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Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C3435T) and their genotype/haplotype combinations with the familial Mediterranean fever.
[familial mediterranean fever]
1
.
Familial
Mediterranean
fever
(
FMF
)
is
considered
an
autosomal
recessive
disorder
,
associated
with
a
single
gene
named
Mediterranean
fever
(
MEFV
)
.
The
aim
of
this
study
was
to
perform
genotyping
and
haplotyping
analysis
of
the
multidrug
resistance
(
ATP-binding
cassette
,
subfamily
B
,
member
1
-
ABCB
1
)
gene
in
FMF
patients
.
2
.
Three
ABCB
1
gene
polymorphisms
(
C
1236
T
,
G
2677
T
/
A
and
C
3
435
T
)
were
analyzed
in
309
FMF
patients
and
250
healthy
control
subjects
.
All
subjects
were
genotyped
by
PCR-restriction
fragment
length
polymorphism
analysis
,
and
statistical
analysis
was
performed
using
the
Arlequin
3
.
1
.
1
and
SPSS
16
.
0
software
packages
.
3
.
The
CT
genotype
frequency
of
the
C
3
435
T
polymorphism
(
p
=
0
.
003
)
,
the
CT
-GT-
CT
(
C
1236
T
-G
2677
T
/
A-
C
3
435
T
)
triple
genotype
(
p
=
0
.
001
)
and
the
C-G
(
C
1236
T
-G
2677
T
/
A
)
haplotype
(
p
=
0
.
030
)
were
more
common
in
the
FMF
patients
.
The
CT
-GG-CC
triple
genotype
and
T
-G-C
,
C-
T
-
T
and
T
-G-
T
haplotypes
(
C
1236
T
-G
2677
T
/
A-
C
3
435
T
)
were
higher
in
the
control
subjects
(
p
=
0
.
011
,
0
.
001
,
0
.
009
and
0
.
000
,
respectively
)
.
The
CT
-GG
binary
genotype
and
C-
T
and
T
-G
haplotypes
for
C
1236
T
-G
2677
T
/
A
polymorphisms
may
have
a
high
degree
of
protective
effect
against
FMF
(
p
=
0
.
0005
,
0
.
002
and
0
.
000
,
respectively
)
.
4
.
Our
study
showed
that
genotypes
and
haplotypes
of
ABCB
1
gene
polymorphisms
may
affect
patients
'
FMF
susceptibility
.
Diseases
Validation
Diseases presenting
"a single gene named mediterranean fever"
symptom
familial mediterranean fever
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