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PAX9 polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study.
[]
Hypodontia
,
the
congenital
absence
of
one
or
a
few
teeth
is
one
of
the
most
common
alterations
of
the
human
dentition
.
Familial
hypodontia
is
caused
by
mutations
in
PAX
9
,
Msx
1
and
Axin
2
genes
.
Limited
numbers
of
studies
are
present
to
show
etiological
factors
beyond
this
anomaly
in
Turkish
community
belonging
to
Caucasian
racial
family
.
The
purpose
of
this
study
is
to
investigate
the
relationships
between
the
two
different
single
nucleotide
polymorphisms
that
are
G-
1031
A
and
T
-
912
C
with
hypodontia
in
Caucasians
.
200
individuals
having
hypodontia
and
114
normal
individuals
having
all
32
teeth
present
were
selected
for
the
study
.
Blood
samples
were
collected
from
each
individual
and
DNA
was
extracted
.
To
determine
the
polymorphisms
,
PCR-RFLP
method
was
used
.
The
outcomes
suggest
that
the
individuals
having
AC
haplotype
carry
less
risk
in
having
hypodontia
compared
with
the
rest
of
the
haplotype
groups
(
OR
=
3
.
88
;
CI
=
95
%
;
p
=
0
.
001
)
.
The
ratio
of
GT
haplotype
is
less
in
the
hypodontia
group
meaning
that
the
GT
carriers
are
in
risk
group
in
terms
of
hypodontia
risk
.
These
results
indicate
that
polymorphisms
in
the
promoter
region
of
PAX
9
gene
may
have
an
influence
on
the
transcriptional
factors
and
activity
of
this
gene
and
are
associated
with
hypodontia
in
Caucasian
individuals
.
