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Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.
[oligodontia]
Tooth
agenesis
is
one
of
the
most
common
dental
anomalies
,
with
a
complex
and
not
yet
fully
elucidated
aetiology
.
Given
the
crucial
role
of
the
Wnt
signalling
pathway
during
tooth
development
,
the
purpose
of
this
study
was
to
determine
whether
nucleotide
variants
of
genes
encoding
components
of
this
signalling
pathway
might
be
associated
with
hypodontia
and
oligodontia
in
the
Polish
population
.
A
set
of
34
single
nucleotide
polymorphism
(
SNPs
)
in
13
WNT
and
WNT-related
genes
were
analyzed
in
a
group
of
157
patients
with
tooth
agenesis
and
a
properly
matched
control
group
(
n
 
=
 
430
)
.
In
addition
,
direct
sequencing
was
performed
to
detect
mutations
in
the
MSX
1
,
PAX
9
and
WNT
10
A
genes
.
Both
single
-marker
and
haplotype
analyses
showed
highly
significant
association
between
SNPs
in
the
WNT
10
A
gene
and
the
risk
for
tooth
agenesis
.
Moreover
,
nine
pathogenic
mutations
within
the
coding
region
of
the
WNT
10
A
gene
were
identified
in
26
out
of
42
(
62
%
)
tested
patients
.
One
novel
heterozygous
mutation
was
identified
in
the
PAX
9
gene
.
Borderline
association
with
the
risk
of
non-syndromic
tooth
agenesis
was
also
observed
for
the
APC
,
CTNNB
1
,
DVL
2
and
WNT
11
polymorphisms
.
In
conclusion
,
nucleotide
variants
of
genes
encoding
important
components
of
the
Wnt
signalling
pathway
might
influence
the
risk
of
tooth
agenesis
.
Diseases
Validation
Diseases presenting
"hypodontia"
symptom
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
kabuki syndrome
oligodontia
This symptom has already been validated
