D. Larizza et al., Parental segregation of autoimmunity in patients with Turner's syndrome: Preferential paternal transmission, J AUTOIMMUN, 12(1), 1999, pp. 65-72
The prevalence of autoantibodies has been reported to be increased in both
patients with Turner's syndrome and their parents. We evaluated organ-speci
fic and non-organ-specific autoantibodies in 95 patients, ranging in age fr
om infancy to adulthood, and in most of their parents, in order to determin
e the characteristics of autoimmune disorders in these families and to rela
te it to the genetic markers usually involved in autoimmunity (HLA, GM and
KM genes). A statistically significant difference was observed between Turn
er patients and controls in the frequencies of organ-specific autoantibodie
s, in particular thyroid microsomal antibodies and thyroglobulin antibodies
; however, the presence of autoantibodies was not associated with overt dis
eases in most cases. No significant difference was found between parents an
d controls. A study of the inheritance of the autoimmunity showed that tran
smission was preferentially paternal, since Turner patients had more chance
of presenting autoantibodies when their fathers had autoantibodies rather
than their mothers. A positive association was found between the presence o
f autoantibodies and HLA-DR7;DQ2 and HLA-DR7;DQ9 haplotypes in Turner patie
nts and fathers. No significant association was found between GM and KM all
otype frequencies in Turner patients and their parents and the presence of
autoantibodies. No epistatic interaction was demonstrated between HLA and G
M or KM genes. Familial segregation was studied and a preferentially patern
al transmission of HLA-DR7-carrying haplotypes and possibly also of the KM
(1) allotype with autoimmunity was observed. (C) 1999 Academic Press.