Compare Y-DNA and autosomal DNA admixtures : the Indians, Turks and Iberians

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Dienekes Pontikos' Dodecad Project is getting more accurate week after week. The current admixture results can already shed some light on a few of the great question marks in population genetics.

Y-DNA only gives a very partial picture of historical population movements. My hypothesis is that some Y-chromosome haplogroups do produce more male offspring than others, so that their frequency naturally increase in relation to other haplogroups. I believe that this is the case of at least haplogroups R1a1a and R1b1b2a.

The Indians

Just how much (Indo-)European blood is there in the Indian subcontinent ? Haplogroup R1a can peak over 70% of male lineages in some parts of Pakistan or in some Brahmin communities. Overall, it ranges between 40 and 55% of all lineages in Pakistan and North India. Add to this West Asian haplogroups like G and J, and one could be fooled into believing that half of the Indian and Pakistani gene pool comes from Europe of the Middle East. Autosomal DNA completely disproves this.

It would seem that European DNA amounts to a meagre 1 to 5% of the gene pool in South Asia, with the exception of the Pathans who have a slightly higher percentage (7%). However this is not the whole picture. The Dagestan component (ranging from 7 to 15% in Pakistan, North India and South Indian Brahmins) most probably reflects a North Caucasian admixture dating from the Indo-European migrations. Altogether, the Indo-European admixture (Dagestan + European) amounts to 26.3% for the Pathans, 14.7% for the Sindhi, 13.8% for the Andra Pradesh Brahmins, 12.6% for the Tamil Brahmins, 9% for the Gujarati, 6% for the Balochi, 3.3% for the North Kannadi, and is almost null for the lower caste and tribal Indians.

There is also the West Asian component, which in all likelihood represents the spread of agriculture from the Caucasus and northern Mesopotamia towards Central and South Asia. There is a clear west-east gradient in the West Asian component, starting at over 70% in the South Caucasus and northern Iraq and 65% in Iran, and falling sharply to 10% in Balochistan (West Pakistan), 6.5% among the Pathans (Afghanistan-North Pakistan), 3.5% in Sindh (South-East Pakistan), and a mere 2% in Gujarat (West India, at the border of Sindh).

The Pakistan component

The small percentage belonging to the Pakistan component in Europeans is surely mis-attributed and more likely another Indo-European element. I am not saying that the whole Pakistan component is Caucasian or European in origin, but rather that it could and should be sub-divided and will in all probability spawn a new component matching all the European, most of the Caucasian and part of the South Asian admixture now labelled as Pakistan. This is obvious from the 3-way admixture graph.





For example, the Balochi are 70.7% Pakistani, 7.7% Indian, 2.1% North Kannadi, and 1.2% Irula; in total they should be 81.7% South Asian in the admixture-3 graph, but they are only 40% South Asian. This means that about 30% of the Pakistan component is really South Asian, but 40% is West Eurasian.

Note that the Pakistan component is very low in tribal, Dravidian and lower caste Indians, though a bit higher than the European and Dagestan components. Yet it is quite important among the Brahmins (18.5%), and even exceeds the total of the West Asian, Dagestan and European components. I wouldn't be surprised if this over half of this Pakistan component was in fact of Indo-European origin. This would explain why it is found in Europe, in the Caucasus and among Brahmins. If the Pakistan component can be divided, the part corresponding to a West Eurasian origin could be called "Aryan", or even merged with the Dagestan component.


Relation with Y-DNA haplogroups

The Neolithic West Asian component was most likely carried by members of haplogroups G and J2.

The Bronze-Age Indo-European invaders were probably a hybrid group of North Caucasians (Dagestan) carrying haplogroups G2a3b1a, R1b1b and R1a1a, and southern Russian R1a1a (here represented by the European component). The North Caucasian group would have merged with the Russian group in the Volga-Urals region (Sintashta-Poltavka culture), prior to conquering Central Asia (Andronovo culture) as far as northern Pakistan, then brought their armies to northern India.

However, the percentage of the European R1a is completely out of proportion with the actual European blood in South Asia (unless European blood is hidden in the Dagestan and Pakistan components). I think that the explanation is similar to that of the R1b dominance in Western Europe. In summary :

Likely reasons why R1a became dominant in South Asia

1) R1a produces a slightly higher percentage of male offspring than other haplogroups, which has for effect an exponential increase in R1a lineages over time.

