In Europe, mtDNA K is particularly common in Northwest Europe, with peaks observed in Belgium (14%), Ireland (12%), the Netherlands (10%), Iceland (10%), Denmark (9%) and France (8.5%). In the Eastern Mediterranean and the Middle East, haplogroup K reaches high frequencies in Cyprus (20%), among the Druzes of Lebanon (13%), in Georgia (12%), as well as among the Avars (13%) and the Dargins (12%) of Daghestan.
Distribution of mtDNA haplogroup K in Europe, North Africa and the Middle East
Origins & History
Haplogroup K originated in West Asia as a subclade of haplogroup U8b some time between 20,000 and 38,000 years ago.
Based on ancient DNA tests, haplogroup K appears to have been absent among the Western Hunter-Gatherers (WHG) who occupied western and central Europe before the Neolithic period. The K1a, K1b and K2a subclades were found among Early Neolithic farmers (ENF) from the Near East, and subsequently among Early European farmers (EEF).
In contrast, the K1c, K2b and K2c subclades never been found among Neolithic farmers to date and do not appear to have Near Eastern roots. They are most common in eastern Europe today, where have originated during the Mesolithic, among Eastern Hunter-Gatherers (EHG), and would have spread with Y-haplogroup R1a during the Bronze Age to Germanic countries and Central Asia, where they are also found at relatively high frequencies. K1c was found in two Mesolithic Greek samples (c. 7550 BCE and 7000 BCE) from Thessaly tested by Hofmanová et al. (2015).
The K3 subclade is pretty much restricted to the Caucasus and was already present in Mesolithic Georgia (see Gonzalez-Fortes et al. (2015)).
The Near Eastern branches
It is now certain that haplogroup K was a major maternal lineage of Neolithic farmers and herders before they entered Europe.
Fernández et al. (2014) tested the remains of 15 individuals from the Pre-Pottery Neolithic B site of Tell Halula (6800-6000 BCE) and Tell Ramad (6000-5750 BCE) in Syria, and identified six members of haplogroup K (40%). Lazaridis et al. (2016) tested Neolithic farmers from Jordan and western Iran, while Kılınç et al. 2016 analysed genomes from Neolithic central Anatolia. Both of them found numerous K1a samples, belonging notably to the subclades K1a4b (in Jordan) and K1a12a (in Turkey and Iran).
Mathieson et al. (2015) tested the genomes of 26 Early Neolithic farmers from the Barcın site (6500-6200 BCE) in north-western Anatolia, and among them were 8 members of haplogroup K (31%), including K1a1, K1a2 (2x), K1a3a, K1a4 (2x), K1a6, and K1b1b1. Hofmanová et al. (2015) tested five more Neolithic farmers from the same period, two from the same site in Turkey and three from Greece, and one K1a2 sample turned up in each country.
Haplogroup K was found in approximately 15% of the hundreds of Neolithic samples from Europe, a frequency twice higher than among modern Europeans. The frequency decreased over time as farmers mingled with aboriginal European people descended from Mesolithic fishermen, hunters and gatherers.
K1a is thought to have arisen around 19,000 to 22,000 years ago. It is is by far the most common and diverse subclade in Europe today, and was already by far the most common subclade among Neolithic farmers. The vast majority of Neolithic samples from Central and Western Europe were K1a, including subclades such as K1a1b1 (Spain), K1a2a (Catalonia and Portugal), K1a3a3 (Hungary), K1a4a1 (Catalonia and Germany), and K1a5 (Sweden). K1a is also very common in the Levant today, notably among the Druzes, who are believed to be the population most representative of the pre-Arabic expansion in the Levant, and possibly the closest to the original Neolithic farmers.The Druzes, who have 13% of haplogroup K, possess mostly K1a subclades, including K1a4b, K1a6 and K1a12. K1a4 is found in the Levant, Anatolia, Georgia, and all over Europe. K1a4a1 is the most common K subclade in Western Europe, Germany and Scandinavia today. K1a4 was probably one of the main K1a subclades among Neolithic farmers.
