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This report describes the general outline and progress of a multicentre study on risk factors of coronary heart disease and their determinants in children and adolescents. "Cardiovascular Risk in Young Finns" comprises a cross-sectional study of 3 to 18-year old subjects in 1980, and follow-up studies in 1983 and 1986 in various parts of Finland, and in 1989 in one of the study areas (Turku). The number of participants in 1980 was 3596 (83.1%) of those invited. In 1983 and 1986 83.2% and 77.8% of them, respectively, participated. The study programme has comprised questionnaire data on, for example, general health and living conditions, physical activity, eating habits, smoking, and psychological variables. The physical examination covered height, weight, skinfold thickness, pubertal stages and blood pressure. Blood specimens were obtained to assess concentrations of serum lipids and insulin, and in 1986 also for possible genetic markers of hypercholesterolemia. A 48 hour recall on nutrient intake was obtained from some of the subjects. The follow-up studies have enabled a study of the tracking phenomenon. Other important questions under study include, for example, the possible clustering of risk factors and their determinants. The cohorts studied provide a valuable research basis for the future, with emphasis on enabling a long-term follow-up of the subjects.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM *240300, also called APS 1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations. It is generally characterized by two of the three major clinical symptoms that may be present, Addison's disease and/or hypoparathyroidism and/or chronic mucocutaneous candidiasis. Patients may also have a number of other clinical symptoms including chronic gastritis, gonadal failure, and rarely, autoimmune thyroid disease and insulin-dependent diabetes mellitus. We and others have recently identified the gene for APECED, which we termed AIRE (for autoimmune regulator). AIRE is expressed in thymus, lymph nodes, and fetal liver and encodes a protein containing motifs suggestive of a transcriptional regulator, including two zinc finger motifs (PHD finger), a proline-rich region, and three LXXLL motifs. Six mutations, in cluding R257X, the predominant Finnish APECED allele, have been defined. R257X was also observed in non-Finnish APECED patients occurring on different chromosomal haplotypes suggesting different mutational origins. Here we present mutation analyses in an extended series of patients, mainly of Northern Italian origin. We have detected 12 polymorphisms, including one amino acid substitution, and two additional mutations, R203X and X546C, in addition to the previously described mutations, R257X, 1096-1097insCCTG, and a 13-bp deletion (1094-1106del). R257X was also the common mutation in the Northern Italian patients (10 of 18 alleles), and 1094-1106del accounted for 5 of 18 Northern Italian alleles. Both R257X and 1094-1106del were both observed in patients of four different geo-ethnic origins, and both were associated with multiple different haplotypes using closely flanking polymorphic markers showing likely multiple mutation events (six and four, respectively). The identification of common AIRE mutations in different APECED patient groups will facilitate its genetic diagnosis. In addition, the polymorphisms presented provide the tools for investigation of the involvement of AIRE in other autoimmune diseases, particularly those affecting the endocrine system.

In conclusion, type 1 diabetes is associated with reduced BMC and appears to affect bone cross-sectional size and cortical rigidity. The diabetes-related skeletal deficits seemed to concern male adolescents more than females. Whether diabetes-related deficits would contribute to an increased risk of fractures in adulthood or later in life remains to be confirmed.

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