Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts

Tuesday, 7 January 2014

Venezuelan genetics in context

The chart below shows the main genetic components of nationals from different Latin American countries based on DNA tests carried out for a Brazilian research project. The chart represents the "average" citizen. We know Latin America shows a huge variance. As a reference, my DNA profile says I have about 67% European, 25% native American and 8% sub-Saharan markers. That is still close to the Venezuelan average. As we know, every region has its tiny but clear variations.




Thursday, 4 April 2013

National Geographic and my Venezuelan genes




Today I received quite a lot of information from National Geographic's Genographic Project. Here I put the initial results for the autosomal analysis. I will explain the data in the following days.


  • 34% Mediterranean
  • 22% Native American
  • 21% Northern European
  • 12% Southwest Asian
  • 8% Sub-Saharan African
  • 3% North-East Asian






Sunday, 2 December 2012

Venezuelan genetics, revisited

I am taking part in National Geographic's Genographic Project 2.0. I had taken part in the first project, as I a couple of years ago.  Genographic 1 was about analysing the DNA patterns reflecting the origin of our ultimate paternal or maternal ancestors: our father's father's father's father's side or our mother's mother's mother's side. That means just two walks through someone's ancestry graph. For me results went like this: European from the paternal side (but ultimately from a clear Middle East origin) and sub-Saharan from the maternal one. I am sure I have native American blood as well, which is something I can see when I look at some of  my relatives...just like so many millions of Venezuelans.

Since I got the first results I managed to carry out some additional tests and used historical records together with some population registries to find out more about my ancestors. It turned out, by some fortune, that I could discover a little bit more about my ancestors than I had expected. By combining genetic and historical records I know now some of my European ancestors came in the XVI century to Venezuela...rather early. And they were not from the Amos del Valle lot. From the sub-Saharan background I know little, though. I hope that changes in the future.


Genographic 2.0 will present a much detailed analysis of the Y chromosome and mitochondrial DNA profiles, but on top of that it will present an analysis of quite some autosomal markers, which are the ones that result from the mixing that occurs at conception time.

Here you have more information on the test.


Friday, 30 December 2011

Venezuelan genes continued

A couple of months ago a new paper on population genetics on Venezuela appeared: "A Melting Pot of Multicontinental mtDNA Lineages in Admixed Venezuelans", by Gómez Caraballo et alia. The work has very fascinating insights into our genetic structure. Still, I have some questions about the general method.
You get these mitochondria from your mum alone

Scientists used data from Caracas and Pueblo Llano mainly to determine how the native American component was reflected in both groups. The assumption was that new flows of immigrants to Caracas had displaced the Amerindian element there whereas this element would be much stronger in the countryside. Pueblo Llano is a very isolated village in the lowlands of the otherwise very mountainous Mérida state. 

I have reported in a couple of previous posts how we Venezuelans are mostly European from the "extreme" paternal side (father's father's father's...) and "mostly" native American from the "maternal" side (mother's mother's mother's), with African American on both sides as well (but less so in general). This study didn't show otherwise, but it focused on the native American part. This is all relative: you can have an African American mtDNA and your mother can look very European and you can have an European Y haplogroup and your dad looks more African or native American (the last one being much less the case in Venezuela, as male Indians were basically out-bred).

Of the 199 samples from Pueblo Llano 177 persons had native American, 8 African American (4%) and 14 European (6%) haplogroups. The native American component in Pueblo Llano is stronger than in Caracas. This is not surprising. The African American component in Pueblo Llano was much smaller than in Caracas, where 20% had African haplotypes. This is not surprising either, we from history: there were more African slaves close to and in Caracas than in the Llanos or Andean regions.

