More Italian Population Structure

August 10, 2016

This new study is a follow-up to Di Gaetano et al. (2012) by the same team. It increases the number of SNPs, improves the sample selection criteria, and incorporates some newer methods, but it has a lot of the same problems. The main findings are that genetic variation in Italy is clinal going from the Western to the Eastern Mediterranean (with Sardinians as outliers) and that all Italians are made up of the same ancestral components, in different proportions, related to Paleolithic, Neolithic and Bronze Age settlements of Europe (with minor recent Lombard/Norman and Moorish admixture).

We hypothesize two simple historical scenarios leading to the observed genetic variability across Italy: (a) continuous ancient gene flow amplified by isolation-by-distance in recent times; (b) different ancestral origins of the main Italian macroareas whose distinguishability has been attenuated by genetic exchange in recent times.

Monmonier's algorithm revealed no evidence of the presence of genetic barriers across the peninsula. Instead, results from the Mantel test provide evidence of a correlation between genetics and geographical distance. The observed higher average length of the segments with shared IBD within regions compared with those shared between regions (Supplementary Table S2B) suggests recent isolation-by-distance across the wide range of latitude of the Italian peninsula. Moreover, a North to South gradient of increasing ancestral Ne was inferred for the three main macroareas (Northern, Central and Southern), coinciding with increased heterozygosity in Southern Italy. A similar trend was previously described for the rate of inbreeding and genome-wide similarity across Central Europe, and could be interpreted as a signature of the 'Out of Africa' migration during Palaeolithic expansions from refugia after the ice age and of ancient South-to-North migratory waves that occurred at the times of European colonization by Neolithic farmers. The ancestry and IBD analyses provided evidence of admixture in Italy with three major ancestries detected, most represented in Northern Europeans, Southern Europeans and Middle Eastern, respectively (with a small percentage of a North African component found in South Italy and Sardinia), with different prevalence across the peninsula. None of these components is fixed in any population, meaning that there is a poor fit with a strict admixture model, as assumed by the algorithm used, and supporting a process of continuous gene flow in multiple directions (migratory waves to and from Italy). According to previous studies on the Y chromosome and mtDNA, the Middle Eastern ancestry in Southern Italians most likely originated at the time of the Greek colonization and, with a smaller percentage, of the subsequent Arabic domination, whereas in Central-Northern Italy it is possibly because of the admixture of the indigenous residents with Middle Eastern populations spreading from the Caucasus to Central Europe. Our results agree with previously published reports describing a possible maritime route of colonization across Europe, including Italy, although we cannot exclude the occurrence of more recent demographic events leading to a similar scenario. Finally, the homogenous ancestral effective population size across Italian regions could be interpreted as reflecting common genetic origins, taking also into account previous considerations, although the same results might also occur in comparing populations without common origins.

Our study supports the notion that genetic variability across Italy is likely to represent continuous gene flow leading to differences in the proportion of ancestry from different sources, along with genetic exchange among neighbouring populations (eg, Northern Italian with European countries, Southern Italian with Middle Eastern and North African ones). Previous studies, analysing uniparental markers, found Y-chromosome genetic discontinuity across Italy. This contrasts with a general lack of structure for mitochondrial DNA, and with a higher homogeneity for maternal than paternal genetic contributions, suggesting different demographic and historical dynamics for females and males in Italy.

One issue is that the samples are still unevenly distributed, with a big gap between North-Center and South — which is reflected in the PCAs — and almost nothing from the eastern part of the country. (Note: the genetic gap between Aosta Valley and its very close neighbor regions is due to some of it being ethnically French).


Principal component analysis based on the coancestry matrix including Sardinians (b) and excluding Sardinians (c); x and y axes were inverted to emphasize similarity to the geographical map of Italy.

This time they do include a few Iberians for comparison, and that's who Northern Italians cluster with. But besides a few Cypriots, there are still no Greeks, which Paschou et al. (2014) and many other studies show Southern Italians clustering with. Sardinians, as always, are the closest to Ötzi the Iceman.