2) Until recently, sultans and maharajahs in India and Pakistan have had a tradition of having harems. The largest could hold over one hundred concubines. It was not uncommon therefore for rulers to have many dozens of children.

Furthermore, the Indian subcontinent has long been divided in hundreds of small kingdoms, where each ruler had his own harem. Had India been mostly unified under a single emperor with a single harem like in China, the impact on the overall population would have been far smaller.

If this polygamous system goes back to ancient times (e.g. the Indo-European conquest of South Asia 4000 years ago), it is easy to see how a fairly small group of aristocrats could have fathered 40% to 60% of male lineages in the region.

Concretely, if the Aryan nobility had in average three times more descendants than men from the populace (a very conservative estimate), in a stable population, a 1% minority of paternal lineages would turn into a 30% minority in only ten generations. Naturally, if the wives and concubines were taken mostly from the local population, only a small fraction of the conquerors' autosomal DNA would survive after 40 centuries. This is exactly what we witness today.

Explanations as to why autosomal European DNA is so low compared to European Y-DNA in South Asia

1) The Indo-European speakers from Russia who carried the original R1a lineages first mixed with Central Asian populations (who were probably closer to South Asian and West Asian ones at the time) before conquering India. This explains why the percentage of both R1a and European autosomal DNA is higher around Afghanistan, Tajikistan and northern Pakistan, then decreases progressively towards southern an eastern India.

2) Indo-European conquerors probably took a lot of native wives in the early years, which further diluted the European autosomes while keeping hg R1a high. I expect that the same thing happened with R1b among the Basques.


Some people have advanced the possibility that R1a was already present in India long before the Bronze Age, in Paleolithic times. Phylogenetic studies, though, point at a South Siberian origin of R1a, which I think is too remote from India to support such a hypothesis. Indian R1a lineages show less divergence than those in Central Asia, Russia or the Balkans. Although Indian R1a is quite varied, this kind be better explained by the huge historical population of India. More births create more mutations. This should be considered when calculating the time to the most recent common ancestor. The Indian subcontinent is at least 10 times more numerous than southern Russia and Siberia nowadays, and certainly held an even greater proportions in the past, before modern agricultural techniques, modern transportations and modern housing allowed for higher densities of population in very cold and isolated regions.


The Turks

Here the 7% of Siberia and East Asian haplogroups of probable Turkic origin (C, N, O, Q) corresponds quite well to the 6% of Siberian and East Asian autosomal DNA. Likewise, the roughly 5% of typical South Asian haplogroups (H, L, R2) are not far off the 3.5% of Indian and Dravidian (Irula and North Kannadi) admixture. Both were of course a bit diluted.

This graph shows a clearer picture, with about 3% of South Asian, 4% of Northeast Asian and 2.5% of East Asian.



Turkey is a good example of how an ethnic minority can impose its language on a vast territory (Turkic languages originated in the Altai region of Siberia near Mongolia).


The Iberians

There has long been a controversy (on this forum) about the origin of African haplogroups (E-M81 or mtDNA L) in southern and western Iberia in particular. Autosomal admixture confirm a small but substantial percentage of both Northwest African (5.7%) and East African (1.8%) DNA among the Portuguese. Spaniards have in average 2.2% of Northwest African DNA, 0.6% of East African and 0.2% of West African. The Basques, who have nearly no African Y-DNA or mtDNA, lack completely African autosomes.

Portugal

The Portuguese have in total 7.5% of African autosomal DNA, which matches the percentage of African Y-DNA. According to the Adams et al. study of Iberian Y-DNA, North Portugal has 3% of E1b1b1b (E-M81) and 3% of sub-Saharan African E1. South Portugal has 8% of E-M81 and 1% of E1b1a. This gives an average of exactly 7.5% of African Y-DNA for Portugal.