Ashkenazi Jews are the ethnic groups with the highest percentage of K lineages today : 32% in average, and up to 50% among Ashkenazi Jews from Germany. There are only three typically Jewish subclades of K: K1a1b1a, K1a9, and K2a2a. There are other subclades, like K1a7, K1a8 and K2c, which are also found among people of Jewish descent, but they are very rare.
Apart from the K1a, K1b and K2a subclades, the original Neolithic founder haplogroups from the Fertile Crescent would have included mtDNA N1a, H5, J2b1a, T2, U3, W1 and X2. Their main paternal lineage was Y-haplogroup G2a (about half of all lineages), although several minor lineages were also found in Early Neolithic Anatolian samples, such as C1a2, H2 and J2a.
The Indo-European branches
The dominant paternal lineage in Western Europe today is R1b, which is thought to have arrived with the Indo-European speakers (Proto-Italo-Celtic and Proto-Germanic branches) during the Bronze Age (=> see R1b history). Y-haplogroup R1b is thought to have spread with cattle herders from the northern Near East and Caucasus region first to the Pontic Steppe, then to Europe. Its Near Eastern and Caucasian origin means that R1b populations almost certainly carried substantial percentages of K maternal lineages. Haplogroup K has been found in all Asian populations where R1b is present, including the Volga-Ural region, the Altai, Mongolia, Xinjiang, and most of Central Asia.
One way to determine which subclades of K were diffused by the Indo-Europeans is to look for subclades that are consistently found in all populations with high levels of haplogroup R1b in Europe, around the Caucasus, in the Near East and in Central Asia.
K1a1a is found all around Central Asia, as well as central and western Europe, and could be linked to the diffusion of R1b.
K1c is also common in Central Asia. K1c1 is particularly common in Slavic countries, while K1c2 is more common in Germanic countries. Both could be associated with R1a. The presence of K1c2 has been confirmed in Tajikistan, a country that has 30% of R1a and only 3% of R1b.
K2b was found by Keyser et al. (2009) in Bronze Age samples related to the Andronovo culture from the Krasnoyarsk area in southern Siberia. The male samples tested from the same site belonged R1a. Nowadays K2b is found mostly in central and north-eastern Europe (R1a countries) and can therefore safely be linked to the diffusion of the R1a branch of the Indo-Europeans.
Data for deep subclades outside Europe is still sparse, but other potential candidates include K1a3 and K2a6. Note that K1a4 was also found among Neolithic farmers in Germany, but since most K1a subclades originated in the Near East it should not be surprising to find overlaps between Neolithic farmers and Bronze Age Indo-European invaders. It is also the most common subclade in Northwest Europe.
Subclades
K1
K1a
K1a1 : found in central and south-eastern Europe / found in Neolithic Alsace, Wales and Italy and in EBA Moldova (Cucuteni-Trypillia culture)
K1a1a : found in central, northern and western Europe
K1a1b : found in Turkey, Bulgaria, Russia, Estonia, Italy and Britain
K1a1b1 : found in western Europe / found in Late Neolithic Orkney and Spain (Bell Beaker)
K1a1b1a : major Ashkenazi Jewish subclade
K1a1b1b : found in Scandinavia, the Benelux, Germany, Switzerland, France and Britain
K1a1b1c : found in north-western Europe, France and Sweden
K1a1b1d : found in Britain
K1a1b1e : found in western Europe
K1a1b1f : found in north-western Europe, Czechia and Poland
K1a1b1g : found in Greece / found in Late Neolithic England (Bell Beaker)
K1a1b2
K1a1b2a : found in north-western Europe
K1a1b2b : found in Britain, Germany and Sweden / found in the Corded Ware culture in Poland
K1a1c : found in north-western Europe