Fiorito et al. "The Italian genome reflects the history of Europe and the Mediterranean basin". Eur J Hum Genet, 2016.

Related: Much Better Population Structure

23 comments

king_cookie said...

do you mean they sampled french people instead of real Aostans to get those values from Vda?

Italianthro said...

"The Aosta Valley is a small region at the North-Western Italian border with France and Switzerland. Its inhabitants showed interesting genetic characteristics. In the PCA (Figures 2b and c and Supplementary Figure S5), Aostans do not cluster with subjects from the other Northern Italian regions, not even after the inclusion of non-Italian populations in the analysis. Moreover, IBD analysis revealed a high level of inbreeding, comparable to the rate observed in Sardinia. However, the estimated proportions of ancestry are comparable to those in Piedmont, Liguria, Lombardy and Emilia Romagna. Hence, our results suggest that the observed differences are not because of the effect of long genetic isolation, as is the case for Sardinians, but are the results of recent isolation of the Valley. These results are consistent with the low number of different surnames, mostly of French origin, compared with the number of families, as expected in genetic isolates."

diciamolochiaro said...

I am not convinced of those schemas. The analysis must be correct, but the samples taken must not.
Those "iberians" in between aostans and northern italians are absolutely an absurd. They had 800 years of muslim domination, greek and phoenician colonies, romans during 900 years, iberians who should not be europeans etc. so that they should be more similar to sicilians than to northern italians.
Are you sure that the iberian samples were not taken to english or french tourists on the beach? .......

Italianthro said...

Don't talk nonsense. There's nothing wrong with the samples. Genetic distance is a product of geographic distance, and Iberia is farther west than Italy (even Northern Italy). Admixture in historical times was very low and is irrelevant. Differences go back to the Bronze Age and Neolithic.

Read these posts for more info:
https://italianthro.blogspot.com/search/label/Genetics

king_cookie said...

looks like extreme endogamy is the reason why the sample from Aosta doesn't cluster with other Northerners. they're not french in origin, their last names were traditionally french because french was the official language (along with italian) there until 1861.

Italianthro said...

Riiiiiight, just like people from Trentino with German surnames aren't really German in origin, and people from Friuli with Slavic surnames aren't really Slavic in origin. You're an idiot.

Unknown said...

looks like the gothic line is a divide between North and Tuscany. Emilia-Romagna is closer genetically to Piedmont and Liguria despite being geographically closer to Tuscany. Bologna is 100 km distant from Florence and 150 km distant from Arezzo while being 200 km from Genoa and 300 km from Turin. the gothic line is not just a language divide but also a genetic one.

Blogger said...

You're an idiot, Italianthro. The people of Trentino are not Germans and do not have German surnames. And the people of Aosta never came from France, nor are their surname French; they have dialectal surnames deriving from patois which have not been tuscanized. If you saw what the non-standardized Italian surnames of many Venetians and Friulians look like (Ballarin, Marangon, Zanon, Bressan, Visentin, Furlan, Tomat), your ignorant mind would probably think they were French too.

Italianthro said...

Moron, Sud Tyrol is part of Trentino-Alto Adige and it has an ethnic German majority. You think Reinhold Messner is ethnically Italian? And Valle D'Aosta has ethnic French people, as the study in this post says. Their surnames have nothing to do with surnames from Veneto that drop the end vowel. Those are Italian.

Blogger said...

You did not say South Tyrol, you said Trentino: "just like people from Trentino with German surnames".

Trentino and South Tyrol are not the same thing, you ignorant American. Stop pretending to teach me about my country.

Trentino = Province of Trento
South Tyrol = Province of Bolzano

Furthermore, most of the population in South Tyrol is not even of Germanic origin and does not cluster with Germanic populations. Most of the population are Ladins who were forced to speak German a few centuries ago. Or do you think Oswald Sattler is an ethnic German?

Aosta DOES NOT have ethnic French people. Please tell me when the French colonized the Aosta Valley? That's right; never. The Aostan population has been living there long before France existed, and was never settled by French. The only people who settled here in the Middle Ages were Walsers, who are a Germanic people (who still live in their own villages), and they sure did not come from France.