There are more interesting things: they discovered new haplotypes of the native American A and B mtDNA haplogroups. They also confirmed the A2 clade is predominant in the Pueblo Llano area, just as in Caracas...but unlike in two studies carried out on the Yanomamö. The Yanomamö Indians have a completely different language from Caribs, who still inhabit some tiny regions in South Eastern and Eastern Venezuela and who occupied central and most of Northern central Venezuela when the Europeans arrived in 1498 and Arawaks, who still live in some areas in the Amazonas state as well as in Northwestern Zulia and who also occupied some other areas around current Coro. Their language is also quite different from that of the now extinct Timoto-Cuicas, who inhabited most of the Merida area but who rapidly merged with the Spanish settlers.

There is one item I don't find very academic. They write "native American mtDNA component is by far the most prevalent in present day urban Venezuelans (80%), whereas it is much more frequent in Pueblo Llano ( 90%) than in Caracas ( 65%)." The native American component as reflected by mtDNA is indeed clearly prevalent, but "urban Venezuela" cannot be deduced by simply by calculating the mean from the largest city in Venezuela by far and an extremely isolated area that is much smaller than the average Venezuelan town in the interior. Most Venezuelans (about 70% of the total population) live in cities with more than 100 000 inhabitants but less than one million. The population dynamics from the Eastern side of Mérida and the Western side and central valleys are also completely different from the dynamics in Bejuma or Margarita (even considering Margarita inhabitants with all grandparents born in the island). So: I think a more systematic approach needs to be taken in the future to determine "average populations".

Still, this study discovered a couple of new branches in the A and B maternal haplogroups. There is some material that adds to existing databases and that will help us in the future to establish possible migration routes for pre-Colombian South America. 

It would be great, among other things, to find the closest matches to the Yanomamö within the Americas and to carry out genetic studies on the Carib groups Pemon and Yekwana to see how distant they are, both by mtDNA and Y chromosome sequences. It could be also very interesting to examine further other groups, like the Arutani Sape, if it is not too late.


Tuesday, 29 March 2011

Bolívar's bones revisited



The Venezuelan military regime announced some details about a new maosoleum that is going to hold Bolívar's bones "for eternity". This construction has taken almost 20 million euros from the national treasury at the official rate and is going to cost more, much more. This is going to be an extension to the already existing National Pantheon of Venezuela, now against all kinds of earthquakes. I suppose it is going to be against tsunamis as well.

Meanwhile the regime ordered all scientists working in the analysis of what is pressumed to be Bolívar's bones to be completely hermetic about the findings. This is top secret. Those scientists are trying to find out if some of the conspiracy theories Chávez has in mind about Bolívar's death are true. 

Fat chance you get any news if you ask at the IVIC or to the US and Spanish specialists in charge. Why? Because Chávez is using the whole issue for political purposes and he wants to be the one to reveal an interpretation of the findings when it suits him.

Remember: Chávez is Bolívar's Sibyl. One of the things he loves the most about his job, apart from the possibility of traveling around for free for months and forcing millions of Venezuelans to listen to him every week is to play as Bolívar's medium on Earth, specially while holding Bolívar's gold sword, which is now under his special custody while it was in a museum before.

It would be nice if the democratic forces publicly asked Chávez to stop using bones for political purposes and let scientists say whatever they have to say now and go to work on something else.

So far we have heard those bones do seem to come from the Venezuelan XIX century caudillo and greatest self-promoter of all times and that the original owner of those bones had mostly European ancestors but was of mixed raced (male Y chromosome haplogroup and - I guess- native American mDNA as most Venezuelans, perhaps with some African background). This is just what you would expect from anyone whose ancestors had been living in Venezuela for several generations.

Of course, Chávez will be trying to interpret this last part in the ways he needs. I wonder if he is also trying to see who the closest common ancestor between himself and Bolívar was.

Thursday, 26 November 2009

The First Nations in our blood

Map showing how main female genetic markers spread



Population genetics has been providing new insights into where we all came from, what roads we took to settle the world and how each of our many ethnic groups interacted with each other. Very little research has been carried out in Venezuela compared to Europe. Still, Venezuelan scientists have carried out some interesting studies. They confirm a lot of what historians knew but they also provide new details that could help us fill in some of the gaps in our understanding of the past.

