Observations
Multiple sclerosis and Type I diabetes
[4], currently includes over 900 cases from the Lazio region,
and none of these patients has multiple sclerosis. We, there-
fore, analysed the HLA class II typing data for 450 of
these Type I diabetes patients, 315 patients with multiple scle-
rosis (unpublished data), and 719 control subjects, all residents
of continental Italy. As shown in Table 1, the Type I diabetes
susceptibility haplotypes DR3 and DR4 are not associated with
multiple sclerosis in our cohort. Susceptibility to the latter dis-
ease seems to depend more on having the DR15 haplotype,
which is, as reported [5], infrequent among Type I diabetic pa-
tients.
This finding can explain why the two diseases are not as-
sociated in continental Italy, which is highly similar to
Sardinia in terms of environment and lifestyle. The common
predisposition to both multiple sclerosis and Type I diabetes
suggested by the data of Marrosu et al. seems to have a pri-
marily genetic basis that could be unique to the Sardinian
population.
R. Buzzetti, P. Pozzilli, U. Di Mario, C. Ballerini,
L. Massacesi
Diabetologia (2002) 45:1735–1736
DOI 10.1007/s00125-002-0967-6
Received: 19 August 2002
Published online: 16 November 2002
© Springer-Verlag 2002
To the Editor: Multiple sclerosis (MS) and Type I diabetes
mellitus are both believed to result from interaction between
genetic and environmental factors. The incidence of these dis-
eases varies from country to country, and marked differences
can also be observed between ethnically distinct groups within
a country.
For instance, the incidence of Type I diabetes on the island
of Sardinia is four to five times higher than that of continental
Italy [1], and similar figures have been reported for multiple
sclerosis. Sardinia and continental Central Italy are 200 km
apart with residing populations exposed to similar environmen-
tal factors. This suggests that the differences in the incidence
of Type I diabetes and multiple sclerosis are primarily a result
of genetic rather than environmental factors. This conclusion is
supported (at least for T1DM) by the observation that, among
the children of Sardinian parents who have migrated into the
Lazio region of continental Italy, the high incidence of this dis-
ease that characterizes their ancestral population has been re-
tained [2].
Marrosu et al. [3] have reported an increased pre-
valence of Type I diabetes in a cohort of Sardinians with multi-
ple sclerosis. They suggested that susceptibility to both of
these autoimmune diseases might be conferred by the same
HLA haplotype. As they noted, previous studies have shown
that multiple sclerosis in Sardinia is most strongly associated
with two HLA DR-DQ haplotypes, DRB1*0301-DQA1*0501-
DQB1*0201 and DRB1*0405-DQA1*0501-DQB1*0301, the
first of which is known to bestow high susceptibility to Type I
diabetes. In contrast, in northern European populations, multi-
ple sclerosis shows a stronger relation with the DR15 haplo-
type, which confers dominant protection against Type I diabe-
tes.
In the Lazio region of Italy, there is no multiple sclerosis
patient registry and no published data on multiple sclerosis pa-
tients of Sardinian origin in this area. However, the Eurodiab
Registry for Type I diabetes, which was established in 1989
Table 1. Phenotypic distribution of HLA DRB1 in Continental
Italians with Type I diabetes or multiple sclerosis and control
subjects
HLA Type I diabetes Multiple Control
mellitus sclerosis subjects
n=490 (%) n=315 (%) n=718 (%)
DR3 277 (57)
a
62 (20) 126 (18)
DR4 269 (55)
b
59 (19) 113 (16)
DR15 17 (3.5)
a
98 (31)
d
83 (12)
a
χ
2
test Type I diabetes vs control subjects, p<10–4, OR 6.1
(CI 5–8)
b
χ
2
test Type I diabetes vs control subjects, p<10–4, OR 6.5
(CI 5–8.5)
c
χ
2
test Type I diabetes vs controls subjects, p<10–4, OR 0.3
(CI 0.16–0.5)
d
χ
2
test multiple sclerosis vs control subjects, p<10–4, OR 3.5
(CI 2.5–5)