Italianthro said...

>>> Trentino and South Tyrol are not the same thing, you ignorant American.

Trentino is shorthand for the region of Trentino-Alto Adige, you nitpicking Italian.

>>> Most of the population are Ladins who were forced to speak German a few centuries ago. Or do you think Oswald Sattler is an ethnic German?

You keep making unsupported claims. I don't know what Oswald Sattler's exact full genetic ancestry is, but his name is clearly German. And Wikipedia says Ladins are only 4.53% of the population of Sud Tyrol.

>>> Aosta DOES NOT have ethnic French people.

Yes it DOES, idiot. It's been proven based on language, surnames and genetics. Don't repeat that false claim again.

Blogger said...

Trentino is shorthand for the region of Trentino-Alto Adige, you nitpicking Italian.

It's not shorthand at all. Trentino and Alto Adige are two different places, with two very different ethno-cultural realities, and if you're going to be discussing these matters then you ought to know better.


You keep making unsupported claims.

You simply don't know what you're talking about. The Venosta Valley, which covers the entire western section of South Tyrol, was populated by Ladin-speakers up until the 19th century. Many other valleys and towns of South Tyrol were populated by Ladins as well. Their language was banned; they were forced to speak German; and their surnames were forcibly changed into German during the Habsburgs' germanization campaign between the 16th and early 20th century. A large part of today's "German" population in South Tyrol is of Ladin origin. The 4.53% figure that you're citing is merely the number of people who still speak Ladin as a first language. Most Ladins today speak German as a first language as a result of the aforementioned forced germanization campaign.

Germanization of Ladin surnames
Abänderung ladinischer Familiennamen

The actual Germans — in the ethnic or ancestral sense — are primarily concentrated in the Upper Pusteria, Upper Isarco, Renon, Sarentino and the urban centers. Most of the other territories (such as the Venosta Valley, Bassa Atesina, Oltradige, Lower Isarco, Lower Pusteria, Castelorotto) are ethnic Ladin territories which today speak German — they are not ethnic Germans despite speaking German.

Lukas Hofer is an ethnic German; Gustav Thoeni is not; Eva Klotz is an ethnic German; Arno Kompatscher is not. And yet they all speak German and have German-sounding names. If you knew the history in detail, valley by valley, village by village, then you would know that speaking German or having a German-sounding surname in this province means very little insofar as ethnic origins are concerned. This is an ethnically mixed province, and ethnic Germans are by no means a majority.

"There is irrefutable documentation of the campaign carried out — without any procedure, and not only in past centuries but also in the years that immediately preceded the First World War — for the de-nationalization of Italian surnames in South Tyrol. This operation especially targeted the Badia and Gardena valleys, where the name of the numerous Sorarù families were changed to 'Oberbacher'; Costalunga became 'Kastlunger'; Di Biei became 'Williet'; Alnei became 'Eerlacher'; Aiarei became 'Agreiter'; Comploi became 'Comploj'; Pierantoni became 'Perathoner', etc. However, this campaign of de-nationalization of Italian surnames was carried out with equal action and with equal intensity in all the municipalities of South Tyrol: and so, for example, the Marchetti family of Caldaro (with a provision also in 1913) became 'Marckett'; Nicolussi became 'Nikolusi'; Clementi became 'Clement'; Zanolli became 'Zanoll', etc." (Südtirol und der italienische Nationalismus, Innsbruck, 1990)

Blogger said...

And as for the Aosta Valley: the Aosta Valley has never had anything to do with France nor with French people. Perhaps if you spent more time reading detailed Italian history and less time pretending to be an expert just because you read some English professor, you might known this. Furthermore the patois of the Aosta Valley is not French; it is a set of dialects which belong to the so-called 'Franco-Provencal' group of languages which were spoken in both northwestern Italy and southeastern France since the Middle Ages (and long before those southeastern territories ever had any association with France, I will add; they were spoken there long before France expanded southwards). The Occitan and Franco-Provencal dialects did not spread with "French people"; they were already spoken in Italy, Provence and Upper/Lower Burgundy long before France planted its flag there. The term 'Franco-Provencal' was only coined in the 19th century; historically these lands, its people and its languages have nothing to do with France.