K1a2: found in northern Europe and Iran (Qashqai) / found in Early Neolitic Anatolia, Greece and Italy, and in Middle Neolithic Hungary and France
K1a2a : found in north-western Europe / found in Neolithic Alsace (Michelsberg culture) and Late Neolithic Spain & Italy (Bell Beaker)
K1a2b : found in France, Germany and Poland
K1a2c : found in northern Europe / found in Neolithic Alsace (Michelsberg culture), in Bell Beaker Czechia, in Bronze Age Poland and LBA Scotland
K1a3 : found in Poland and Norway / found in Early Neolitic Anatolia and Italy
K1a3a : found in Russia, Bulgaria, Germany, Norway, Italy, and western Europe / found in Middle Neolithic France, Late Neolithic Britain, in Bell Beaker Czechia, and in EBA Scotland
K1a3a1 : found in Russia, Slovakia, Germany, France, the Netherlands, and Norway
K1a3a1a : found in Morocco
K1a3a1b : found Britain and Ireland
K1a4 : found in Egypt, Greece, Bulgaria, Czechia, Poland, Germany, Switzerland, Britain, Ireland, Portugal and Russia / found in Early Neolitic Anatolia, Neolithic France and Orkney, and in Bronze Age Serbia
K1a4a : found in central and south-eastern Europe
K1a4a1 : found in western, central, northern and eastern Europe, as well as in Ethiopia (Hamar) / found in Neolithic Scotland, France and Italy, in the Corded Ware culture in Poland, and in Bell Beaker England and Portugal
K1a4a1a : found in Britain, Ireland, Scandinavia, Finland, the Benelux, Germany, Hungary, and Bulgaria
K1a4a1a1 : found in Ireland
K1a4a1a2 : found in Poland, Hungary, Italy, Germany, Denmark, Britain and Ireland
K1a4a1a2a : found in Ukraine, Croatia, Italy, Germany, Scandinavia, Finland, Britain and Ireland
K1a4a1a2b : found in Germany, Scandinavia, Finland, Britain and Ireland
K1a4a1a3 : found in Germany, Britain and Ireland
K1a4a1b : found in Scandinavia, Iceland, Britain and Ireland
K1a4a1b1 : found in Britain and Ireland
K1a4a1b2 : found in Germany, Scandinavia, Finland and Britain
K1a4a1c : found in Germany, Britain and Finland
K1a4a1d : found in Germany, Britain and Ireland
K1a4a1e : found in Germany, Scandinavia, Britain and Ireland
K1a4a1f : found in Poland, Germany, Britain and Finland
K1a4a1g : found in Italy, Germany, Netherlands and Britain
K1a4a1h : found in Germany and Sweden
K1a4a1i : found in Denmark, England and France
K1a4b : found in the Levant (Druzes), Ethiopia, Turkey, Italy, Czechia and England / found in Neolithic Jordan, in Chalcolithic Poland (Corded Ware culture), and in Bell Beaker Germany
K1a4c : found in Iran, Anatolia, Greece, Italy, Poland and Britain
K1a4d : found in Germany, Austria, Switzerland, France, the Low Countries, Scandinavia and Ukraine
K1a4e : found in England
K1a4f : found in Georgia, northern Anatolia, Bulgaria, Italy, Malta, and Germany
K1a4g : found in Germany, Switzerland, Norway and Ireland
K1a4h
K1a4i : found in Sweden
K1a4j : found in Kazakhstan
K1a5 : found in the Levant, Kazakhstan, Italy, Germany and England / found in Hellenistic Lebanon
K1a6 : found in the Levant (Druzes) / found in Early Neolitic Anatolia
K1a7 : found among Ashkenazi Jews
K1a8 : found in Germany, Iraq and among Ashkenazi Jews
K1a8a : found among Ashkenazi Jews
K1a8b : found in Tunisia and Iran
K1a9 : major Ashkenazi Jewish subclade
K1a10 : found in the British Isles
K1a10a : found in the British Isles, Germany and Scandinavia
K1a11 : found in Britain, Ireland, the Netherlands, Germany, Scandinavia, Ukraine and Russia
K1a11a : found in Germany, Switzerland and France
K1a11b : found in Belgium, Britain and Ireland
K1a12 : found in Turkey, Poland, Germany, Italy, Portugal and Ireland / found in Neolithic Alsace (LBK)
K1a12a : found in the Levant (Jews, Druzes), Turkey and Ethiopia / found in Neolithic Turkey and Iran
K1a13 : found in Sweden, Germany, France and Spain
