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Thread: Genetic isolates of Northeastern Italy redux

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    Genetic isolates of Northeastern Italy redux


    Paolo Anagostou
    "Inter-individual genomic heterogeneity within European population isolates"

    They examined a lot of genetic isolates, but centered in on three northern Italian ones.

    "8 A number of studies carried out since the early ‘70s has investigated the effects of isolation on genetic29 variation within and among human populations in diverse geographical contexts. However, no extensive30 analysis has been carried out on the heterogeneity among genomes within isolated populations. This issue31 is worth exploring since events of recent admixture and/or subdivision could potentially disrupt the32 genetic homogeneity which is to be expected when isolation is prolonged and constant over time. Here,33 we analyze literature data relative to 87,818 autosomal single-nucleotide polymorphisms, which were34 obtained from a total of 28 European populations. Our results challenge the traditional paradigm of35 population isolates as genetically (and genomically) uniform entities. In fact, focusing on the distribution36 of variance of intra-population diversity measures across individuals, we show that the inter-individual37 heterogeneity of isolated populations is at least comparable to the open ones. More in particular, three38 small and highly inbred isolates (Sappada, Sauris and Timau in Northeastern Italy) were found to be39 characterized by levels of this parameter largely exceeding that of all other populations, possibly due to40 relatively recent events of genetic introgression. Finally, we propose a way to monitor the effects of inter41 individual heterogeneity in disease-gene association studies."

    Maybe I'm having a bad day, but I don't get it totally. If these three "isolates" have relatively recent admixture with other "Italians" around them, then they're no longer really isolates, are they?
    Last edited by Angela; 27-03-19 at 15:29.

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    Again? This is not the first time that Anagnostou has done such a study.

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