Scottish Genetics: Abstracts and Summaries

by Kevin Alan Brook

Family Tree DNA - Genetic testing service
Family Tree DNA: Genetic Testing Service
DNA testing will show your connections with other families and ethnic groups. The database includes many peoples from throughout Europe and the rest of the world including Scots, Irish, English, and members of many other ethnic groups. If you have Scottish heritage, you are eligible to join a number of relevant projects at Family Tree DNA, including the "Scottish Y-DNA Project", the "Scottish mtDNA Project", and Alasdair Macdonald's "Your Scottish Ancestry" and "Flemish in Scotland" projects. "Your Scottish Ancestry" is the most comprehensive project since it include Y-DNA, mtDNA, and autosomal DNA.

The Scots, a people of northwestern Europe inhabiting the semi-autonomous British country of Scotland, descend from a combination of two Celtic-speaking peoples: the Picts and the Gaels, along with later arrivals like Cumbrians (another Celtic-speaking group), Anglo-Saxons, Norse, French, and people from the Low Countries (including the Flemish from Flanders). All of these groups have left their mark on Scottish genetics.

Contrary to amateurish speculations and misinterpretations of genetic data, Scots do not descend from the Israelites in any amount.

R1b-M269, which originated in western Europe, is an important Y-DNA haplogroup found among Scottish men who participate in Family Tree DNA's "Scottish Y-DNA Project". Other members of that project who have unbroken Scottish patrilineal ancestry carry other Y-DNA haplogroups, including E-M2, E1b1b1-M35, E1b1b1a1b-V13, G-M201, I-M170, I1d-L22, I1d-P109, I1-M253, I2a-L160, I2a-M423, I2a-P37.2, and J2-M172, among others.

Members of Family Tree DNA's "Scottish mtDNA Project" whose matrilines are Scottish carry a wide variety of mtDNA haplogroups, including H, H1, H1a1, H1b, H1e2c, H1g1, H1j4, H1j7, H1m, H1q, H2a1, H3k, H3k1a, H3y, H3z, H4a1a1, H4a1a1a, H4a1a4b, H7a1b, H7a1c, H11a, H13a1a, H13a2b2a, H13b1b, H16, H16a, H49a, H86, H87, HV0-T195C!, HV16, I, J, J2b1b1, J2b1g, K, K1a4a1b2, K1b1a1c1, K1b2a, K1b2b, K1c2, K2a6, K2a7, K2b1a1a, T1a1, T2, T2a1a, T2a1b1a, T2b, U4, U4a, U4a1b1, U4b1b1, U4b1b1a, U5a2a1, U5a2b, U5a2b3, U5a2c3a, V, V2, V10a, V15a, V16, W3a1, W5, W5a2b, X, X2b11, X2b4, X2b4a, X2b5, X2b8, and X2i-A225G!, among others.

About 13 percent of Scots have red hair, and 40 percent of Scots carry at least one red hair mutation. Their red hair is determined by allele settings on their melanocortin 1 receptor (MC1R) gene in combination with 8 additional genes that determine whether the MC1R gene is turned on, according to "Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability" by M. D. Morgan, E. Pairo-Castineira, et al. in Nature Communications 9:1 (December 10, 2018): article number 5271.

Major studies of Scots

Agnar Helgason, Eileen Hickey, Sara Goodacre, Vidar Bosnes, Kári Stefánsson, Ryk Ward, and Bryan Sykes. "mtDNA and the Islands of the North Atlantic: Estimating the Proportions of Norse and Gaelic Ancestry." American Journal of Human Genetics 68:3 (March 2001): pages 723-737. First published online on February 1, 2001.
      This study of mitochondrial DNA compares mainland Scots with Scottish islanders (including Western Islands and the Isle of Skye, plus Orcadians from the Orkney Islands), Icelanders, Norwegians, and many other European ethnicities. Figure 5 shows Scots clustering close to the English and the Welsh. "Table 3: Haplogroup and Subcluster Frequencies for European Populations" indicates that 891 people from mainland Scotland had their mtDNA tested for this study and their mtDNA haplogroup frequencies were as follows:
0.11% in B,
38.38% in H (by far their most prevalent haplogroup),
3.03% in H1,
0.56% in H3,
1.23% in H4,
0.11% in H5,
2.36% in H8,
4.38% in I,
8.64% in J,
0.56% in J1,
0.45% in J1a,
0.11% in J1b,
3.48% in J1b1,
1.12% in J2,
3.70% in K,
0.79% in K1,
1.01% in K2,
0.56% in K2a,
0.56% in K2b,
7.63% in T,
2.24% in T1,
0.22% in T2,
0.79% in U2,
1.23% in U3,
2.47% in U4,
1.12% in U5,
5.05% in U5a,
1.01% in U5b,
0.11% in U7,
4.26% in V,
0.90% in W,
1.68% in X,
and 0.11% in another, unspecified haplogroup. Excerpts from the study:

"The estimate of Scandinavian ancestry ranges from 11.5% in the Western Isles [of Scotland] [...] Of the Scottish populations, Orkney evidently has the closest matrilineal links with Scandinavia. The Western Isles, the Isle of Skye, and the coastal population of northwest Scotland all exhibit similarly low levels of Scandinavian mtDNA ancestry."

Stephen Leslie, Bruce Winney, Garrett Hellenthal, Dan Davison, Abdelhamid Boumertit, Tammy Day, Katarzyna Hutnik, Ellen C. Royrvik, Barry Cunliffe, Wellcome Trust Case Control Consortium 2, International Multiple Sclerosis Genetics Consortium, Daniel J. Lawson, Daniel Falush, Colin Freeman, Matti Pirinen, Simon Myers, Mark Robinson, Peter Donnelly, and Walter Bodmer. "The fine-scale genetic structure of the British population." Nature 519 (March 19, 2015): pages 309-314. First published online on March 18, 2015.
      This study states "We use haplotype-based statistical methods to analyse genome-wide single nucleotide polymorphism (SNP) data from a carefully chosen geographically diverse sample of 2,039 individuals from the United Kingdom." They included Scots. They were compared with Europeans from outside of the United Kingdom. Several Scottish genetic clusters were identified. The map in "Figure 1: Clustering of the 2,039 UK individuals into 17 clusters based only on genetic data" shows distinct clusters differentiating between Northeastern Mainland Scotland versus Southern Mainland Scotland, for instance. Many Southern Scots belong to same genetic cluster as the Scots-Irish living in Northern Ireland. Genetic differences between mainland Scots and Orcadians from the Orkney Islands are noted.

Colm T. O'Dushlaine, Derek Morris, Valentina Moskvina, George Kirov, International Schizophrenia Consortium, Michael Gill, Aiden Corvin, James F. Wilson, and Gianpiero L. Cavalleri. "Population structure and genome-wide patterns of variation in Ireland and Britain." European Journal of Human Genetics 18 (2010): pages 1248-1254. First published online on June 23, 2010.
      The researchers studied the genetics of 3,654 including people from the United Kingdom (including Aberdeen, Scotland), Ireland, Sweden, Portugal, Bulgaria, and the American state of Utah (whose people are largely of English descent). Haplotype diversity was found to be lower in Scotland and Ireland than in southern Europe. The article notes that Scottish people are "intermediate between the Irish and English cohorts" in principal component analysis.

Valentina Moskvina, Michael Smith, Dobril Ivanov, Douglas Blackwood, David StClair, Christina Hultman, Draga Toncheva, Michael Gill, Aiden Corvin, Colm O'Dushlaine, Derek W. Morris, Naomi R. Wray, Patrick Sullivan, Carlos Pato, Michele T. Pato, Pamela Sklar, Shaun Purcell, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, George Kirov, and the International Schizophrenia Consortium. "Genetic Differences between Five European Populations." Human Heredity 70:2 (July 2010): pages 141-149.
      The researchers tested Scottish, Irish, Swedish, Bulgarian, and Portuguese people to study the differences in their SNP allele frequencies, based on 40,593 SNPs. Not surprisingly, Scottish and Irish people were found to be relatively closely related because the differences between their SNPs were the lowest found between any two peoples in the study.