4.5% of the Portuguese autosomes originated in Southwest Asia (I.e. the Arabian peninsula, Levant and southern Mesopotamia). Haplogroups corresponding to this region are E1b1b1a (E-M78), E1b1b1c (E-M123), J1 and T. To facilitate the breakdown I will consider G2a and J2 as West Asian, and L as South Asian. Still based on Adams et al., the North Portuguese have in total 11% of Southwest Asian haplogroups, against 16% for the South Portuguese. In this case the Y-DNA exceeds the actual autosomal percentage. This is almost certainly because Southwest Asian were already a melting pot of populations, that included some European blood. The Dodecad admixtures show that the Syrians, Jordanians and Egyptians have between 15% and 20% of South European DNA.

The same thing can be observed with West Asian haplogroups (G2a, J2), which make up 19% of lineages in North Portugal and 24% in South Portugal, but only reach 7% of autosomal DNA.

Here are the admixtures of Portuguese Dodecad members.

Portuguese.jpg



Spain

The Spanish have 3% of African autosomal DNA, which is roughly equal to the proportion of E-M81.

Spaniards have been much less influenced by the Middle East than Portugal, except for the regions of Extremadura, Andalusia, Murcia and Valencia. In average they carry only 3.3% of Southwest Asian autosomal DNA, and 8.5% of West Asian one. This is more in agreement with Y-DNA (roughly 5% from Southwest Asia and 7% from West Asia) than in Portugal. But it would be interesting to compare Dodecad results region by region.


Analysis

It is not surprising to find a high percentage of Southwest Asian DNA in Portugal and southern Spain considering the importance that the Levant and Arabia played in the local history, starting with the establishment of Neolithic farmers some 8000 years ago, then the Phoenician colonisation, and finally the Arabic conquest of Al-Andalus.

The ratio of northern vs southern European DNA is about half-half for Portugal and 1/3 northern, 2/3 southern for Spain. This supports the theory of a denser Germanic in Portugal than in Spain.
 
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I'm not certain how you calculated the African component in Portugal but, outside the capital area (which borders south and central), the south is far less populous than the north. For example, the Alentejo and Algarve provinces combined comprise only ~10% of the entire Portuguese mainland population. The 7.5% figure seems to be a simple division by two of 15%, or 9% (south) and 6% (north), and does not take into account differences in population totals between the northern and southern regions. The true African autosomal average for Portugal is probably between 6.5 and 6.75%.
 
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Finns

Interesting also, that Finns, who have around 60% of y-DNA N1c, and a controversy has been made about their mongoloid input, in the autosomal show 7.5 % Northeast Asian, (highest in Europe after Russians) 0.3% East-Asian, 0.5% South Asian making them around 8.3 % Asian

About the case of Spaniards, the 2% north-african is really small and could be indigenous of Iberia. The 0.1% african is noise, since there some small margin of error. Dienekes said it. Actually in other autosomal studies, like the González-Pérez et al. (2010) found only 0.01% of african in Spain and also the López-Pérez et al. found no single mtDNA L in a sample of 686 spaniards. Also consider that the spanish samples consists of andalusians and catalans. The catalans, as seen in the Behar sample and the dodecad members have 0% or near of north-african and southwest asian scores. Here is an example, member DOD127 is a catalan :

http://3.bp.blogspot.com/_UOHFTxL-b...U/e7ONQDiQqdI/s1600/ADMIXTURE_DOD213-221.jpeg
 
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Finns

Interesting also, that Finns, who have around 60% of y-DNA N1c, and a controversy has been made about their mongoloid input, in the autosomal show 7.5 % Northeast Asian, (highest in Europe after Russians) 0.3% East-Asian, 0.5% South Asian making them around 8.3 % Asian

About the case of Spaniards, the 2% north-african is really small and could be indigenous of Iberia. The 0.1% african is noise, since there some small margin of error. Dienekes said it. Actually in other autosomal studies, like the González-Pérez et al. (2010) found only 0.01% of african in Spain and also the López-Pérez et al. found no single mtDNA L in a sample of 686 spaniards. Also consider that the spanish samples consists of andalusians and catalans. The catalans, as seen in the Behar sample and the dodecad members have 0% or near of north-african and southwest asian scores. Here is an example, member DOD127 is a catalan :

http://3.bp.blogspot.com/_UOHFTxL-b...U/e7ONQDiQqdI/s1600/ADMIXTURE_DOD213-221.jpeg

Catalonia would certainly have little in terms of African affinities given its geographic location.
 
