Genetic characterization of Northeast Italian population isolates in the context of broader Europe

[curupira]

A very interesting study IMO. Would one expect people from Resia (RE) to plot near French Basques or even further away from other Europeans than French Basques?

Population genetic studies on European populations have highlighted Italy as one of genetically most diverse regions. This is
possibly due to the country’s complex demographic history and large variability in terrain throughout the territory. This is the
reason why Italy is enriched for population isolates, Sardinia being the best-known example. As the population isolates have a
great potential in disease-causing genetic variants identification, we aimed to genetically characterize a region from
northeastern Italy, which is known for isolated communities. Total of 1310 samples, collected from six geographically isolated
villages, were genotyped at 4145 000 single-nucleotide polymorphism positions. Newly genotyped data were analyzed jointly
with the available genome-wide data sets of individuals of European descent, including several population isolates. Despite the
linguistic differences and geographical isolation the village populations still show the greatest genetic similarity to other Italian
samples. The genetic isolation and small effective population size of the village populations is manifested by higher levels of
genomic homozygosity and elevated linkage disequilibrium. These estimates become even more striking when the detected
substructure is taken into account. The observed level of genetic isolation in Friuli-Venezia Giulia region is more extreme
according to several measures of isolation compared with Sardinians, French Basques and northern Finns, thus proving the
status of an isolate.

http://www.ncbi.nlm.nih.gov/pubmed/23249956

[Ulla]

L'ennesima scoperta dell'acqua calda. Questa ricerca dimostra solo l'estrema complessità della storia genetica dell'Italia.

[Volscian]

I think that if we study the isolated populations of other countries, we will find the same diversity.

[Ulla]

I think that if we study the isolated populations of other countries, we will find the same diversity.

Senz'altro. Tutti i Paesi friulani presi in considerazione mostrano persino una grande diversità tra di loro.

[curupira]

It is almost unbelievable there would be so much variation in such a small place. But it seems it does.

[safinator]

Resia placement is very curious to say the least, not the overall northern clustering but the very west shifting position compared to being in extreme NE Italy.