Jonas Mengel-From, Terence H. Wong, Niels Morling, Jonathan L. Rees, and Ian J. Jackson. "Genetic determinants of hair and eye colours in the Scottish and Danish populations." BMC Genetics 10:88 (December 30, 2009).
      Includes data from 133 people from Edinburgh, Scotland.

Excerpts from the Results:

"We assayed the hair of a population of individuals of Scottish origin using tristimulus colorimetry, in order to produce a quantitative measure of hair colour. Cluster analysis of this data defined two groups, with overlapping borders, which corresponded to visually assessed dark versus red/light hair colour. [...] DNA from the Scottish group was genotyped at SNPs in 33 candidate genes, using 384 SNPs identified by HapMap as representatives of each gene. [...] MC1R variation correlated, as expected, with the red dimension of colorimetric hair colour in Scots. [...] A previously unreported association with the HPS3 gene was seen in the Scottish population. However, although this replicated in the smaller cohort of the Danish population, no association was seen when the whole study population was analysed."

Excerpts from the body text:

"In the Scottish population, the three SNPs, rs1492354 (p = 0.0009), rs1907702 (p = 0.018) and rs10777129 (p = 0.007) located in intron 1 of the KITLG gene were significantly associated with hair colour (Table 3)."

Nicholas Wade. "English, Irish, Scots: They're All One, Genes Suggest." The New York Times (March 5, 2007). Excerpts:

"[...] Stephen Oppenheimer, a medical geneticist at the University of Oxford, says [...] the principal ancestors of today's British and Irish populations arrived from Spain about 16,000 years ago, speaking a language related to Basque. [...] Agriculture may have been introduced by people speaking Celtic, in Dr. Oppenheimer's view. Although the Celtic immigrants may have been few in number, they spread their farming techniques and their language throughout Ireland and the western coast of Britain. [...] In all, about three-quarters of the ancestors of today's British and Irish populations arrived between 15,000 and 7,500 years ago, when rising sea levels finally divided Britain and Ireland from the Continent and from one another, Dr. Oppenheimer calculates in a new book, 'The Origins of the British: A Genetic Detective Story' (Carroll & Graf, 2006). As for subsequent invaders, Ireland received the fewest; the invaders' DNA makes up about 12 percent of the Irish gene pool, Dr. Oppenheimer estimates, but it accounts for 20 percent of the gene pool in Wales, 30 percent in Scotland, and about one-third in eastern and southern England. [...]"

Edmund Gilbert, Seamus O'Reilly, Michael Merrigan, Darren McGettigan, Veronique Vitart, Peter K. Joshi, David W. Clark, Harry Campbell, Caroline Hayward, Susan M. Ring, Jean Golding, Stephanie Goodfellow, Pau Navarro, Shona M. Kerr, Carmen Amador, Archie Campbell, Chris S. Haley, David J. Porteous, Gianpiero L. Cavalleri, and James F. Wilson. "The genetic landscape of Scotland and the Isles." Proceedings of the National Academy of Sciences (PNAS). First published online on September 3, 2019.
      This autosomal DNA study examined 2,544 Irish and British people, including ethnic Scots from mainland Scotland, Scots from the Hebrides (islands in northwestern Scotland), and people from the Shetland Islands, and found evidence for the existence of fine-scaled genetic clusters based on geography. For instance, the Abstract notes differences between northeastern mainland Scots and southwestern mainland Scots, and furthermore that "Many genetic boundaries are consistent with Dark Age kingdoms of Gaels, Picts, Britons, and Norse. Populations in the Hebrides, the Highlands, Argyll, Donegal, and the Isle of Man show characteristics of isolation." As expected, Shetlanders have more Norwegian ancestry (about 18%) than do Scots of the Hebrides (who have about 7% of it) and Scots who live in northern Scotland and in Argyll in southwestern Scotland (who both have roughly 4% of it) and in other parts of mainland Scotland. Also as expected, the majority of Scots' ancestry is "Celtic" similar to the dominant element in Irish and Welsh people. The Abstract mentions a pattern that, compared to other Scots, "The eastern Scottish clusters Aberdeenshire and Tayside-Fife present more English-like ancestry [including Anglo-Saxon DNA]."

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