I have written before about some of those studies. Basically, they confirm what most Venezuelans but our president knew: the vast majority of Venezuelans are very mixed, most of our male ancestry is of European origin and most of our female ancestry is native American and there is sub-Saharan influence on both sides as well.

Native Americans keeping a distinctive ethnic group are a tiny minority in Venezuela these days. I have talked a little bit about those groups. A lot of Venezuelans have some native American background, though, even if they look very European or African or anything else. Still, little do they know about that background. We eat arepas, we eat cachapas, we use some Indian words in our Spanish (less than Bolivians, Peruvians or Mexicans, but still some like cuaima or catire) but we don't know much more about our American ancestors. As Alexander von Humboldt noted already after his 1799-1801 trip through Venezuela, most Venezuelans have lost track of their history, their European, their native American and their African history.

The historical records tell us that there were some Indian groups around the Tacarigua Lake, some others in what is now Caracas, some others in Margarita Island. We know about some of those groups have the same language and others belonging to very different groups with very different looks and customs.

Very roughly, we know a lot of the West of what is now Venezuela was populated by Arawak groups (Arawak being a very broad term, like Romance groups or Slavic groups) and a lot of the East was populated by Carib groups (also a very broad term). We also know there were isolated groups that spoke languages completely different to all the others. We still have in Venezuela about 30 languages that represent several language families, quite a lot of variety compared to what you see in Europe. The native Americans are now mostly in remote regions on the West, on the East and South. Still you see the Arawak groups more to the West, the Carib more to the East and both in the South, but there are exceptions, like Carib Yukpas in Zulia, and there are many groups that have very different languages to all the rest, like the Waraos.


Some Venezuelan scientists presented a paper this year where they showed a first study on "Mitochondrial diversiy in Northwest Venezuela" and "Implications for Probable Prehispanic Migratory Routes".

Dinorah Castro de Guerra, Figuera Pérez, Izaguirre, Rodríguez Larralde, Guerrera Castro and other Venezuelan researchers chose 4 communities in Northwestern Venezuela: three very small towns in Northwestern state Falcón and Barquisimeto, a big city and capital of Lara (to the South of Falcón). They selected their samples from people whose grandparents were all born in the same town, signifying people who were likely to have very strong roots with the place.















The mitochondrial DNA (mtDNA) is always inherited through the mother and the Y chromosome through the father. A certain pattern of DNA sequences in the mtDNA or Y chromosome can be used to identify a a genetic group, a haplogroup. In this case, most of the mtDNA haplogroups (refering to the mother's mother's mother's...) were of native American original, albeit there were also instances of sub-Saharan African and European groups.
This contrasts with the markers on the Y chromosomes, which show, as usual in the Americas, that Venezuelans have on the paternal side mostly European haplogroups.

There are 4 native American mtDNA haplogroups and they are known simply as A, B, C and D. H is the most typical of European populations, J is typical of Middle-East, Northern Africa and Europe, U is mostly in the Old World outside sub-Saharan Africa and L and L3 are mainly found among sub-Saharan populations and recent descendants (like slaves).

Here I plot the mtDNA haplogroup distribution for every town in this study.

Some of the things we can observe:

















  • As in previous studies, the Indian contribution is the most frequent on the female side
  • the European maternal contribution in traditional populations in those towns is much lower than in the main cities as in the capital (see what I wrote on a previous study for Venezuela's capital here)
  • Macanillas is a place where people apparently have very unique haplotypes and in general there seem to be a lot of unidentifiable haplogroups in this study (errors? something special about hardly studied groups?).
  • The African maternal contribution is slightly higher in the most costal village, which is not surprising for anyone who has been to Venezuela
  • It seems as if on the coast (Macuquita) haplogroup D is particularly represented, which could hint at Indian populations that differ more from the other 3 locations
All this should be taken with a pinch of caution. The samples were taken from 81 persons in Barquisimeto, 25 in Macuquita, 58 in Churuguara and 29 in Macanillas.