Analysis

It is not surprising to find a high percentage of Southwest Asian DNA in Portugal and southern Spain considering the importance that the Levant and Arabia played in the local history, starting with the establishment of Neolithic farmers some 8000 years ago, then the Phoenician colonisation, and finally the Arabic conquest of Al-Andalus.

The ratio of northern vs southern European DNA is about half-half for Portugal and 1/3 northern, 2/3 southern for Spain. This supports the theory of a denser Germanic in Portugal than in Spain.
Your analysis is wrong. The southwest asian of Spaniards is actually lower than that of North Italians, who have no history of phoenicians.
 
I wonder if the amount of Sub-Saharan DNA found in Portugal is a remnant from Portugal's long history of exploration and colonies in Africa? Or exchange of African DNA from Brazil?
 
I moved Carlitos' unrelated post about Iberian mtDNA here. I also removed the full quote from my original post in Cambria Red's replies. Please only quote the relevant section of a post and only if necessary.
 
Your analysis is wrong. The southwest asian of Spaniards is actually lower than that of North Italians, who have no history of phoenicians.

I didn't mention the Italian, but it is common knowledge that the Italian and the Greeks have a lot of Near Eastern ancestry - far more than Iberians. The Etruscans are thought to have originated either in the southern Levant (Israel/Palestine/Jordan) or in Anatolia. I didn't mention it because I thought it was not a debate point anymore. The autosomal study confirmed 8% of Southwest Asian DNA and 22.8% of West Asian in the Tuscans (so 30.8% Near/Middle East in total). South Italians have a much higher percentage still; for instance Sicilians have 17% Soutwest Asian and 29.4% of West Asian ancestry (= 46.4% Middle Eastern) to which could be added 2% of North African and 0.5% of sub-Saharan African.
 
Catalonia would certainly have little in terms of African affinities given its geographic location.

I expect Catalonians to be fairly close to the Basque in terms of African admixture (so close to none). Based on Y-DNA frequencies, most of the African and Southwest Asian blood in Iberia is in the south and west of the peninsula, while the north-east is almost 100% European or West Asian.
 
Finns

Interesting also, that Finns, who have around 60% of y-DNA N1c, and a controversy has been made about their mongoloid input, in the autosomal show 7.5 % Northeast Asian, (highest in Europe after Russians) 0.3% East-Asian, 0.5% South Asian making them around 8.3 % Asian

Finland is an interesting case too. It is physically obvious that the Finns are Europeans with a small Mongoloid admixture. But it is also the case of the Swedes and Norwegians, who have a much lower percentage of Siberian haplogroups. I guess that when N1c came to Finland its carriers were already mostly European at the autosomal level. The Finns have almost purely European mtDNA. How a group of N1c men became autosomally European is harder to explain, but many scenarios can be envisaged with a bit of imagination. It might have been a similar process to the exponential growth of R1b in Western Europe.
 
The true African autosomal average for Portugal is probably between 6.5 and 6.75%.

You can only get a country's true percentage by testing everybody. DNA studies are always approximations. It's very possible that some Portuguese have no African DNA at all, while others have 15% of it. The oldest a component is in a population, the most likely it is evenly spread out among its members. If the African admixture is recent (e.g. from the African colonies, or even from the Islamic conquest), it is likely to vary a lot between individuals. If it is very ancient (Paleolithic or Neolithic), almost every Portuguese will carry some of it in his/her genome.

6 samples is too little to estimate how old is this African component. What about you, did you do the 23andMe test ? (if not, now is the time, it's only about 100 euro for the full test until Xmas) Did you submit your results to Dienekes ?
 
I wonder if the amount of Sub-Saharan DNA found in Portugal is a remnant from Portugal's long history of exploration and colonies in Africa? Or exchange of African DNA from Brazil?

From the studies I have read, most of it seems to be very old and probably spread by Mesolithic and Neolithic Berber migrations. The slave-trade had very little impact. Actually, some alleged Sub-Saharan Haplogroups found in Portugal are Asian and earlier research may not have been representative of the indigenous population. Considering both Y-DNA and mt-DNA, true SS Haplogroups probably average out to < 3% in total. Trivial levels that have no effect on phenotype. BTW, autosomal research shows SS markers at 0.1%.
 
