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Epistatic effects occurring among susceptibility and protective MHC genes in IgA deficiency.
[]
Immunoglobulin
A
deficiency
(
IgAD
)
,
the
most
prevalent
primary
immunodeficiency
in
Caucasian
populations
,
shows
strong
evidence
of
polygenic
inheritance
with
several
associated
genes
being
located
in
the
major
histocompatibility
complex
(
MHC
)
.
Our
aims
were
to
determine
which
previously
described
MHC
associations
were
primary
and
not
secondary
to
a
decrease
or
an
increase
in
other
MHC
haplotype
frequencies
,
to
study
the
genetic
interactions
between
all
disease-associated
MHC
haplotypes
and
,
finally
,
to
ascertain
the
relative
importance
of
protection
vs
susceptibility
.
A
relative
predispositional
effect
(
RPE
)
study
showed
that
in
addition
to
the
primary
positive
association
of
IgAD
with
HLA-DRB
1
*
0102
,
DR
3
/
TNFa
2
b
3
,
and
DR
7
carrying
haplotypes
,
DRB
1
*
1501
was
a
marker
of
a
primary
protective
factor
in
the
Spanish
population
.
Our
data
also
indicate
that
the
combined
presence
in
an
individual
of
two
MHC
susceptibility
haplotypes
notably
increases
the
predisposition
to
the
disease
and
that
DRB
1
*
1501
positive
haplotypes
eliminate
the
susceptibility
conferred
by
any
other
MHC
haplotype
.
