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Sunday, January 28, 2007

R1b in Italy

In Italy, the most common y-haplogroup is R1b. It accounts for 35% of the members of the Italy DNA Project and about 40% of the total Italian population.

As you can see in the map on the left, it is found at notably higher frequencies in northern Italy than in the south. The regions with the highest concentration are Emilia-Romagna, Lombardia, and Le Marche. The regions with the lowest concentration are Sardegna, Campania, Calabria, and Sicilia.

The regions with the highest concentrations correspond roughly with the area of early Celtic influence and with the territory of the Cisalpine Gaul, and it is thus quite likely that the high frequency of R1b in these northern regions of Italy is due in part to migratory inflows from Celtic areas of Europe. R1b is the dominant haplogroup in northwest Europe, reaching 90% of the population in many areas.

Another explanation is that the modern populations of northern Italy preserve traces of earlier Italian populations (e.g. Etruscans), though this seems less likely to me.

The Etruscans are thought to have been tied to the Veneti, and R1b is present at comparatively low levels in Croat and Slovenian populations (the most direct descendants of the Veneti). On the other hand, R1a is relatively frequent in Balkan areas and in northeastern Italy. You can see traces of this distribution in the haplogroup frequency map for R1a in Italy, on the right, and an incursion of R1b from the Alps would be consistent with the drop in frequency of R1a in the Emilia-Romagna and Marche.

The steep north-south cline of R1b is probably also due in part to migratory inflows from Mediterranean, which resulted in haplgroups E3b and J2 diluting the frequency of R1b in southern Italy.

This can be seen in the map on the left, in which the combined frequency of haplogroups E3b and J2 is shown. E3b and J2 have complex histories, and a full treatment of them is beyond the scope of this discussion. Suffice it to say that southern Italy, Liguria, and Lazio demonstrate a significant impact from the eastern Mediterranean. If there was pre-Neolithic R1b in southern Italy in significant numbers, those numbers are greatly reduced today.

Haplogroup R1b is far from homogenous, however. In recent years professional and amateur geneticists have achieved a much more nuanced understanding of this group.

First, two distinct subclades of R1b have been widely observed and both are represented in the Italy DNA Project. R1b1b is most often found in Central Asia and R1b1c is most often found in Europe. Within R1b1c there are several further subdivisions recoginized in the current ISOGG tree, with the most common ones being R1b1c6, R1b1c7, R1b1c9, and R1b1c10.

R1b1c9 and R1b1c10 are defined by the SNPs S21 and S28, respectively, and both have been observed among our participants. Family Tree DNA does not currently test these two SNPs (EthnoAncestry does, along with some other important novel SNPs), but I expect they will soon. R1b1c9 and R1b1c10 are both associated with contiental Europe and the best thinking is that both originated from in the Balkans or Caucuses (though an Italian origin is, theoretically, possible as well).

R1b1c6 is most often observed in Iberia, while R1b1c7 is most often observed in Ireland. No members of the Italy DNA Project have been found to belong to either of these clades. For this reason, I am reluctant to encourage participants who are predicted to be R1b1c to undertake SNP tests until S21 and S28 (aka U106 AND U152) are included.

Few academic papers have studied the clades of R1b1c in any depth, and John McEwan and others have done an excellent job in collecting data from genealogists who have tested for these markers. I have created frequency maps based on McEwan's data, which show roughly the geographic associations of the four most common R1b1c clades.

One distinction that is potentially relevant to Italy involves a classification scheme that is different from the one used above. This is a bit arcane, but it involves the seperation of R1b1c into two different groups called ht15 and ht35. ht15 is found most in western Europe and ht35 is found most in eastern Europe and Asia. The ht15 and ht35 tests are not commercially available, and these types don't equate perfectly with the SNP-based trees that are currently used.

However one paper, by Cinnioglu et al., examined samples that were previously classified as ht35 for a number of SNPs and Y-STRs. It was found that ht35 contains an absurdly high proportion of DYS393=12. Interestingly, a quick glance at our project's results reveals that DYS393=12 is quite prevalent in Italy (especially southern Italy, as you'll see in a minute).

The vast majority of members of the common R1b1c clades have DYS393 values of 13. In Ireland, Scotland, France, and Germany the frequency of DYS393=13 among R1b folks is over 85%, whereas the frequenc of DYS393=12 is typically less than 6%.

In the Italy DNA Project, by contrast, the frequency of DYS393=12 is 28%: nearly five times as high as in western Europe.

