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Polymorphism of the flap endonuclease 1 gene in keratoconus and Fuchs endothelial corneal dystrophy.
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Oxidative
stress
is
implicated
in
the
pathogenesis
of
many
diseases
,
including
serious
ocular
diseases
,
keratoconus
(
KC
)
and
Fuchs
endothelial
corneal
dystrophy
(
FECD
)
.
Flap
endonuclease
1
(
FEN
1
)
plays
an
important
role
in
the
repair
of
oxidative
DNA
damage
in
the
base
excision
repair
pathway
.
We
determined
the
association
between
two
single
nucleotide
polymorphisms
(
SNPs
)
,
c
.
-
441
G
>
A
(
rs
174538
)
and
g
.
61564299
G
>
T
(
rs
4246215
)
,
in
the
FEN
1
gene
and
the
occurrence
of
KC
and
FECD
.
This
study
involved
279
patients
with
KC
,
225
patients
with
FECD
and
322
control
individuals
.
Polymerase
chain
reaction
(
PCR
)
and
length
polymorphism
restriction
fragment
analysis
(
RFLP
)
were
applied
.
The
T
/
T
genotype
of
the
g
.
61564299
G
>
T
polymorphism
was
associated
with
an
increased
occurrence
of
KC
and
FECD
.
There
was
no
association
between
the
c
.
-
441
G
>
A
polymorphism
and
either
disease
.
However
,
the
GG
haplotype
of
both
polymorphisms
was
observed
more
frequently
and
the
GT
haplotype
less
frequently
in
the
KC
group
than
the
control
.
The
AG
haplotype
was
associated
with
increased
FECD
occurrence
.
Our
findings
suggest
that
the
g
.
61564299
G
>
T
and
c
.
-
441
G
>
A
polymorphisms
in
the
FEN
1
gene
may
modulate
the
risk
of
keratoconus
and
Fuchs
endothelial
corneal
dystrophy
.
