Sardinian Genetics: Abstracts and Summaries

by Kevin Alan Brook

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The Sardinians are called Sardos or Sardus in their own language and Sardi in Italian. They are native to the island of Sardinia which is located south of Corsica and west of mainland Italy in the Mediterranean Sea. Roman Catholicism is their most common religion. The Sardinian language is part of the Romance family.

Almost 50% of Sardinians belong to one of these two divisions of the mitochondrial DNA (mtDNA) haplogroup H: H1 and H3. Among Europeans, haplogroup H3 is most prevalent among the Sardinian, Galician, and Basque peoples. Other mtDNA haplogroups found among Sardinians include HV0, J1c, J2a1a1, J2b1a, M1a1b1a, T1a*, T2b, U1a1c3, U5b, and U6d1a (from northwestern Africa).

The most common Y chromosomal (Y-DNA) haplogroup among Sardinians is I2a1 (I-M26), which is also found among some Corsicans, Sicilians, and mainland Italians. A subdivision of I2a1 that's found among Sardinians is called I2a1b (I-L160). The Y-chromosomal haplogroup G2a2a2 (G-L91) is found in Sardinia as well as Corsica, Sicily, North Africa, and the Middle East. About 1% of Sardinians carry Sub-Saharan Y-DNA haplogroups, namely A1b1b2b and E1a1, whose frequencies among them are roughly equal.

Sardinians have some genetics in common with North Africans. The HLA (immune system) haplogroup (chain of serotypes) called A30-Cw5-B18 is found among 15-17 percent of Sardinians. A30-B18 is very common among Berber (Amazigh) people of North Africa and also found among many Sub-Saharan African populations.

Major studies of Sardinians

Anna Olivieri, Carlo Sidore, Alessandro Achilli, Andrea Angius, Cosimo Posth, Anja Furtwängler, Stefania Brandini, Marco Rosario Capodiferro, Francesca Gandini, Magdalena Zoledziewska, Maristella Pitzalis, Andrea Maschio, Fabio Busonero, Luca Lai, Robin Skeates, Maria Giuseppina Gradoli, Jessica Beckett, Michele Marongiu, Vittorio Mazzarello, Patrizia Marongiu, Salvatore Rubino, Teresa Rito, Vincent Macaulay, Ornella Semino, Maria Pala, Gonçalo R. Abecasis, David Schlessinger, Eduardo Conde-Sousa, Pedro Soares, Martin B. Richards, Francesco Cucca, and Antonio Torroni. "Mitogenome Diversity in Sardinians: a Genetic Window onto an Island's Past." Molecular Biology and Evolution (forthcoming in print). First published electronically on February 8, 2017.
      The mtDNA haplogroups of 3,491 modern Sardinians and 21 ancient samples from Sardinia were studied. 89 mitochondrial DNA (mtDNA) haplogroups representing 78.4 percent of the Sardinian subjects appear to have originated in Sardinia itself and could not be found outside of it. The researchers estimated that nearly all of these Sardinian-specific haplogroups originated "in the post-Nuragic, Nuragic and Neolithic-Copper Age periods." However, several Sardinian-specific haplogroups may have already been there earlier. In the February 13, 2017 news release "Looking at Sardinian DNA for genetic clues to an island's -- and Europe's -- past" from the publisher, Cucca is quoted as saying "Our analyses raise the possibility that several SSHs may have already been present on the island prior to the Neolithic." The release continues by suggesting "The most plausible candidates would include haplogroups K1a2d and U5b1i1, which together comprise almost 3 percent of modern Sardinians, and possibly others. Such a scenario would not only support archaeological evidence of a Mesolithic occupation of Sardinia, but could also suggest a dual ancestral origin of its first inhabitants. K1a2d is of Late Paleolithic Near Eastern ancestry, whereas U5b1i1 harbours deep ancestral roots in Paleolithic Western Europe."

