Modelling the spread of cystic fibrosis in Brittany using genealogical data over five centuries.

Background: The French region of Brittany presents one of the highest cystic fibrosis (CF)-causing allele frequency in Europe. Here, we tested two hypotheses: i) CF-causing allele carriers arrived by sea in the middle of the 1st millennium AD, and ii) a selective advantage for healthy carriers explains this high rate.

Methods: From the census of cystic fibrosis patients, frequency maps of the most widespread alleles were established.

Lessons from the on-site quality audit of data transmitted to the French cystic fibrosis registry.

Background: The French Cystic Fibrosis Registry takes a census of the population of patients and records their annual data transmitted by Cystic Fibrosis Centers (CFCs). Quality of patient data has been a focus in the past years, with the implementation of automated controls before data integration. The objective was to assess, at the 14 CFCs trained in the quality improvement named Hospital Program to Improve Outcomes and Expertise in Cystic Fibrosis (PHARE-M), the quality of the 2012 and 2013 data transmitted to the French Registry with respect to the rules established to obtain forced expiratory volume in 1 second (FEV1%) and anthropometric data.

Fine-scale human genetic structure in Western France.

The difficulties arising from association analysis with rare variants underline the importance of suitable reference population cohorts, which integrate detailed spatial information. We analyzed a sample of 1684 individuals from Western France, who were genotyped at genome-wide level, from two cohorts D.E.