I will continue in a future post with some proposals for future studies on Venezuelan population genetics.



























































Wednesday, 30 September 2009

Venezuelan colours II

Venezuela is very mixed, as we have often mentioned, but: how mixed is it precisely? What differences are there exactly across social groups?

Population geneticists help to investigate how homo sapiens expanded from Africa to settle the whole world and how different groups intermingled. One of the main sources they have are non-recombining pieces of DNA. These are genetic markers we all get from one side of our ancestors only. Most of the DNA information in our cells are a "random" mixture of both parents' genes: it is not possible to know but some parts get transmitted almost unchanged from father to sons across many generations or from mother to daughters and sons. They are patterns that are recognizable after thousands of years. Only from time to time there are minor mutations and those mutations help us see how different branches of mankind appeared.

The markers on the males' side are patterns of DNA-bases found in the Y chromosomes. I have the same sequences as my dad but for very minor variations. The markers on the female sie are DNA bases found in our mitochondria, little structures we all have in all our cells and which we get exclusively from our mothers. We all have the spitting image of our mother's mitochondria.
As populations in previous times stayed put in some places and did not mingle randomly with others, geneticists have been able to find haplogroups that are shared by all common ancestors of an individual many years ago. Things get much more complicated than that, but basically, with those haplogroups we can track down a whole line, either on the paternal side or on the maternal side of each man and on the maternal side of every woman on Earth.





Like your mother










The Y: like dad's







Sub-Saharan Africans, Europeans, Asians and native Americans have particular haplogroups. If you see a "sub-Saharan" male haplogroup in an European, this means that the father of the father of the father...of that European (a male as only males have Y chromosomes, unless we are talking about very unusual cases) came from sub-Saharan Africa in recent history. The same goes on the female side.

I am Venezuelan and as I wrote in previous posts, I have the usual admixture. My paternal haplogroup appeared in the Fertile crescent around 18000 years ago and it is present in lots of Lebanese, Iraqis, Syrians, Turks, Armenians, Greeks, Southern Italians, Jews and to a lesser extent Spaniards. I got it from there. My mother's haplogroup is sub-Saharan and most likely a female ancestor of mine was a slave brought to Venezuela between 1528 and 1810 (it could have come indirectly through Spain as 1-3% of Spaniards also have sub-Saharan female haplogroups, but that is less likely). That lady was from West Africa. That is only part of my background. As my family has been in Venezuela for a long time, it is almost certain there is native American blood there as well and from other parts of Europe (two of them I know) and Africa. One has 2 parents, 4 grandparents, 8 great-grandparents and 2 times n ancestors n generations ago.

Now back to the study carried out by Rodríguez-Larrade. The blood samples were from 50 and 60 individuals who were in a public and a private maternity respectively.

The results for male haplogroup origin in the public maternity (where the dad of the dad of the dad of the dad...of the males came from) showed this:














The results for male haplogroup in the private maternity showed this:













A lot of the people in public hospitals are people from families who came from the countryside to the capital in the last 50 years. About 40% of the grandparents of the people in the private clinic were born in Europe. As the study says, "Many of these migrants, mostly Spaniards, Italians, and Portuguese, helped to develop economic activities related to commerce and construction, activities that rapidly introduced them to the high socioeconomic level. On the other hand, most of those individuals at the low socioeconomic level are a consequence of rural-urban internal migration; they seem to be more representative of the traditional Venezuelan population. This reveals that the identification of the grandparents' geographic origin is an important methodological aspect to take into account in genetic studies related to the reconstruction of historical events."

Still, in both cases we see the European component on the male side is the dominant by far. Male Indians were killed or outbred in previous centuries, whereas the conqueror or richer settler reproduced more, as all around the world.

On the background we got from our mothers, we have a completely different picture. The background in the public maternity looked like this:














The genetic background on the female side in the private clinic looked like t his:














Let's hope in the future there won't be such differences and our public hospitals become as good as those in Northern Europe. Let's hope any background differences between public and private clinics disappear.

