Abstract
The presence of autoantibodies usually precedes autoimmune disease, but is sometimes considered an incidental finding with no clinical relevance. The prevalence of immune-mediated diseases was studied in a group of individuals from the Estonian Genome Project (n = 51,862), and 6 clinically significant autoantibodies were detected in a subgroup of 994 (auto)immune-mediated disease-free individuals. The overall prevalence of individuals with immune-mediated diseases in the primary cohort was 30.1%. Similarly, 23.6% of the participants in the disease-free subgroup were seropositive for at least one autoantibody. Several phenotypic parameters were associated with autoantibodies. The results suggest that (i) immune-mediated diseases are diagnosed in nearly one-third of a random European population, (ii) 6 common autoantibodies are detectable in almost one-third of individuals without diagnosed autoimmune diseases, (iii) tissue non-specific autoantibodies, especially at high levels, may reflect preclinical disease in symptom-free individuals, and (iv) the incidental positivity of anti-TPO in men with positive familial anamnesis of maternal autoimmune disease deserves further medical attention. These results encourage physicians to evaluate autoantibodies in addition to treating a variety of patient health complaints to detect autoimmune-mediated disease early.
Highlights
TTG belongs to a family of multifunctional transglutaminases, in coeliac disease, the anti-tTG IgAs produced in the small-intestinal mucosa interrupt the conversion of a glutamine residue into glutamic acid during gluten digestion[5]
According to data registered by EGCUT by May 2014, approximately 30% of the adult population in Estonia has been diagnosed with some type ofimmune-mediated disease (Supplementary Table S.1)
The analyses revealed that the presence of anti-TPO autoantibodies in men was independently associated with (i) the presence of maternal autoimmune disease, (ii) older age, and (iii) tended to be associated with occupational status of being student or serviceman
Summary
IgA-type autoantibodies against the 78 kDa tissue transglutaminase (anti-tTG) are highly specific to coeliac disease[4], making them clinically significant but not tissue specific. The prevalence and relevance of autoantibodies in healthy individuals are poorly studied, and most data found in the literature are derived from assessing autoantibodies in patients with autoimmune diseases[1,4]. Two outstanding questions that remain unanswered are how often autoantibodies can be detected in clinically healthy individuals and whether the presence of autoantibodies predicts the future onset of autoimmune disease. We aimed to determine the prevalence of selected clinically significant autoantibodies in (auto) immune-mediated disease-free individuals and to carry out an association study to explain the existence of autoantibodies in these healthy individuals. Study individuals were tested for anti-TPO IgG and 5 tissue non-specific autoantibodies diagnostic of major (auto)immune-mediated diseases. The presence of autoantibodies was assessed in relation to phenotypic characteristics in disease-free individuals
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