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Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
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To
understand
the
genetic
predisposition
to
selective
immunoglobulin
A
deficiency
(
IgAD
)
,
we
performed
a
genome-
wide
association
study
in
430
affected
individuals
(
cases
)
from
Sweden
and
Iceland
and
1
,
090
ethnically
matched
controls
,
and
we
performed
replication
studies
in
two
independent
European
cohorts
.
In
addition
to
the
known
association
of
HLA
with
IgAD
,
we
identified
association
with
a
nonsynonymous
variant
in
IFIH
1
(
rs
1990760
G
>
A
,
P
=
7
.
3
x
10
(
-
10
)
)
which
was
previously
associated
with
type
1
diabetes
and
systemic
lupus
erythematosus
.
Variants
in
CLEC
16
A
,
another
known
autoimmunity
locus
,
showed
suggestive
evidence
for
association
(
rs
6498142
C
>
G
,
P
=
1
.
8
x
10
(
-
7
)
)
,
and
29
additional
loci
were
identified
with
P
<
5
x
10
(
-
5
)
.
A
survey
in
IgAD
of
118
validated
non-
HLA
autoimmunity
loci
indicated
a
significant
enrichment
for
association
with
autoimmunity
loci
as
compared
to
non-
autoimmunity
loci
(
P
=
9
.
0
x
10
(
-
4
)
)
or
random
SNPs
across
the
genome
(
P
<
0
.
0001
)
.
These
findings
support
the
hypothesis
that
autoimmune
mechanisms
may
contribute
to
the
pathogenesis
of
IgAD
.
