Heritability of cardiovascular and personality traits in 6,148 Sardinians.

In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14-102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance in young and old, and in males and females. In summary, we find significant evidence for heritability of many medically important traits, including cardiovascular function and personality. Evidence for heterogeneity by age and sex suggests that models allowing for these differences will be important in mapping quantitative traits.

Personality traits in Sardinia: testing founder population effects on trait means and variances.

Potential founder population effects on personality trait means and variances were examined in a large, genetically homogeneous sample (N=5,669) from the Ogliastra, an isolated region within Sardinia, Italy. The Italian version of the Revised NEO Personality Inventory showed good psychometric properties: Internal consistency reliabilities ranged from 0.80 to 0.87; the factor structure replicated the American normative structure; and associations with education and gender replicated cross-cultural patterns. The hypothesis that mean trait levels in the Sardinian founder population would differ from mainland Italian values was not supported. Phenotypic variation in this founder population was within the range found in other cultures. However, the hypothesis of restricted phenotypic variation was supported for all five factors and 28 of the 30 facets when a Sardinian subsample matched on age, sex, and education was compared to a mainland Italian sample. The genetic homogeneity effect on the phenotypic expression of complex traits merits further exploration.

[Benefits and difficulties in implementing family psychoeducational interventions for schizophrenia in mental health services: results from a multicentre Italian study]. / Aspetti positivi e difficoltà nella diffusione degli interventi psicoeducativi familiari nella pratica clinica: uno studio multicentrico in 23 CSM italiani.

AIMS: This study aims to explore: a) the feasibility of psycho-educational interventions for families of users with schizophrenia in clinical practice by trained staff; b) the benefits and problems encountered by professionals in the use of these interventions. METHODS: 46 professionals from 23 Italian Mental Health Services (MHS) attended at a three-module training course in psycho-educational interventions and four supervisions in the subsequent year. Following the course, participants provided the intervention to families of users with schizophrenia. The difficulties and benefits encountered by trainees to use the intervention were registered on the Famnily Intervention Schedule. RESULTS: 83% of the participants completed the training course. Following the course, the intervention started in 71 families from 17 MHS. 76% of trainees provided the intervention to 2-5 families, while 13% of them only held informative sessions on schizophrenia. During the supervision period, the organisational difficulties experienced by the professionals were stable, while the benefits increased. Differences in benefits and difficulties were detected in relation to the trainees' experience and professional roles. CONCLUSIONS: It is possible to introduce psycho-educational interventions in MHS after a relatively brief period of training and supervision of the staff. Organisational difficulties need to be addressed to increase the dissemination of these interventions on a large scale.