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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
.
