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A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population.
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The
1858
C
/
T
SNP
of
the
PTPN
22
gene
has
been
associated
with
many
autoimmune
diseases
,
suggesting
the
existence
of
an
inflammatory
process
common
to
all
of
them
.
We
studied
the
association
of
that
polymorphism
with
immunoglobulin
A
deficiency
(
IgAD
)
following
a
double
approach
:
a
case-control
and
a
TDT
study
.
A
total
of
259
IgAD
patients
and
455
unrelated
matched
controls
,
and
128
families
were
used
for
each
approach
.
Comparisons
were
performed
using
Chi
-
Square
tests
or
Fisher
's
exact
test
when
necessary
.
No
association
between
the
PTPN
22
1858
C
/
T
SNP
and
IgA
deficiency
was
found
in
any
case
(
allelic
frequencies
8
%
vs
.
6
%
in
patients
and
controls
,
respectively
,
OR
=
1
.
14
(
0
.
72
-
1
.
79
)
,
p
=
0
.
56
;
TDT
p
=
0
.
08
)
.
The
result
obtained
seems
to
reinforce
the
consideration
of
IgA
deficiency
as
a
primary
immunodeficiency
rather
than
an
autoimmune
disease
.
