Sicilian Genetics: Abstracts and Summaries

by Kevin Alan Brook

Family Tree DNA - Genetic testing service
Family Tree DNA: Genetic Testing Service
You can test your uniparental and autosomal DNA to find matches with other Sicilians and you can join the "Sicily" project with over 2,000 members which has been around for over two decades and is administered by Elena McComas, Vincent J. Palozzi, Anthony Lizza, and Richard Blandini.

The people of the southern Italian island of Sicily have an amazing genetic diversity tracing to ancient ancestors primarily from Europe, West Asia, and North Africa. There are some geographical variations in haplogroup distributions and ancestral types and proportions across the island but the differences are relatively minor except in the province of Trapani. Distant Greek and Phoenician ancestries are common because eastern Sicily had ancient Greek colonies while western Sicily had Phoenician colonies. Carthaginians from Tunisia also arrived in Sicily. Sicilians and Calabrese (people from Calabria in mainland southern Italy) are especially similar to each other.

In the 1490s, some of Sicily's Jews were forced to convert to Catholicism and they have left a lasting genetic heritage in some areas of Sicily: the Siracusa region in the southeast, the province of Agrigento in the southwest, and the Palermo region in the northwest. This is why they occasionally match Jews in cousin lists in their autosomal DNA.

The mtDNA haplogroup X2-G225A-G14544A-C16344T-A200G-A9007G-C16242T, called X2y1d on Family Tree DNA's MitoTree, is shared between a Sicilian and GenBank's sample PV982268 from Abruzzo on mainland Italy.

In Family Tree DNA's "Sicily" project, some of the members who declare Sicilian maternal lines carry mtDNA haplogroups like D4j-T16311C! in MitoTree's branch D4j28, H7 in MitoTree's branch H7au, H30a in MitoTree's branch H30a4, H47 in MitoTree's branch H47d, H84 in MitoTree's branch H84c1, HV0-T195C! in MitoTree's branch HV0s'az, I6 in MitoTree's branch I6a'c, I6a, J1c in MitoTree's branch J1c26a2a+16189, J1d5 in MitoTree's branch J1d5e1, K1a4a1 in MitoTree's branch K1a4a1k, K1a5b, K1c1f in MitoTree's branch K1c1f3, L0a1a-A200G in MitoTree's branch L0a1a6, N1b1a in MitoTree's branch N1b1a13e, T1a1l in MitoTree's branch T1a1l2, T2 in MitoTree's branch T2bf, T2c1a3, T2h1, U5a2 in MitoTree's branch U5a2b23, U7a3a in MitoTree's branch U7a3a8, W1h1, and X2-G225A-T16223C in MitoTree's branch X2h"af, among others.

GenBank includes modern Sicilian carriers of such mtDNA haplogroups as H2a1a (sample KY399164), H2a3c (MN586592 from Aragona and KY399178), H7 (JQ031759 from Cerda), H12a (MW528315 from Palermo), H13a1a1 (GU945543 from Palermo), H65g1 (KY399172), K1a-C150T (KF564291 from Messina), K1a1f1 (KY399207), K2a9 (JQ705829), T2 (MK059750), T2e (KY399201), T2h1 (JN202724 from Carini), U1b3b (KY399202), U5a1n (KY399181), U5a2b1a (JQ655176), U6a1 (KM013404 from Alcara Li Fusi), and U7a3a1d (MH777997 from Palermo).

Examples of mtDNA haplogroups among Sicilians on YFull's MTree include H1b35 from Catania (YFull customer YF117254), H5a7g from Palermo (YFull customer YF103332), H113 from Catania (YFull customer YF071643), HV9 from Palermo (YFull customer YF102683), T2g1a5 from Agrigento (YFull customer YF137180), and U6a1a1a from Catania (YFull customer YF109316). T2g1a5 is shared with Sardinians and Libyans.

The small island of Ustica is part of the Autonomous Region of Sicily. MitoTree assignments for testers tracing back to women from Ustica include H57'202'203 and H330a.