Looking at Italy by region using a larger data set, as the map on the right does, it becomes immediately clear that the DYS393=12 phenomenon in Italy is largely a southern one. Frequencies are fairly high in regions like Puglia, Basilicata, Calabria, and Campania.

In the north of Italy, where R1b is most prevalent, the frequency of DYS393=12 drops to levels more typical of the rest of Europe. Again, this points to the importance of gene flow from Celtic regions to the population structure of northern Italy.

How does this compare with other places?

Well, the Cinnioglu paper found that DYS393=12 reached frequencies approaching 80% in Anatolia and nearly 70% in ht35 samples which were largely collected from the Balkans and Georgia.

I also did a survey of geographical projects at FTDNA and used that data (plus a little more) to create the DYS393=12 frequency map of Europe you see on the left.

I found high levels of DYS393=12 among the Polish project and the Czech project, which is consistent with the notion that high levels of DYS393=12 are associated with a variant of R1b that arose in the Balkans or in Eastern Europe. I also found high levels of DYS393=12 reported in the Dniester-Carpathian region (near Moldova) in a dissertation by Alexander Varzari.

Even among projects that have expressed a great interest in ht35, like the Border Reivers group, I found the overall frequency of DYS393=12 to be quite low and not statistically different from the rest of western Europe. The background levels of DYS393=12 across Europe (about 3-6%) could represent normal diversity within haplogroups that had DYS393=13 as the founder allele or small amounts of eastern R1b that has migrated west.

All in all, the study of R1b in Italy clearly suggests that this haplogroup is associated with both western (Iberian/Celtic) and eastern (Balkan/Asian) sources. It is significantly less clear whether there is a particularly "Italian" variant lurking in all this data.


Blogger Sasa said...

Where did you found that Croats are the most direct descendants of the Veneti? I have read a lot of stories about Croat ancestries and this is not known to me.

Sasa (an R1b Croat)

12:31 AM  
Blogger Vincent said...

Perhaps I was misreading the evidence relating modern populations to ancient ones.

The statement linking the Veneti to modern Croats drew more on lingustic ties between Etruscans, Veneti, and modern Slovenian languages than on published genetic studies.

I'm not a linguist, though, and the connection between linguistic populations and genetic ones is speculative at best.

To the extent that modern ethnic groups have diverse origins from each other, the linguistic/genetic ties break down.

The book I've been reading on the topic is called "Veneti: First Builders of the European Community" by Savli, Bor, and Tomazic.

9:27 AM  
Blogger Sasa said...

If we look for linguistic ties then this is definitely very speculative. Through several centuries Croatia territory has been ruled by very large number of non-Croatians.

To name it few today in Croatian language we have Italian, German, Austrian, Hungarian, Turkish and other words that are in common use and people is not aware of their origin.

12:24 PM  
Blogger Dirk said...

I like your diagrams of the haplogroup distributions in Italy, especially the one of E3b+J2. If you ever have time and the data, please prepare similar figures for other countries, I am personally most interested in E3b+J2, or E3b1a = M78 alone, in Switzerland and Germany.

4:33 PM  
Blogger Marjeta said...

Slovene language (is different than croat language, even if both belong to south slavic linguistic family) share 20% similarities in sound and meaning with Vedic Sanskrit and 2% with Latin. So, it is very old language. And some slovenian linguistics really tried to translate some venetic texts with slovene language and they found some meaning in them, they understood what is written there.In Slovenia they found many venetic traces.Historians agree that antic Venets lived in west Slovenia before some Celts and allso with them and with some Romes and even today, in area of river Soča (west Slovenia)there is at least 20% of these (?, Venets, Celts, very little Rome) gens...

About R1a
There is more R1a in Tadjikistan, Kirgisia, Kashmir (60-70%), between Sorbs (63%)- not Serbs (only 9% R1a but 20% E3b, simmilar than Rumanians, Bulgarians)... Slovenians 37% R1a and north continental Croats around 34%(in Slavonia the most) but just 8% on croat island Hvar, in Hercegovina 14%.. In Bulgaria there is 12% R1a,in Greece (8-21%) but in south Litva 62%,Hungary 60%, Poland 54%,Russia 47%, Iran 38%,Pakistan 37%... So, there is more R1a in north east Europe and in north Balkan than in south Balkan.
I am really interested how is genetic picture in different slovenian areas... In common, there is 21% Slovenians wearing R1b, 28%I, 6%J2, 7%E3b. Great job, Vincent! I hope soon someone will do something simmilar in Slovenia. It will be interesting to compare and analise genetic situation near slovene-italian-croatian border...