And what "French ancestry" in Aosta are you even speaking of anyway? France is the most genetically heterogeneous country in Western Europe since it is an amalgam of very different ethnic groups. Are you referring to the Italic-Ligurians of Nice? The Basques of Gascony? The Catalans of Roussillon? The Occitans of the Languedoc? The Celtic Bretons? The Normans who have partial Norse ancestry? Or maybe the "very French" Provencals? Or the Germans of Alsace? Or the Savoyards who who were never French? Or perhaps you're referring to the 5+ million Italians that have been absorbed into the French gene pool in the last century and a half? Which of these "ethnic French" are the Aostans descended from according to you?

Even according to the plot that you yourself posted, the Aostans are clearly part of the same genetic continuum with other Italians, located at the top of the cline in accordance with geography as everyone would expect; they are not any more 'outliers' than the Sicilians all the way at the bottom are 'outliers'. In fact, the Aostans are a hell of a lot closer to the Lombard and Piedmontese samples than the Sicilians and Calabrians are. The only real outliers here are Sardinians.

Blogger said...

Since the embedded URL's were automatically removed from my last comment...

Cambiamento dei cognomi ladini: http://www.vejin.com/nomifamiglia.html

Abänderung ladinischer Familiennamen: http://www.vejin.com/familienname.html

List of some of the Ladin surnames changed into German by order of the Austrian government:

Ladin — Germanization
Alnëi — Alneider, Erlacher
Aiarëi — Agreiter
Alfarëi — Alfreider
Biëi — Willeit
Brocia — Nagler
Ciampac — Kompatscher
Ciampëi — Kompeiter
Ciampidel — Kampideller
Ciampló — Complojer
Cianacëi — Kanetscheider
Cianëi — Kaneider
Cianoré — Konrater
Ciaslat — Kasslatter
Ciastel — Kasteller
Ciolá — Kelderer
Col — Pichler
Colac — Goller
Corjel — Koriseler
Corterëi — Kortleiter
Costa — Kostner
Costacia, Costata — Kußtatscher
Costalungia — Kastlunger
Costijela — Costiseler
Derü — Bacher
Dôs — Dasser/Tasser
Elemunt — Elemunter
Frena, Freina, Frines, Frenes — Frenner
Furcia — Furgler
Granruac — Großrubatscher
Grones — Grunser
Larcenëi — Lardschneider
Melaun — Melauner
Mongüc — Mangutscher
Mureda — Moroder
Mus — Mussner
Pardac — Pardatscher
Pecëi — Pitscheider, Feichter
Pedraces — Pedratscher
Peraforada — Palfrader
Pescol — Pescoller
Picolruaz, Piceruac — Kleinrubatscher
Pinëi — Pineider
Plan — Planer, Ploner
Planac — Planatscher
Plaza — Gasser
Pradac — Pradatscher
Pré — Wieser
Rives — Rifesser
Roncac — Rungatscher
Ruac, Robac, Ruacia — Rubatscher, Robatscher, Ruazzi
Runch — Rungger, Ronchi
Somür — Untermauern
Sorá — Solderer
Soraru — Oberbacher
Soratrú — Oberweger, Obwegs, Obex
Sorega — Überwasser
Sottrú — Unterweger
Stufles — Stuflesser
Tornarecia — Turnaretscher
Trebe — Tröbinger
Troi — Troier
Val — Thaler
Valacia — Flatscher
Valgiarëi — Fogereiter
Zanon — Senoner, Sanoner


Some other common surnames not mentioned in the above list include:

Germanization — Original Ladin/Italian
Delazer — Làzzer, De Lazaro
Erlacher — Alnei, Aiarei
Fischnaller — Vicinali
Fissneider — Frassineto
Flarer — Vallarer (from 'Vallarius')
Gamper — De Campe
Kofler — Covelo
Mahlknecht — Morchenet, Molchenet
Matzneller — Marzenell (from 'Marcius')
Nocker — De Nocho, De Noch
Ortler — Ortles (from 'ortola')
Patriffer — Pederif (from 'piè de riva')
Perathoner — Paratòn, Peratogn, Paratoni, Pierantoni
Plancker — Plancher
Profanter — Pradefant (from 'pra del fante' or 'pradavanti')
Runggaldier — Runcallia, Runcaudie, Rungaudie, Rungaudia
Santifaller — Santuèl
Sotriffer — Sotria
Vinatzer — Inácia, Inazza
Wanker — Banch


Sources:

Gröden, Der Grödner Und Seine Sprache: Von Einem Einheimischen (Bozen: 1864)

• G. Alton, Das Grödenthal, in „Zeitschrift des Deutschen und Oesterreichischen Alpenvereins“, Jahrgang 1888 - Band XIX

• A. Achleitner, Tirolische Namen. Handbuch zur Namendeutung (Innsbruck, 1901)

• D. Marini, Un censimento di cognome nel territorio di Bressanone, in «Archivio per l'Alto Adige», vol. XXVI, 1931

• C. Battisti, Storia linguistica e nazionale delle valli dolomitiche atesine (Firenze: 1941)

• C. Battisti, Le Valli ladine dell'Alto Adige e il pensiero dei linguisti italiani sulla unità dei dialetti ladini (Firenze: 1962)

• E, Lorenzi, Osservazioni etimologiche sui cognomi ladini, 1992

Italianthro said...

>>> It's not shorthand at all. Trentino and Alto Adige are two different places, with two very different ethno-cultural realities, and if you're going to be discussing these matters then you ought to know better.

Italy is officially divided into regions not "places", and Trentino and Alto Adige are a single region. If you weren't such a dishonest little bitch, you would have seen that in the same sentence I also used Friuli instead of the full Friuli Venezia Giulia, and you would have recognized both as shorthand (like everyone else did) and not made your nitpicky little comment.

>>> The actual Germans — in the ethnic or ancestral sense — are primarily concentrated in [...]

So you admit there are ethnic Germans in that region, which is exactly what I said in the first place. And by the way, Ladins are not ethnically Italian either. So what the fuck are you even arguing about?

>>> And as for the Aosta Valley: the Aosta Valley has never had anything to do with France nor with French people.

I told you not to repeat that false, unsupported, disproven claim. The study is very clear:

"Aostans do not cluster with subjects from the other Northern Italian regions [...] These results are consistent with the low number of different surnames, mostly of French origin"

>>> Even according to the plot that you yourself posted, the Aostans are clearly part of the same genetic continuum with other Italians, located at the top of the cline in accordance with geography as everyone would expect

Of course, because Southern French are basically part of the genetic continuum of Southern Europeans. No one is saying that Aostans are totally different, but they're genetically more Southern French than Northern Italian, and that's because of ethnic French influence, as the study clearly says.

>>> they are not any more 'outliers' than the Sicilians all the way at the bottom are 'outliers'.

They're outliers compared to other Northern Italians. You can see that there are Northern, Central and Southern clusters, but Aostans form their own separate cluster, which doesn't make sense for such a small region that's so geographically close to the others — unless you understand that they're shifted away from other Northern Italians towards Southern French.

>>> Perhaps if you spent more time reading detailed Italian history and less time pretending to be an expert just because you read some English professor, you might known this.

When have I ever pretended to be an expert? I back up all my claims with evidence from experts. And what are you anyway? Some kind of failed academic specializing in minor details of Italian history who deals with his envy of successful American, British and Italian "Marxist" historians by going online and insulting them, trolling personal blogs, nitpicking everything and not backing up your claims?

Unknown said...