Laura Morelli, M. G. Grosso, Giuseppe Vona, Laurent Varesi, A. Torroni, and Paolo Francalacci. "Frequency distribution of mitochondrial DNA haplogroups in Corsica and Sardinia." Human Biology 72:4 (August 2000): pages 585-595.
      The authors analyzed mitochondrial DNA (mtDNA) polymorphisms in people living in Corsica and Sardinia. 51 of the samples came from residents of Gallura in northern Sardinia while 45 came from residents of Barbagia in central Sardinia. The mtDNA haplogroup H (very common throughout Europe) was found in about 40% of the Gallurese Sardinians and about 65% of the Barbagian Sardinians. The rarer mtDNA haplogroup V (common among the Cantabrian and Basque peoples of northern Iberia and among Berbers and Sahrawi peoples of northwestern Africa) was found among the Barbagians but not among the Gallurese. The Sardinians were compared and contrasted with 56 samples from central Corsica. Excerpt from the Abstract:

"The sample from central Sardinia shows a remarkable discontinuity with those from the northern part of the island and from Corsica. Gallura and Corsica seem to have undergone a more recent peopling event, possibly related to the arrival of new mitochondrial variability from continental Italy, [...]"

Cristina Fraumene, Enrico Petretto, Andrea Angius, and Mario Pirastu. "Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis." Human Genetics 114 (2003): pages 1-10. Excerpts from the Abstract:

"[...] We analysed the mtDNA haplogroups and hypervariable segment I (HVS-I) sequences of 475 individuals from a geographically restricted and isolated area (Ogliastra) within Sardinia, comprehending 175 random samples from 20 out of 23 villages. The remaining 300 subjects were chosen from the other three villages, Talana, Urzulei and Perdasdefogu, by sampling all maternal lineages. A comparison with other European populations reveals that Ogliastra ranks among the most genetically homogenous population and that it has been small and isolated throughout its history. The lack of variation and the high genetic homogeneity indicate that an important founder event and a demographic expansion took place during the Neolithic (~ 7,700 years before present) in Ogliastra's mtDNA gene pool. [...]"

Daniela Contu, Laura Morelli, Federico Santoni, Jamie W. Foster, Paolo Francalacci, and Francesco Cucca. "Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans." PLOS ONE 3 (January 9, 2008): e1430.

G. Zei, Antonella Lisa, O. Fiorani, C. Magri, Lluís Quintana-Murci, Ornella Semino, and A. Silvana Santachiara-Benerecetti. "From surnames to the history of Y chromosomes: the Sardinian population as a paradigm." European Journal of Human Genetics 11 (October 2003): pages 802-807.

Paolo Francalacci, Laura Morelli, Peter A. Underhill, A. S. Lillie, G. Passarino, Antonella Useli, R. Madeddu, G. Paoli, S. Tofanelli, Carla Maria Calò, M. E. Ghiani, Laurent Varesi, Marc Memmi, Giuseppe Vona, A. A. Lin, P. Oefner, and Luigi Luca Cavalli-Sforza. "Peopling of Three Mediterranean Islands (Corsica, Sardinia, and Sicily) Inferred by Y-Chromosome Biallelic Variability." American Journal of Physical Anthropology 121:3 (August 2003): pages 270-279.
      Includes Y-DNA results from 78 Sardinian males and mtDNA results from 46 Sardinians.

• Table 2 lists the Sardinians' Y-DNA haplotypes as follows:
M26 in 34.6%,
M35 in 10.3%,
M89 in 5.1%,
M170 in 2.6%,
M172 in 5.1%,
M173 in 23.1%,
M201 in 14.1%,
and other haplotypes in 5.2%.
Excerpt from the Abstract:
"[...] Sardinia showed a haplotype ratio similar to that observed in Corsica, but with a remarkable difference in the presence of a lineage defined by marker M26, which approaches 35% in Sardinia but seems absent in Corsica. Although geographically adjacent, the data suggest different colonization histories and a minimal amount of recent gene flow between them. [...]"

• Table 1 lists the Sardinians' mtDNA haplogroups as follows:
H in 30 samples,
J in 1 samples,
K in 1 samples,
T in 4 samples,
U in 2 samples,
V in 4 samples,
and other haplogroups in 4 samples.

G. Passarino, Peter A. Underhill, Luigi Luca Cavalli-Sforza, Ornella Semino, G. Pes, C. Carru, L. Ferrucci, M. Bonafè, C. Franceschi, L. Deiana, G. Baggio, and G. De Benedictis. "Use of Y chromosome binary markers to study the high prevalence of males in Sardinian centenarians and the genetic structure of the Sardinian population." Human Heredity 52:3 (2001): pages 136-139.
      The Y chromosome genes of 156 Sardinians were examined. The results "indicate that the Sardinian population had two main founder populations that have evolved in isolation for at least the last 5,000 years."