Marjeta (an J2b1 Slovene-Italian)

4:43 AM  
Blogger Bismarck said...

Dear Vincent,

Would you please tell me how you made that R1b-ht35 map, using FTDNA project data? Can I get that data?

Thank you very much in advance,

9:22 PM  
Blogger Bismarck said...

Hi again,

Would you please add, or describe, a SCALE to your R1b (ht35) chart? Is that possible?

Thanks again,


11:40 PM  
Blogger aurelio said...

I read the article and I found it very interesting. I got the nat. geo. test some years ago, but they gave a generic answer, I'm R1b, well I found a blog on the web from which I could reckon my subclade has to be R1bc8, but I'm far from sure. from this article I saw that I have 393 with the 13 mutation. Does someone know if there's a link where I can compare my data with the subclades classification? Thanks
For what I know it seems Etruscans came from Anatolia, these data are suggested by the Lemnos inscription and from genetical sources

4:42 PM  
Blogger aurelio said...

it's very interesting the whole article. I got the national geo test for my Y chromosome, but I could only guess which subclade I'm part of. Do you know if there's a link where one can compare his data with the classification. I reckon my subclade is R1bc8 with the 393 13.

4:43 PM  
Blogger aurelio said...

it's very interesting the whole article. I got the national geo test for my Y chromosome, but I could only guess which subclade I'm part of. Do you know if there's a link where one can compare his data with the classification. I reckon my subclade is R1bc8 with the 393 13.

4:43 PM  
Blogger aurelio said...

it's very interesting the whole article. I got the national geo test for my Y chromosome, but I could only guess which subclade I'm part of. Do you know if there's a link where one can compare his data with the classification. I reckon my subclade is R1bc8 with the 393 13.

4:43 PM  
Blogger Ben said...

I just discovered your blogger site and even after skimming it I am already greatful. I read your earlier post about Italians being underrepresented in the databases and couldn't agree more. I am R1b, took the test thru Ancestry. com recently, and plugged my results in everywhere I could. All of my matches have been Brits. I didn't expect to have any close matches, and I was right with that, having an uncommon surname.I am having a hard time with the subclade business; I don't think Ancestry has a grip on that yet. I took a 46 marker test. If it's ok, I would like to hang here a bit and learn a thing or two!

6:50 PM  
Blogger aurelio said...

thanks Ben, for me too it's important to learn something more, when I put on line on Nat Geo my 15 site result
I received lots of comments from english people it seems my genoma is quite common in southern England, but my ancestors are corsicans, from what I found out.

3:43 AM  
Blogger Greatbatch || Studio said...

This comment has been removed by a blog administrator.

3:59 PM  
Blogger aurelio said...

I undergo to deep subclades test of Ethnoancestry, till now, my test is not yet accomplished, i found out a RU152 result. since my ancestor came from northern Sardinia with a corsican last name I guess in this region too one can find this haplogroup normally in relation with La Tène culture

2:47 PM  
Blogger alorik said...

If that is true what one said earlier about Kyrgyz people being so closely related to the Sorbs in that they both share a high concentration of R1A, it would be interesting to know how long ago these people separated, because the Kyrgyz people are a Mongoloid looking people. It would answer how long it takes for a Caucasoid people to physically adapt to their environment and under what circumstances of natural selection. We can also see that once the phonotypical changes have been made and there is no reason for the people to morph back to their original state, they will remain Mongoloid in appearance.

I also think it would be interesting to see where and when the first people in the Western Mediterranean came from. My guess is that answer can be found in the most remote areas like in the Mountainous areas of Sicily, Corsica, Sardinia, and perhaps the Ligurian coast.

9:14 AM  
Blogger alorik said...

To Vincent, about the Slovenian and Venetic language. You claim that archeologists who speak Slovenian were able to understand Venetic writing and inscriptions. How can this be if it is believed that Venetic belonged to the Centum language group like Italic, Germanic, Celtic, and possibly Illyrian, whereas Slovenian, being a Slavic language belongs to the Satum language group. The Slaves probably come from in and around the Ukrain and probably not modern Poland which some Slavic historians try to link to the Lausitz culture or the Balkans.

1:42 PM  
Blogger Marjeta Manfreda Vakar said...