Ladins are not Italians? whaaaa? this ladin guy was killed out of Italian hatred in Switzerland: https://it.wikipedia.org/wiki/Alfredo_Zardini
then not even Friulans are Italians since Friulan and Ladin are strictly related and belonging to the same family. And all Northern Italian languages are more related to Friulan and Ladin then they are to standard Italian anyway.
Aostans speak a language called Arpitan which is closer to Italian than to French. They are not French language-wise and the reason why they are genetically detached from other parts of the North it's because their sample in this study is affected by an extremely high level of inbreeding. It's clearly stated in it. the reason why they have French last names is because French was the official language there between 1561 and 1861. In 1561 the Kingdom of Savoy introduced Italian as the official language through the Editto di Rivoli law except for Aosta and Savoy. Your observation that they are supposedly French because they have French last names doesn't make sense. People are not given their last name in accordance with the language they speak but with the language used in the bureaucracy and institutions of the place they live. And a number of them italianized their last name under Fascism and even after that.
You style yourself as a diaspora italian nationalist but I don't see much nationalism in your blog.

Italianthro said...

That's dumb. Nobody would have known or cared if Alfredo Zardini was Ladin or Italian because it wasn't "Italian hatred". He was killed by a drunk moron because he was a foreign worker in a German part of Switzerland that was very anti-immigrant. The same would have happened if he was Spanish or Romanian, but that doesn't make those people ethnically Italian.

And I'm not gonna argue with another evidence-denier about Aostans. Many have French surnames and they cluster with Southern French genetically, because they're part ethnically French. That's what the study shows. Period.

king_cookie said...

And yet he became a martyr and a simbol of the struggles of italian immigrants. They even wrote a ballad in his memory. And what language do you think people in his birth town of Cortina d'Ampezzo normally speak in everyday life? Klingon?
But I guess you think Friulians are not ethnically Italians either because their language is closely related to Ladin to the point of being called eastern Ladin. And Lombards, Piedmontese are not Italians either because their languages are closer to Ladin than to standard Italian. Riiiight...
Once again Aostans have French names because French was the official language there for a while. Arpitan is spoken also just outside of Turin and a lot of people in Turin have descent from those places. I guess they are not Italians either. The study shows that Sicily plots North of Basilicata which is quite strange and unlike any other study ever done. But I guess it might be a peculiar sample. Just like the sample from Aosta is peculiar, the abstract says it has an insane level of genetic homozygosity due to inbreeding. In a different sample they would cluster normally with other North Italians. Assuming you consider them to be Italians because I'm starting to believe you think anything North of Tuscany is no longer Italy.

Italianthro said...

Yawn. I'm not interested in your opinions and denials.

Ethnic Minorities of Italy

king_cookie said...

So Friuli is not Italian either?
In Di Gaetano (2012) Aosta Valley clusters close to Piedmont. They didn't thoroughly check for ancestry but it doesn't necessarily mean their sample was "invalid".

king_cookie said...

Lest we forget: Austrians listed them as Italians in their ethnic census of 1910. you should have told them, bruh.

https://upload.wikimedia.org/wikipedia/commons/thumb/4/47/Austria_Hungary_ethnic.svg/1162px-Austria_Hungary_ethnic.svg.png

Italianthro said...

Bruh, do you not understand what an ethnic minority is? Ladins and Friulians are Italian in the same way Romansh are Swiss. But really they're all their own unique ethnicity.

And I can't even see the Aostans in DiGaetano's PCA. Where are they? How many of them? Anyway, that study's samples are not very reliable.

king_cookie said...

the "last italian pope" John Paul I was Ladin. let that sink in.
https://it.wikipedia.org/wiki/Papa_Giovanni_Paolo_I

Then again if they are not Italian, you can say the same thing of Lombards, Piedmontese, Ligurians etc. the key word is "recognized" minority. Sardinian was recognized as language in 1997. Lombard, Piedmontese, Ligurian could be recognized as minority languages any time as they are already considered to belong to a different family from Italo-Tuscanian. It's also being argued that Sicilian, Apulian etc. are already too distant from standard italian to be just dialects.
https://it.wikipedia.org/wiki/Lingua_sarda#/media/File:Romance-lg-classification-en.png

DiGaetano is hardly less reliable than Fiorito et al where Sicily plots North of Basilicata among other things.