This prospective population cohort was described previously16: 6188 white individuals aged 35–75 years were randomly selected from the general population in Lausanne, Switzerland. These individuals underwent a detailed phenotypic assessment, and were genotyped using the Affymetrix Mapping 500K array; 5612 samples passed genotyping quality control. This study was approved by the institutional review boards of the University of Lausanne, and written consent was obtained from all participants. Because recruitment of this cohort required the ability to give informed consent, it is possible that the (statistically non-significant) lack of 16p11.2 deletions/duplications is due to an ascertainment bias. However, any such bias, if it exists, is very small and affects the identification of only 1-2 subjects carrying a deletion.