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You can only get a country's true percentage by testing everybody. DNA studies are always approximations. It's very possible that some Portuguese have no African DNA at all, while others have 15% of it. The oldest a component is in a population, the most likely it is evenly spread out among its members. If the African admixture is recent (e.g. from the African colonies, or even from the Islamic conquest), it is likely to vary a lot between individuals. If it is very ancient (Paleolithic or Neolithic), almost every Portuguese will carry some of it in his/her genome.

6 samples is too little to estimate how old is this African component. What about you, did you do the 23andMe test ? (if not, now is the time, it's only about 100 euro for the full test until Xmas) Did you submit your results to Dienekes ?

I ordered the test. I have only had haplogroup and subclade testing done.
 
I didn't mention the Italian, but it is common knowledge that the Italian and the Greeks have a lot of Near Eastern ancestry - far more than Iberians. The Etruscans are thought to have originated either in the southern Levant (Israel/Palestine/Jordan) or in Anatolia. I didn't mention it because I thought it was not a debate point anymore. The autosomal study confirmed 8% of Southwest Asian DNA and 22.8% of West Asian in the Tuscans (so 30.8% Near/Middle East in total). South Italians have a much higher percentage still; for instance Sicilians have 17% Soutwest Asian and 29.4% of West Asian ancestry (= 46.4% Middle Eastern) to which could be added 2% of North African and 0.5% of sub-Saharan African.
West Asian is not middle-eastern, but Caucasian, as it peaks in the caucasus populations (Georgians, Lezgins, Armenians, Adygei). And Iberians have less West Asian than Germans, French or White Utahns. And btw I didn't mention Italians, but North Italians. From a genetic and historic point of view they are very different. We have even lower southwestern asian than North Italians, and they don't have a past of phoenicians nor levants.

I wonder if the amount of Sub-Saharan DNA found in Portugal is a remnant from Portugal's long history of exploration and colonies in Africa? Or exchange of African DNA from Brazil?
hmm 0.1% of sub-saharan is basically nothing. They have the same amount of East-Asian actually (0.2 %). And we were not invaded by Chinese people lol. The same can be said about other countries, for example French have 0.3% south-asian, or belorusians and finns 0.3% east-asian, or Scandinavians 0.7% northeast Asian and Finns 7.5%, Belorusians 0.8% etc.
I expect Catalonians to be fairly close to the Basque in terms of African admixture (so close to none). Based on Y-DNA frequencies, most of the African and Southwest Asian blood in Iberia is in the south and west of the peninsula, while the north-east is almost 100% European or West Asian.
The catalans in the Dodecad project look like the French but with less north european and more s.european.
 
I ordered the test. I have only had haplogroup and subclade testing done.

Then it's not the 23andMe test. If you had the ancestry version, it was automaticallu upgraded 3 weeks ago to the full version for free.
 
West Asian is not middle-eastern, but Caucasian, as it peaks in the caucasus populations (Georgians, Lezgins, Armenians, Adygei). And Iberians have less West Asian than Germans, French or White Utahns. And btw I didn't mention Italians, but North Italians. From a genetic and historic point of view they are very different. We have even lower southwestern asian than North Italians, and they don't have a past of phoenicians nor levants.

Most definitions of the Middle East include Anatolia and usually also the Caucasus.

The West Asian component in the Dodecad Project peaks in the Caucasus, but is also very strong in Assyria (i.e. Syria + North Iraq) with 53.4%. Turkey comes next with 48.6%. Even the Jordanians in the southern Levant have a fairly high 31.6%. Iran is not in the K=10 admixture, but it is listed in the Fine-scale admixture in Europe (Dagestan/Basque/Sardinian components) and comes right after the Caucasus with 65%. The Pathans have 40% in the K=10, so I can only suppose that the Iranians have more.

Anyway, West Asian means "northern Middle East and Caucasus" and corresponds mostly to Y-DNA hg G1, G2 and J2. Southwest Asian means "southern Middle East" and corresponds best to hg E1b1b1a, E1b1b1c, T and J1.

The catalans in the Dodecad project look like the French but with less north european and more s.european.

That seems about right. North-East Spain is very close to South-West France genetically, probably closer than with the rest of Iberia.
 