Alorik, hi.
It was me, Marjeta, who wrotte about conection between venetic language and Slovenes. Maybe this can help:

Anton Perdih, Giancarlo Tomezzoli, Vinko Vodopivec


Determining the agreement in grammatical structure and in the language material that bears
the structure in some ancient languages is questionable. Short and damaged inscriptions
which are written in continuous manner, in dialects and with many abbreviations are always
subject to potential error in exact translation. This is the case among the Venetic, Rhaetic,
and Phrygian inscriptions, where it is useful at the moment to only focus on the comparison
of sound frequencies.
Unidimensional as well as multidimensional analyses of sound frequencies in 16 languages,
mostly ancient, where in some of them the division of the continuous text into words is
still questionable, support the previous observation that Venetic and Rhaetic are by sound
frequencies closer to Old Slovenian than to Old Italic languages (Latin, Oscan, Umbrian).
Close to Venetic and Rhaetic are in these characteristics also Old Phrygian and Etruscan.
Interesting is (by this criterion) also the closeness of Estonian resp. Finnic to most of these
languages. Latin, Oscan, and Umbrian form a different cluster than the Etruscan, Rhaetic and
Venetic. Whereas Etruscan is close to Rhaetic, Old Slovenian, Venetic, etc, it is not close to
Hittite and Luvian, from which it is sometimes supposed to derive. Present Venetian dialect is
by the sound frequencies closer to Old Slovenian than to Latin. This indicates that the sound
frequencies are very resistant to phonemic changes.
Analyses of frequencies of sounds and their combinations in various languages give thus
results, which contribute additional light into knowledge of them. They contribute it from a
different and independent point of view than the agreement in grammatical structure and in
the language material that bears the structure.

12:51 AM  
Blogger amar said...

Marjeta,Haplogroup R1a1 is at it's highest amongst upper class Hindus from Northern India. (Kashmiri Brahmins 68%, Bengal Brahmins 72%)

3:44 PM  
Blogger amar said...

There is alot of diversity in Italy and I have to agree it might be a Celtic marker which is the reason it can be found much in Northern Italy.

3:46 PM  
Blogger Ponto said...

This comment has been removed by a blog administrator.

2:45 AM  
Blogger aurelio said...

I've read the Ponto's comment and I have to say I found a mistake he's done. R1b I don't believe has a relation with IE ancestry otherwise one cannot explain the pick one finds in Iberian peninsula, it has a relation with old pre-IE people of hunter-gatherers who resisted the migration of R1A, the true IE, coming from Ukraina, the famous Kurgan folk. Therefore the strong percentage of males R1b in western Europe has a link with Cromagnon cave dwellers.
One has to face the gap between prehistoric Y studies and modern languages and the "sorrow" of seeina that there are no races at all but only human beings!

6:04 AM  
Blogger John said...

Vincent, I have a very interesting question. My Haplogroup is G2a3b1a1a (L13+). My ancestors are from the Campania Region of Italy and I have documented all of them back to my 15th Great-Grandfather who lived during 1393. They have resided in the Avellino Area for all of the past 650 yrs.

The possibility exists that the family did, in fact, travel from (modern day) Southern France (Provence) to fight in Benevento. They came from Provence with Charles de 'Anjou in 1266.

I have a had a 67-marker DNA completed and I would be very interested in learning if my markers are more prominent in Southern France than they are in Italy. If this were to be shown it would certainly re-write the history books that once claimed the lineage Duca di 'Andria had been extinguished during late 1500s / early 1600s.

I would appreciate your input.

Thank you

--- I can be more easily reached through this e-mail address:

9:29 PM  
Blogger birdfamily09 said...

I have a question!

I just got my results today from National Geographic's Genographic Project! and it says I am a member of R1b1b2. My question is, since this is going straight back through my paternal lineage, which is southern Italian(from Campobasso), is this not possible or uncommon?

12:15 PM  
Blogger Grognard said...

birdfamily09, R1b1b2 aka rm269 is one of the most common european markers and exists everywhere in europe to some degree and might predate the last ice age. You could have celtic or norman ancestors to get it in southern italy or your family could have been there for thousands of years and there's no easy way to tell.

12:50 AM  
Blogger jepaspeur said...

Where did you found that the Etruscans are thought to have been tied to the Veneti? I'm in touch with an archaeologist, and he told me the Veneti were Indo-Europeans who were from Central Europe. They weren't Celts but the were EUROPEANS. I know many books are full of imaginative theories on the Veneti from Anatolia, but there are not only one proof, not one evidence, just imagination, while is a security they were from Europe and most likely from German.

10:21 AM  
Blogger Alexandra Ka said...

Long and huge investigation of some top slovenian experts has shown that Slovenians were Veneti. Very interesting but probably there are people who do not want that this information would be disclosed for some reason.

11:38 PM  
Blogger Alexandra Ka said...

This comment has been removed by the author.

11:38 PM  

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