In any case, we sum up saying Venezuelans are, genetically speaking, mostly European on the paternal side and mostly native American on the maternal side, with a sub-Saharan component on both sides (as my maternal haplogroup shows) but any mixture is part of Venezuela and most Venezuelans have a bit of recent background from every continent. There are obvious ethnic differences, although smaller than elsewhere: the poor of the present tend to be descendants of the poor of yore, who tended to be more descendants of Indians and slaves, although it is a matter of some degrees. There has been a lot of mobility in Venezuela for many decades now, probably more than in many other places, although not as we would want. The main reason is the little support given to the quality of education of the poorest, something that hasn't changed.

The cool thing is that a Venezuelan of German or Lebanese, Japanese or Peruvian parents is just that: a Venezuelan with foreign parents, but a Venezuelan 100%. She is also going to eat her arepas and cachapas, she will have the same Venezuelan music, use the Latin American Spanish adorned with those Indian, African and Italian words

Genetics can take us further and teach us more about the history of Venezuela. We will write about this in future posts. But it does not take genetics for us to know we need better education for the poor. This will help us reduce all kinds of social differences and get us on the road to sustainable development.

Friday, 25 September 2009

Venezuelan colours

UPDATED

We have always known Venezuela has a great ethnic variety. The admixture is not just at the level of groups ("there are lots of people from all over the world", but at the level of most families, at the level of all of us:
most Venezuelans have a very varied ethnic background

Alexander von Humboldt wrote about the proportion of different ethnic groups in Venezuela during his times there. He estimated that at the start of the XIX century some 800000 people were living in Venezuela. Some 12000 were "European born whites", 200000 were American whites (people like Miranda or Bolívar), 406000 were "mixed", 62000 were black slaves and 120000 were "pure Indians". The German Wikipedia as well as many other European or US American reference books now say things like this: "67 % of Venezuelans are Mestizos, 21% are of European, 10% of African and 2% of Indian origin". Humboldt was more or less on the right track back then, but modern encyclopaedias from the North are definitely not: the great majority of Venezuelans have European, African and Indian origins and there is little use in putting people in one box only.

In recent years geneticists have carried out very interesting resear
ch work on the Venezuelan population. Results have confirmed what most Venezuelans thought. Still, the new studies give us more details about how we, Venezuelans, came to be. I will comment about those studies here and in later posts.

A particular study carried out by Rodríguez-Larrade and others in 2007 on the population of Caracas (abstract here) shows interesting patterns. Scientists performed tests with blood samples from patients in private or public hospitals of the capital. They analysed autosomal markers (based on genetic information that comes from both father and mother), markers transmitted through the Y chromosome only (and thus only inherited from fathers to sons) and markers transmitted through the mitochondria (given from mothers to all their children).

The tests on autosomal markers for people in private hospitals show this: 75% of the autosomal markers were of European origin, 17 were of Indian origin and 8 of sub-Saharan provenance. People in public hospitals had the following pattern: 32.8% were European markers, 39.7% were native Ameri
can and 27.5% sub-Saharan.

Sadly but not surprisingly, even in Venezuela people with a darker skin tend to be poorer and go to publi
c and very overcrowded hospitals with little resources. People with a recent European background (parents are European) tend to be better off and they go to private institutions. The situation is not as bad in in many other countries, even if racism is still very present in Venezuela. Still, it is a big problem. This issue is mostly based on the fact people with poor education earn less and find it more difficult to provide for a better environment. The State has never done its homework as it should.

In spite of this division, a big admixture is present in both private and public hospitals.

Now, autosomal studies are not the whole story. They just give us some glimpse about the geneti
c contributions of people in general. It gets more interesting. Genetics can tell us a little bit more than what we knew from recorded history. It can help us broaden our picture of how we came to be Venezuelan. I will write about that in a future post.




























Ps. Multiply the column value by 100 to get the percentage.