Mitochondrial Haplogroups (mtDNA) among Albanians

Mitochondrial Haplogroups (mtDNA) among Albanians

Alban / June 8, 2023




Mitochondrial DNA (mtDNA) haplogroups represent direct matrilineal ancestry. They are inherited both by males and females, but only females pass them on to their descendants. As such, just as Y-DNA haplogroups are directly transmitted from male progenitor to male descendant, so are mtDNA haplogroups directly transmitted from female progenitor to female descendant.

Note: We thank the member of the project A.K. for contributing to the writing of this article.

mtDNA haplogroup H

H is carried by about 49% of Albanians today. Haplogroups under H in Europe have very high diversity and have spread in different eras with different groups. H120, H55-a, H15b3, H7, H12 are H haplogorups with higher frequencies among Albanians. H12 in particular is carried by 8% of Albanians, while it is rare outside Albanian-inhabited regions and their surroundings. Jankovska-Ajanovksa et al (2014) reported that 8.8% of Albanians in North Macedonia carry H12, followed by Turks of Macedonia (3.3%), Orthodox Macedonians (3%) and (1.3%) among northern Greeks.

H12a, the mtDNA subclade with the highest frequency among Albanians, is found in all Albanian regions, but until now it is more common in eastern areas, most notably in Librazhd, Korçë, and the western part of N.Macedonia.
H55b, the second most frequent H subclade, is more common in the North. It has been found in families from Gjakovë, Malësi, Kukës, Dibër, Krujë, and further South in Gramsh and Berat.

mtDNA haplogroup U

U (xK) is carried by ~12.6% of Albanians. Haplogroup U has been detected in Europe since at least the early Mesolithic era. The vast majority of Mesolithic Europeans carried haplogroup U subclades. The divergence of these haplogroups in Europe is such that different clades expanded or contracted geographically with many different populations, including the Indo-Europeans, among whom haplogroup U subclades have been found in high frequency. U5 and U4, which include over half of Albanians have been identified in numerous samples of the ancient Balkans.

mtDNA haplogroup J

J is carried by ~10.4% of Albanians. This result is in line with data from Europe, where J, in particular J1, is carried by ~10% of the population. J1 represents ~80% of J in Europe and Albanians are concentrated mostly in two specific subclades of J1: J1c-a1b and J1c2e. J expanded in Europe with movements of Neolithic Farmers via the Balkans, where J1c has been detected in samples since the Neolithic era. Kristjansson et al. (2022) report that “based on phylogenetic dating, subhaplogroup J1c has its early roots in the Mediterranean and Western Balkans”.

J1c2e, the most common of the J subclades, is found everywhere among Albanians from North to South, but the highest density by far is in the area of Labëri, especially Kurvelesh, Tepelenë and nearby Mallakastër. This lineage may have participated in the formation of Labëri as a region in the late High and/or Middle Ages, as we can observe several Y-DNA lineages did around 600-900 years ago.

mtDNA haplogroup W

W is carried by ~4.8% of Albanians who largely are under W1c3. Maternal clade W1 first spread with Neolithic Farmer populations in Europe via the Balkans. During the same period, it spread in the Pontic-Caspian steppe via the Caucasus region and then re-expanded in Europe with Indo-European migrations. Jankovska-Ajanovksa et al (2014) reported that ~6% of Albanians from North Macedonia carry W.

mtDNA haplogroup K

K is carried by ~3.7% of Albanians. In Europe, K increases with the advent of the Neolithic Farmer diffusion after 9000ybp and is lacking in samples from the previous Mesolithic era. K was carried by Neolithic Farmers via the Balkans to the rest of Europe since the early Neolithic. This haplogroup has been found in all areas of the ancient Balkans including men from Bronze Age Dalmatia and Iron Age Dardania (near Shkup).

mtDNA haplogroup N1

N1 is carried by ~3.8% of Albanians and they are mostly distributed in N1a1a2. N1a is carried by less than 1% of the population in most of Europe. It spread in Europe with the first Neolithic Farmers ca. 9000ybp via the Balkans. The oldest sample which has been tested from Albania (I15705), 8000ybp carries N1a1a1, a parallel line to N1a1a2.

N1b1a-b1 is found in close to 2% of Albanians. Until now it is more concentrated in the northern part of Toskëri (from Lushnje to Devoll).
mtDNA haplogroup T1
T1 is carried by ~3.7% of Albanians, with considerable concentration under T1a1, while T2 by ~0.8%. It diffused in Europe with the Neolithic Farmer movements and has been present in the Balkans since this era. Subclades both under T1 and T2 have been found in Iron Age Albania.

mtDNA haplogroup R0a’b

R0a’b is found in ~2.6% of Albanians today. This haplogroup includes a large number of early subclades, each one may have had a different migratory path. It has been found in many ancient remains including several from Neolithic Levant, one from the Yamnaya culture, others from Bronze Age Italy, etc. The Albanian results, until now, point to dispersals from the Levant, but some subclades may have expanded since the Neolithic, while others may have travelled during subsequent eras, such as the Roman period.

mtDNA haplogroup X

X is carried by ~2.2% of Albanians and they are largely distributed under X2m>X2m1a. X in general is carried by ~2% of the population of Europe. X2 spread in Europe with Neolithic Farmer populations via the Balkans and has been found in many sites of the ancient Balkans, while X2m under subclade X2m3 has been found in Bronze Age Croatia.

Sources

Kristjansson, D., Schurr, T. G., Bohlin, J., & Jugessur, A. (2023). Phylogeographic history of mitochondrial haplogroup J in Scandinavia. American Journal of Biological Anthropology, 180( 2), 298– 315. https://doi.org/10.1002/ajpa.24666

Sanni Översti , Jukka U Palo, Variation in the Substitution Rates among the Human Mitochondrial Haplogroup U Sublineages, Genome Biology and Evolution, Volume 14, Issue 7, July 2022, evac097, https://doi.org/10.1093/gbe/evac097

Jankova-Ajanovska R, Zimmermann B, Huber G, Röck AW, Bodner M, Jakovski Z, Janeska B, Duma A, Parson W. Mitochondrial DNA control region analysis of three ethnic groups in the Republic of Macedonia. Forensic Sci Int Genet. 2014 Nov;13:1-2. doi: 10.1016/j.fsigen.2014.06.013. Epub 2014 Jul 2. PMID: 25051224; PMCID: PMC4234079. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234079/

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