Anyway, West Asian means "northern Middle East and Caucasus" and corresponds mostly to Y-DNA hg G1, G2 and J2. Southwest Asian means "southern Middle East" and corresponds best to hg E1b1b1a, E1b1b1c, T and J1.
But how can this West Asian component be related to Hg's G1, G2 and J2 when Iberians have less West Asian than Germans or White Utahns ??

That seems about right. North-East Spain is very close to South-West France genetically.
The french samples were taken in Lyon. Spaniards in general are the closest genetically to French in all Europe, you can see it in the Fst distances. But yeah, catalans are even closer.
 
The Uyghurs

Another interesting population for genetic studies are the Uyghurs of North-West China. They can provide essential evidence regarding the origin of the Indo-Europeans. Archaeology has confirmed that ethnic northern Europeans migrated from the Pontic-Caspian steppe to the Tamil Basin roughly 4000 years ago, at the time of the Indo-European migrations. The Tocharian language was spoken in the region in ancient times and is undeniably Indo-European.

Ancient Y-DNA and mtDNA studies also confirmed the presence of typically Indo-European haplogroups (Y-DNA R1a1a and mtDNA H and K).

Modern Uyghurs have high frequencies of G, J, R1a and R1b, as well as typically Russian or Caucasian mtDNA (H, T, U2, U3, U4, X2).

Based on Yali Xue et al. the Uyghurs would have 18.5% of R1a, 17% of R1b (and/or R2) and 13% of G (and/or F or I), 11.5% of J and 3% of E. There is unfortunately no detailed studies on the subclades of G and R1b found in Uyghurstan.

The Dodecad admixture found 21.8% of West Asian DNA and 15.6% of North European, which would confirm a Pontic Steppe and Caucasian origin. There was only 0.7% of South European and 0.6% of Southwest Asian. The 22% West Asian component would correspond to the 24.5% of haplogroups G and J, while the 16% of European can be identified with the 35.5% of R1a and R1b. There is a good chance that some R1a already possessed some Mongoloid autosomal admixture from Siberia or Central Asia before reaching Xinjiang. If not, the higher percentage of haplogroup R compared to European autosomal genes is likely attributed to the propensity of this type of Y-chromosome to produce more male offspring - a phenomenon also likely to have happened in Europe and South Asia.
 
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But how can this West Asian component be related to Hg's G1, G2 and J2 when Iberians have less West Asian than Germans or White Utahns ??

It is not really the case. Dienekes managed to split the West Asian component in two yesterday. Northern Europeans have mostly the new Dagestan component (North Caucasus, also found in India and surely related to the Indo-Europeans), while southern European have the real West Asian component (the one that peaks in Assyria and diminishes linearly on an east-west axis from there).

Spaniards have 10% of (Neolithic) West Asian and 4.4% of (Indo-European) Dagestan admixture. The Portuguese have 12.7% of West Asian and 3.3% of Dagestan.

In comparison, Germans have 5% of West Asian and 9.1% of Dagestan, which is the reverse proportion of Spaniards. Scandinavians have 10.2% of Dagestan but only 0.5% of West Asian.

It is not surprising to find 5% of West Asian in the Germans since West Asians were the people who spread agriculture and herding to Europe. Germany was the western extremity of the Neolithic LBK culture. A recent ancient DNA study found haplogroup F and G2a among LBK samples from Germany. This is clear evidence that some Caucasian farmers migrated all the way to Germany. But of course the Indo-Europeans came later (Bronze Age) and reduced the proportion of Neolithic farmers to a margin of the population. Germanic migration in the Iron Age further diluted their genetic presence.

The average percentage of haplogroup G in Germany is exactly 5%, but most of it is actually the Indo-European G2a3b1a matching the Dagestan component. There is also 4.5% of J2, which combined with approximately 0.5% of G(xG2a3b1a) matches perfectly the West Asian admixture.

Well, things are not as clear cut as that. It is entirely possible that the Indo-Europeans from the North Caucasus also carried some J2. This would explain why J2 is found among Indian Brahmins alongside R1a and G, and among the Uyghurs, alongside R1a, R1b and G. It would also explain why the Dutch have so much J2 (6%, more than the Belgians, Germans or Spaniards), and even the Danes have a good 3%, despite lying outside the LBK culture. It could all be Neolithic, but we can't rule out yet that the Germanic branch of the Indo-Europeans brought some of it.
 

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