4
-
174
.
9
,
p
=
0
.
018
)
.
No
influence
of
promoter
variants
was
found
on
mRNA
expression
.
The
results
support
the
hypothesis
that
CTSC
gene
variants
contribute
to
increased
susceptibility
in
generalized
aggressive
periodontitis
.
Diseases
Validation
Diseases presenting
"increased susceptibility in generalized aggressive periodontitis"
symptom
papillon-lefèvre syndrome
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