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Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: A case-control study.
[familial mediterranean fever]
Ankylosing
spondylitis
(
AS
)
and
familial
Mediterranean
fever
(
FMF
)
are
a
common
autoimmune
disease
and
a
classic
autoinflammatory
disease
,
respectively
.
Mediterranean
fever
(
MEFV
)
encodes
the
pyrin
protein
and
is
the
causal
disease
gene
in
FMF
.
This
protein
is
an
important
regulator
of
innate
immunity
and
may
play
a
key
role
in
the
development
of
AS
.
To
identify
the
mutations
in
the
B
30
.
2
domain
of
pyrin
and
to
uncover
the
relationships
between
these
mutations
and
AS
risk
in
the
Chinese
Han
population
,
we
extracted
genomic
DNA
from
the
peripheral
blood
of
200
AS
patients
and
200
matched
controls
and
performed
polymerase
chain
reactions
(
PCRs
)
and
direct
sequencing
on
those
samples
.
Statistical
analysis
indicated
that
only
Met
694
V
al
(
rs
61752717
)
in
the
B
30
.
2
domain
of
pyrin
could
affect
the
risk
of
AS
(
P
=
0
.
042
;
odds
ratio
[
OR
]
=
5
.
103
;
95
%
confidence
interval
[
CI
]
=
1
.
111
-
23
.
437
for
the
model
of
Met
(
M
)
vs
.
Val
(
V
)
,
P
=
0
.
040
;
OR
=
5
.
211
;
95
%
CI
=
1
.
127
-
24
.
091
for
the
model
of
MM
vs
.
MV
+
VV
)
.
Moreover
,
M
694
V
is
significantly
associated
with
a
higher
level
of
erythrocyte
sedimentation
rate
(
ESR
)
and
C-
reactive
protein
(
CRP
)
in
AS
patients
.
Our
results
are
the
first
to
suggest
that
the
M
694
V
allele
of
the
pyrin
was
associated
with
AS
risk
in
the
Chinese
Han
population
and
that
this
mutation
may
be
associated
with
the
inflammatory
response
in
the
development
of
AS
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated
