Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Increased frequency of Mediterranean fever gene variants in multiple myeloma.
[familial mediterranean fever]
High
frequencies
of
inherited
variants
in
the
Mediterranean
fever
(
MEFV
)
gene
have
been
identified
in
patients
with
multiple
myeloma
(
MM
)
.
The
sample
size
of
the
present
pilot
study
was
small
,
therefore
,
the
actual
frequency
of
inherited
variants
in
the
MEFV
gene
could
be
investigated
in
patients
with
MM
.
Twenty
-
eight
patients
with
MM
and
65
healthy
controls
were
included
in
the
study
.
Six
heterozygous
and
one
homozygous
(
E
148
Q
/
E
148
Q
)
variant
was
identified
in
patients
with
MM
.
None
of
the
patients
had
a
family
history
compatible
with
familial
Mediterranean
fever
.
In
the
healthy
control
group
,
11
heterozygous
variants
were
identified
.
The
difference
in
the
overall
frequency
of
the
inherited
variants
in
the
MEFV
gene
between
the
MM
patients
and
the
controls
was
statistically
significant
(
χ
(
2
)
=
4
.
905
;
P
=
0
.
027
)
.
In
conclusion
,
a
high
frequency
of
inherited
variants
in
the
MEFV
gene
was
identified
in
patients
with
MM
.
Based
on
the
current
data
,
it
is
hypothesized
that
the
MEFV
gene
is
a
cancer
susceptibility
gene
.
Additional
evidence
,
such
as
familial
aggregation
,
monozygotic
versus
dizygotic
twin
concordance
,
and
tumors
in
genetically
engineered
model
organisms
,
is
required
in
order
to
support
this
hypothesis
.