K1a13a : found in Ireland, Sweden, Croatia and Spain
K1a14 : found in the Azores
K1a15 : found in Britain and Ireland
K1a16 : found in Britain and Ireland
K1a17 : found in the Near East (Turkey, Levant, Egypt) and Italy
K1a17a
K1a18 : found in the Near East (Levant, Mesopotamia) and Chechenya / found in MLBA Israel (Tell Megiddo)
K1a19 : found in Iran, Armenia, Italy, Germany and Poland
K1a20 : found in Turkey and Georgia
K1a21 : found in Germany and Italy
K1a23 : found in the Levant
K1a24 : found in north-western Europe, Germany and Russia
K1a24a : found in Ireland / found in Bell Beaker Spain
K1a25
K1a26 : found in the British Isles, France, Germany and Sweden / found in Bell Beaker England
K1a27 : found in the Levant, Turkey and Russia
K1b
K1b1 : found throughout Europe / found in Neolithic France
K1b1a : found throughout Europe / found in Neolithic France and Orkney, in Bell Beaker England and Portugal, in Bronze Age Russia (Fatyanovo culture), in Bronze Age France, and in the Unetice culture
K1b1b : found in Greece, Germany and Spain / found in Early Neolitic Anatolia
K1b1c : found in Denmark, Germany, Serbia, Russia and Iran (Kurds, Qashqai)
K1b2
K1b2a : found in central and northern Europe / found in Bell Beaker Germany and in Bronze Age Poland
K1b2b : found in western continental Europe
K1c : found in Mesolithic Greece
K1c1: found in Poland, Hungary, Czechia, Slovakia, Austria, Germany, France, the Benelux, Britain, Ireland, Denmark, Finland, Ukraine, Russia and Turkey / found in in Bell Beaker Germany and France and in Bronze Age Bulgaria, Poland and Russia (Fatyanovo culture)
K1c1a : found in Italy and England
K1c1b : found in northern Europe
K1c1c : found in Finland and European Russia
K1c1d : found in Germany and Britain
K1c1e : found in Germany, the Carpathians, Belarus, and Russia
K1c1f : found in northern central and eastern Europe
K1c2 : found in western and northern Europe and in the Maghreb
K1c2a : found in Ireland and Norway
K1d : found in northern Europe / found in Bell Beaker Netherlands
K1e : found in north-western Europe
K1f : found in Ötzi (the Tyrolean Iceman)
K2
K2a : found in Late Neolithic England (Bell Beaker) and in Bronze Age Poland
K2a1 : found in Britain / found in EBA England
K2a2 : major Ashkenazi Jewish subclade
K2a3 : found in northern and eastern Europe
K2a4 : found in northern Europe
K2a5 : found in north-western Europe and Iran (Persians) / found in Bronze Age France and Russia (Fatyanovo culture)
K2a6 : found in the North Caucasus, central and north-western Europe
K2a7 : found in France and Britain
K2a8 : found in Spain and the Canaries
K2a9 : found in Neolithic Alsace
K2a10 : found in north-western Europe
K2b
K2b1 : found in central and northern Europe / found in Neolithic Alsace, in Bell Beaker Czechia, Germany and Switzerland, and in EBA Alsace
K2b2 : found in central and northern Europe
K2c : found among Ashkenazi Jews
K3 : found in Mesolithic Georgia and present-day Georgia
Associated medical conditions
Coskun et al. (2004) studied the mutations that suppress mitochondrial transcription and replication and reported that haplogroup K could be protective against Alzheimer's Disease (AD).
The A10398G mutation defining haplogroup K1 (a back mutation from macrohaplogroup N) has been associated with increased longevity (Nijiati et al. (2013)) and protection against PD (Ghezzi et al. (2005) and Clark et al. (2011)). This mutation is also found in the K2a11 subclades.
The common C150T mutation has been found at strikingly higher frequency among Chinese and Italian centenarians and may be advantageous for longevity and resistance to stress according to Chen et al. (2012). C150T defines haplogroups K1a11, K1a24, K1a30 and K3, but may also be found among other subclades.
