Parental segregation of autoimmunity in patients with Turner's syndrome: Preferential paternal transmission

Citation
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
Citations number
40
Categorie Soggetti
Immunology
Journal title
JOURNAL OF AUTOIMMUNITY
ISSN journal
08968411 → ACNP
Volume
12
Issue
1
Year of publication
1999
Pages
65 - 72
Database
ISI
SICI code
0896-8411(199902)12:1<65:PSOAIP>2.0.ZU;2-T
Abstract
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.