Semiparametric inference on the penetrances of rare genetic mutations based on a case-family design

A formal semiparametric statistical inference framework is proposed for the evaluation of the age-dependent penetrance of a rare genetic mutation, using family data generated under a case-family design, where phenotype and genotype information are collected from first-degree relatives of case probands carrying the targeted mutation. The proposed approach allows for unobserved risk factors that are correlated among family members. Some rigorous large sample properties are established, which show that the proposed estimators were asymptotically semiparametric efficient. A simulation study is conducted to evaluate the performance of the new approach, which shows the robustness of the proposed semiparametric approach and its advantage over the corresponding parametric approach. As an illustration, the proposed approach is applied to estimating the age-dependent cancer risk among carriers of the MSH2 or MLH1 mutation.     

Testing the Cultural Theory of Risk in France

Cultural Theory, as developed by Mary Douglas, argues that differing risk perceptions can be explained by reference to four distinct cultural biases: hierarchy, egalitarianism, individualism, and fatalism. This paper presents empirical results from a quantitative survey based on a questionnaire devised by Karl Dake to measure these cultural biases. A large representative sample (N = 1022) was used to test this instrument in the French social context. Correlations between cultural biases and perceptions of 20 social and environmental risks were examined. These correlations were very weak, but were statistically significant: cultural biases explained 6%, at most, of the variance in risk perceptions. Standard sociodemographic variables were also weakly related to risk perceptions (especially gender, social class, and education), and cultural biases and sociodemographic variables were themselves inter correlated (especially with age, social class, and political outlook). The authors compare these results with surveys conducted in other countries using the same instrument and conclude that new methods, more qualitative and contextual, still need to be developed to investigate the cultural dimensions of risk perceptions. The paper also discusses relationships between perceptions of personal and residual risk, and between perceived risk and demand for additional safety measures. These three dimensions were generally closely related, but interesting differences were observed for some risk issues.