Rollins et al. (2009) examined the association between brain pH and mtDNA alleles. The highest brain pH was found in members of haplogroups U and K. The A10398G polymorphism (defining hg I, J and K1) was found to be associated with an increased pH in cybrid cells. Higher pH confers protection against Parkinson's disease and psychiatric disorders such as schizophrenia, bipolar disorder, and major depressive disorder. Another study by the University of Manchester suggests that a lower brain acidity (i.e. higher pH) has a protective effect against strokes.
Research on intelligence point that people with higher IQ tend to have more alkaline brains. Higher pH is associated with better conductivity-transmission between neurons (source).
Hendrickson et al. (2008) studied the role played by mitochondrial function in AIDS progression in HIV-1 infected persons. They found that AIDS progression was slower for members of haplogroups H3, I, K, U, W and X.
A study on Finnish endurance athletes conducted by Niemi and Majamaa (2005) demonstrated that the frequencies of mtDNA haplogroups differed significantly between sprint and endurance athletes, and that none of the endurance athletes sampled belonged to haplogroup K or J2. A similar study by Maruszak et al. (2014) analysed the mtDNA of 395 elite Polish athletes (213 endurance athletes and 182 power athletes) and 413 sedentary controls and found that haplogroup K was also the most underrepresented among athletes (3%) compared to sedentary controls (6%).
Famous individuals
Ötzi the Iceman, Europe's oldest natural human mummy, dating from 5,300 years ago, had his full genome sequenced (the oldest European genome ever tested) and was found to belong to haplogroup K1f.
Mike Nichols (subclade K2a2a) is a German-born American television, stage and film director, writer, producer and comedian. He is one of a small group of people who have won an Emmy, Grammy, Oscar, and Tony Award. His haplogroup was revealved in Faces of America.
Craig Venter (subclade K1a3a) is an American biologist and entrepreneur. Running against the U.S. government-funded Human Genome Project, Venter founded his own private company, Celera Genomics, and used the method of shotgun sequencing to complete the first human genome (his own) in half the time and at a fraction of the cost of the Human Genome Project. He also created the first cell with a synthetic genome. Venter was listed on Time magazine's 2007 and 2008 Time 100's list of the most influential people in the world.
Meryl Streep (subclade K1b2b) is an American actress of theater, television, and film. She is widely regarded as one of the greatest film actresses of all time. Streep is one of the six actors to have won three or more competitive Academy Awards for acting. She has also received 29 Golden Globe nominations, winning eight—more nominations, and more competitive (non-honorary) wins than any other actor (male or female). Her work has also earned her two Screen Actors Guild Awards, a Cannes Film Festival award, five New York Film Critics Circle Awards, two BAFTA awards, two Australian Film Institute awards, five Grammy Award nominations, and five Drama Desk Award nominations, among several others. Her haplogroup was revealved in Faces of America.
Steven Pinker (subclade K2a2a) is a Canadian experimental psychologist, cognitive scientist, linguist, and popular science author. He is Johnstone Family Professor in the Department of Psychology at Harvard University, and is known for his advocacy of evolutionary psychology and the computational theory of mind.
Other famous members of haplogroup K
Stephen Colbert: an American political satirist, writer, comedian, television host, and actor. He is the host of Comedy Central's The Colbert Report, a satirical news show in which Colbert portrays a caricatured version of conservative political pundits. His haplogroup was revealved in Faces of America.
Katie Couric: an American television journalist, author and talk show host. She has been a television host on all Big Three television networks in the United States (ABC, CBS and NBC) as well as the global news anchor for Yahoo News.
Harry Connick Jr. (subclade K1a1b1a) : is an American singer, musician, and actor. He has sold over 28 million albums worldwide. Connick is ranked among the top 60 best-selling male artists in the United States by the Recording Industry Association of America.
Maggie Gyllenhaal and Jake Gyllenhaal (subclade K1a1b1a) : American actors and children of director Stephen Gyllenhaal and screenwriter Naomi Foner. Maggie's mtDNA was revealed by the PBS television series Finding Your Roots.