Paolo Francalacci, Laura Morelli, Andrea Angius, Riccardo Berutti, Frederic Reinier, Rossano Atzeni, Rosella Pilu, Fabio Busonero, Andrea Maschio, Ilenia Zara, Daria Sanna, Antonella Useli, Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Manuela Oppo, Magdalena Zoledziewska, Maristella Pitzalis, Francesca Deidda, Eleonora Porcu, Fausto Poddie, Hyun Min Kang, Robert Lyons, Brendan Tarrier, Jennifer Bragg Gresham, Bingshan Li, Sergio Tofanelli, Santos Alonso, Mariano Dei, Sandra Lai, Antonella Mulas, Michael B. Whalen, Sergio Uzzau, Chris Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Carlo Sidore, and Francesco Cucca. "Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny." Science 341:6145 (August 2, 2013): pages 565-569.
      This Y-DNA study included 1204 Sardinian males. Among other findings, 0.5% of Sardinian males possess the Sub-Saharan African Y-DNA haplogroup A1b1b2b, and 0.5% of them possess another Sub-Saharan haplogroup, E1a1.

Alessio Boattini, Begoña Martinez-Cruz, Stefania Sarno, Christine Harmant, Antonella Useli, Paula Sanz, Daniele Yang-Yao, Jeremy Manry, Graziella Ciani, Donata Luiselli, Lluís Quintana-Murci, Davis Comas, Davide Pettener, and the Genographic Consortium. "Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata." PLoS ONE 8:5 (May 29, 2013): e65441.
      The authors studied the mtDNA and Y-DNA lines of nearly 900 people from Sardinia, Sicily, and the Italian Peninsula. Among other things, they found the Sub-Saharan Y-DNA haplogroup E1a in 1.2% of Sardinians.

Ignazio Stefano Piras, Antonella De Montis, Carla Maria Calò, Monica Marini, Manuela Atzori, Laura Corrias, Marco Sazzini, Alessio Boattini, Giuseppe Vona, and Licinio Contu. "Genome-wide scan with nearly 700,000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection." European Journal of Human Genetics 20 (2012): pages 1155-1161. First published online on April 25, 2012.
      Sardinians have been relatively genetically isolated from other Europeans. Excerpts from the Abstract:

"[...] Principal components and admixture analyses suggest a clustering of the examined samples in two significantly differentiated sub-populations (Ogliastra and Southern Sardinia), [...] 40 genomic regions were detected, with significant differences between Ogliastra and Southern Sardinia. [...]"

Giorgio Pistis, Ignazio Piras, Nicola Pirastu, Ivana Persico, Alessandro Sassu, Andrea Picciau, Dionigio Prodi, Cristina Fraumene, Evelina Mocci, Maria Teresa Manias, Rossano Atzeni, Massimiliano Cosso, Mario Pirastu, and Andrea Angius. "High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis." PLoS ONE 4:2 (February 27, 2009): e4654.
      Sardinians aren't a genetically homogeneous isolate as they have differences depending on which sub-region or village of Sardinia they come from. This autosomal DNA study focused on 7 villages in the Ogliastra area of central-eastern Sardinia (Talana, Urzulei, Baunei, Triei, Seui, Ussassai, and Loceri) which is known for its distinctive and endogamous village populations, and also studied the village of Seulo in nearby Barbagia. Excerpts from the Discussion:

"[...] The STRUCTURE population analysis confirms the presence of a distinct cluster for each village analyzed, except for Baunei and Triei (which in the past were part of a single municipality). [...]"

N. Cappello, S. Rendine, R. Griffo, G. E. Mameli, V. Succa, G. Vona, and A. Piazza. "Genetic analysis of Sardinia: I. Data on 12 polymorphisms in 21 linguistic domains." American Journal of Human Genetics 60 (1996): pages 125-141.

Pedro Moral, Meritxell Bao, Emili González, A. Lopez-Alomar, Laurent Varesi, Marc Memmi, and Giuseppe Vona. "Alu polymorphisms in Corsica and Sardinia: New evidence for the genetic position of Corsican population within Western Mediterranean." Antropologia Contemporanea 22 (1999): pages 77-86.
      Alu polymorphisms in autosomal DNA show considerable differentiation between Sardinian people from southern and central Sardinia and Corsican people from northern and southern Corsica.

Veronica Latini, Gabriella Sole, Silvia Doratiotto, Daniela Poddie, Marc Memmi, Laurent Varesi, Giuseppe Vona, Antonio Cao, and Maria Serafina Ristaldi. "Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region." European Journal of Human Genetics 12 (2004): pages 613-619. First published online on April 28, 2004.

