Cilento Isolate Population: Genetic Insights

The Cilento isolate comprise three villages from the South of Italy; Campora, Cardile, and Gioi. Pedigree, phenotypic, and genetic data have previously been gathered as part of the Cilento Study. A pedigree structures which connects all three village has been reconstructed from parish records. The three villages have been shown to represent characteristics of population isolates intermediate between the large isolate population of Iceland^{62 (link)} and the highly isolated Hutterite population^{63 (link),64 (link)}. Aggregating over the three villages, we have a pedigree of 7,585 members including 1,444 genotyped members. The high quality of the reconstructed genealogy in Cilento makes it an appropriate tool for simulating a realistic example of data from an isolated population. Individuals from Campora and Cardile have been genotyped on an Illumina 370 K array, whilst individuals from Gioi have been genotyped on an Illumina HumanOmniExpress array. Deep phenotyping has been performed in Cilento for a range of anthropometric, cardiometabolic, and haematological traits. For the purposes of this study, we have concentrated on phenotypes that have been often analyzed in the literature of both other population isolates and in samples of unrelated individuals (Supplementary Table 1).