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MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.
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The
etiology
of
selective
IgA
deficiency
(
IgAD
)
is
clearly
influenced
by
human
leukocyte
antigen
(
HLA
)
genetic
composition
,
although
the
susceptibility
observed
has
not
been
ascribed
to
any
specific
gene
/
s
.
A
possible
role
of
the
MSH
5
gene
,
mapping
on
this
chromosomal
region
,
has
been
proposed
based
on
its
function
and
on
the
association
of
some
MSH
5
polymorphisms
(
L
85
F
/
P
786
S
and
rs
3131378
)
with
the
disease
.
However
,
the
extensive
linkage
disequilibrium
in
the
HLA
region
makes
mandatory
additional
analyses
.
We
aimed
at
evaluating
the
role
of
those
MSH
5
polymorphisms
on
IgAD
susceptibility
considering
their
linkage
with
other
classically
associated
HLA
markers
,
specifically
DRB
1
*
0102
and
B
*
08
-
DRB
1
*
03
.
We
studied
146
trios
composed
by
IgAD
patient
and
parents
to
unambiguously
establish
the
gametic
phase
.
Association
of
those
MSH
5
variants
with
IgAD
is
observed
but
stratified
analyses
considering
other
HLA
alleles
rule
out
the
role
of
MSH
5
per
se
as
a
predisposing
factor
.
However
,
the
minor
allele
of
one
of
the
studied
polymorphisms
,
85
F
,
defines
the
subgroup
of
DRB
1
*
0102
haplotypes
carrying
susceptibility
.
The
causal
factor
present
on
this
haplotype
(
MSH
5
85
F-DRB
1
*
0102
)
seems
to
be
at
the
telomeric
end
of
HLA
class
II
or
in
Class
I
or
III
,
as
the
allele
composition
in
more
centromeric
markers
is
shared
by
all
the
haplotypes
containing
DRB
1
*
0102
.