Excerpts from the body of the paper:

[...] According to mitochondrial DNA sequence variations, the Sardinian-Corsica block was peopled in a period between 14 000 and 78 000 years ago (Paleolithic period), through the Tuscany island during the last glaciation (Wurm), when the sea level was lower. After the physical separation (during the Pleistocene period), the population of the two islands fell apart even though a reduced, but constant genetic flow remains between north Sardinia and southern Corsica. For both islands, genetic drift, isolation and low population numbers have played a strong part in their genetic shaping. Sardinia and Corsica were invaded several times, often by the same populations. In the great majority of cases, these invasions were limited to the coast and left slight marks on the gene pool of the native populations. Strong evidence also suggests an internal microgeographic diversity inside Sardinia and Corsica, with the most conserved population located in the center of the two islands on the mountainous regions. The internal conserved populations of Sardinia and Corsica are also genetically closer between the two islands. [...]"

Charleston W. K. Chiang, Joseph H. Marcus, Carlo Sidore, Arjun Biddanda, Hussein Al-Asadi, Magdalena Zoledziewska, Maristella Pitzalis, Fabio Busonero, Andrea Maschio, Giorgio Pistis, Maristella Steri, Andrea Angius, Kirk E. Lohmueller, Goncalo R. Abecasis, David Schlessinger, Francesco Cucca, and John Novembre. "Genomic history of the Sardinian population." Nature Genetics 50:10 (October 2018): pages 1426-1434. Excerpts:

"Our analysis of divergence times suggests the population lineage ancestral to modern-day Sardinia was effectively isolated from the mainland European populations ~140-250 generations ago, corresponding to ~4,300-7,000 years ago assuming a generation time of 30 years [...] in terms of relative values, the divergence time between Northern and Southern Europeans is much more recent than either is to Sardinia, signaling the relative isolation of Sardinia from mainland Europe."

"We documented fine-scale variation in the ancient population ancestry proportions across the island. The most remote and interior areas of Sardinia-the Gennargentu massif covering the central and eastern regions, including the present-day province of Ogliastra-are thought to have been the least exposed to contact with outside populations. We found that pre-Neolithic hunter-gatherer and Neolithic farmer ancestries are enriched in this region of isolation."

"We found Sardinians show a signal of shared ancestry with the Basque in terms of the outgroup f3 shared-drift statistics. This is consistent with long-held arguments of a connection between the two populations, including claims of Basque-like, non-Indo-European words among Sardinian placenames. More recently, the Basque have been shown to be enriched for Neolithic farmer ancestry and Indo-European languages have been associated with steppe population expansions in the post-Neolithic Bronze Age. These results support a model in which Sardinians and the Basque may both retain a legacy of pre-Indo-European Neolithic ancestry."

"While we can confirm that Sardinians principally have Neolithic ancestry on the autosomes, the high frequency of two Y-chromosome haplogroups (I2a1a1 at ~39% and R1b1a2 at ~18%) that are not typically affiliated with Neolithic ancestry is one challenge to this model. Whether these haplogroups rose in frequency due to extensive genetic drift and/or reflect sex-biased demographic processes has been an open question. Our analysis of X chromosome versus autosome diversity suggests a smaller effective size for males, [...] We also find that the genetic ancestry enriched in Sardinia is more prevalent on the X chromosome than the autosome, suggesting that male lineages may more rapidly trace back to the mainland. Considering that the R1b1a2 haplogroup may be associated with post-Neolithic steppe ancestry expansions in Europe, and the recent timeframe when the R1b1a2 lineages expanded in Sardinia, the patterns raise the possibility of recent male-biased steppe ancestry migration to Sardinia, [...] Such a recent influx is difficult to square with the overall divergence of Sardinian populations observed here."

L. Contu, C. Carcassi, and J. Dausset. "The 'Sardinian' HLA-A30,B18,DR3,DQw2 haplotype constantly lacks the 21-OHA and C4B genes. Is it an ancestral haplotype without duplication?" Immunogenetics 30:1 (1989): pages 13-17.

Rosanna Lampis, Laura Morelli, Mauro Congia, Maria Doloretta Macis, Annapaola Mulargia, Miriam Loddo, Stefano De Virgiliis, Maria Giovanna Marrosu, John A. Todd, and Francesco Cucca. "The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases." Human Molecular Genetics 9:20 (2000): pages 2959-2965.
      A study of HLA-DRB1-DQA1-DQB1 haplotypes among Sardinians.

M.-C. Grimaldi, B. Crouau-Roy, L. Contu, and J. P. Amoros. "Molecular variation of HLA class I genes in the Corsican population: approach to its origin." European Journal of Immunogenetics 29:2 (April 2002): pages 101-107.
      The human leucocyte antigen (HLA) class I loci haplotypes among Sardinians are similar to those among southwestern Corsicans.

Veronica Latini, Lucia Vacca, Maria Serafina Ristaldi, Maria Franca Marongiu, Marc Memmi, Laurent Varesi, and Giuseppe Vona. "beta-Globin cluster haplotypes in Corsica and Sardinia populations." Human Biology 75:6 (2003): pages 855-871. Excerpts from the Abstract:

"[...] The results show a remarkable heterogeneity within the two islands. However, the presence of rare haplotypes common to the most conservative areas (Nuoro and Corte) of the two islands is particularly interesting. These data support the hypothesis of a common origin of the populations of Sardinia and Corsica during the middle and upper Paleolithic periods and could be interpreted as a founder effect."

S. Tofanelli, L. Taglioli, Laurent Varesi, and G. Paoli. "The STR-based genetic profile of the population from Corsica island (France)." Forensic Science International 121 (2001): pages 33-38.
      STR autosomal markers show considerable differentiation between Corsican people from northern and southern Corsica and Sardinian people from southern and central Sardinia. Corsicans have "a high level of heterogeneity".

Charleston W. K. Chiang, J. Marcus, Carlo Sidore, Magdalena Zoledziewska, M. Steri, H. Al-Asadi, Serena Sanna, Gonçalo R. Abecasis, David Schlessinger, F. Cucca, and J. Novembre. "Using whole-genome sequencing to shed insight on the complex prehistory of Sardinia." A paper presented at the annual meeting of The American Society of Human Genetics (ASHG) in October 18-22, 2016.
      Sardinians show higher Neolithic farmer ancestry on their X chromosomes. Excerpts from the Abstract:

"[...] previous studies of uniparental markers have highlighted the high frequency of the Y-chromosome haplotype I2a1a1 in Sardinia, which has been associated with Paleolithic ancestry in Europe. [...] We confirm that compared to mainland Europeans, Sardinians exhibit the greatest amount of shared drift with Neolithic farmers. Within the island of Sardinia, there is a demarcation of individuals from the Lanusei Valley in the geographically isolated province of Ogliastra and individuals from other provinces. [...] Finally, we find that the Sardinian people exhibit increased sharing of alleles with the Neolithic farmers on the X chromosome compared to the autosome [...], suggesting a sex-biased demographic history in Sardinia. Together, our results indicate that in addition to the strong Neolithic farmer component of ancestry, isolated regions of Sardinia also harbors significant ancestry components from Paleolithic Europe and that the Neolithic transition in Sardinia may have involved sex-biased demographic change. [...]"

Joseph H. Marcus, Cosimo Posth, Harald Ringbauer, Luca Lai, Robin Skeates, Carlo Sidore, Jessica Beckett, Anja Furtwängler, Anna Olivieri, Charleston W. K. Chiang, Hussein Al-Asadi, Kushal Dey, Tyler A. Joseph, Chi-Chun Liu, Clio Der Sarkissian, Rita Radzevičiūtė, Megan Michel, Maria Giuseppina Gradoli, Patrizia Marongiu, Salvatore Rubino, Vittorio Mazzarello, Daniela Rovina, Alessandra La Fragola, Rita Maria Serra, Pasquale Bandiera, Raffaella Bianucci, Elisa Pompianu, Clizia Murgia, Michele Guirguis, Rosana Pla Orquin, Noreen Tuross, Peter van Dommelen, Wolfgang Haak, David Reich, David Schlessinger, Francesco Cucca, Johannes Krause, and John Novembre. "Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia." Nature Communications 11 (February 24, 2020): article number 939.
      A study of admixture involving the autosomal DNA, Y-DNA, and mtDNA of ancient and medieval inhabitants of Sardinia and comparing them to modern inhabitants. They interpret the results to mean that there was some modest gene flow into Sardinia after the 2nd millennium BCE arriving from eastern and northern Mediterranean locations. Modern ethnic Sardinians "have retained an exceptionally high degree of EEF ancestry and so they still cluster with several mainland European Copper Age individuals such as Ötzi, even as they are shifted from ancient Sardinian individuals of a similar time period". Figure 5 includes "PCA results based on present-day Sardinian individuals".

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