Sicilians who uploaded to YFull demonstrate paternal connections to many other populations. For example, a branch of Y-DNA haplogroup L-PAGE116 called L-Y277713 is shared between a Sicilian from Palermo (YFull customer YF088084), an Armenian, and a non-Jew from Hebron. Haplogroup J-Y47962 is shared between a Sicilian from Palermo (YFull customer YF002754) and Albanians. Haplogroup J-Y180134 is shared between a Sicilian from Palermo (YFull customer YF063472) and a Yemeni. Haplogroup G-Y168959 is shared between a Sicilian from Agrigento (YFull customer YF074924) and an Azorean Portuguese man. Haplogroup R-Y92152, found in a Sicilian from Agrigento (YFull customer YF081808), has a branch found in Serbia and in the southern Italian region of Apulia (Puglia). Haplogroup J-FT44972, found in a Sicilian from Trapani (YFull customer YF063008), is shared with a Syrian man. Haplogroup J-BY55150 is shared betwen a Sicilian from Messina (YFull customer YF104249) and a Maltese man, among others.

Major studies of Sicilians

Anna Tommasi, Rajiv Boscolo Agostini, Giacomo Villani, Nicola Rambaldi Migliore, Maria Teresa Vizzari, Irene Cardinali, Rosalinda Di Gerlando, Valeria Nicolini, Patrìcia Santos, Anna Olivieri, Ugo A. Perego, Giulio Catalano, Nicoletta Volante, Lucia Sarti, David Caramelli, Luca Sineo, Hovirag Lancioni, Alessandra Modi, Silvia Ghirotto, and Alessandro Achilli. "Fifteen millennia of mitogenome evolution in Sicily." An abstract (page 361) and poster presented at the 11th International Symposium on Biomolecular Archaeology in August 26-29, 2025.
      They collected 236 new mtDNA sequences from modern Sicilians and compared them to ancient Sicilians, whose samples mostly came from past studies. Their moderns have mtDNA haplogroups in the families A1, C5, D4, H, H1, H2, H3, H4, H5, H6, H14, HV, HV0, I, J1, J2, K, L1, L2, L3, L4, M1, N1, R0, T1, T2, U1, U2, U3, U4, U5, U6, U7, U8b, V, W, and X2. These are mostly of West Eurasian origin but a minority have North African and Sub-Saharan African origins. Haplogroups in the K family (including K1a3 and K2b) as well as haplogroup U8b1b1 are believed to have arrived in Sicily from Neolithic farmers.
      Most of the study's modern Sicilian mtDNA samples were posted on GenBank on September 9, 2025 and include such haplogroups as H7c2 (PQ835374), H87 (PQ8257290), H392 (PQ825620), J2a1a2a (PQ835343), K1a1c1a1 (PQ835297), K1a4c1 (PQ835403), K2a9a (PQ835396), R0a2c (PQ825721), T2c1d1d (PQ835348), U6a7a1b (PQ835299), and X2b4 (PQ835349).

Alessandro Raveane, Serena Aneli, et al. "Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe." Science Advances 5:9 (September 4, 2019): eaaw3492.
      This autosomal DNA study found that Sicilian people genetically cluster with mainland Italians from southern Italy and south-central Italy.

Alessandro Raveane, Ludovica Molinaro, et al. "Assessing temporal and geographic contacts across the Adriatic Sea through the analysis of genome-wide data from Southern Italy." Genomics 114:4 (July 2022): article number 110405.
      This autosomal DNA study compares modern Sicilians and other Italians to each other and to other modern populations as well as to ancient samples. Western Sicilians were found to belong to a genetic cluster they number 4 which they also found in Greece's Western Peloponnese region but "is virtually absent in Eastern Sicily". The genetic cluster they number 6 is shared between Sicily, Calabria, Apulia, and the Western Peloponnese. The genetic cluster they number 3 is shared between populations in Eastern Sicily and Apulia with Greeks from the Tsakonian region of the Peloponnese. The genetic cluster they number 9 is found in 16-30 percent of Sicilians and shared with central Italians and northern Italians but not found in Greeks.

Stefania Sarno, Alessio Boattini, Marilisa Carta, Gianmarco Ferri, Milena Alù, Daniele Yang Yao, Graziella Ciani, Davide Pettener, and Donata Luiselli. "An ancient Mediterranean melting pot: investigating the uniparental genetic structure and population history of sicily and southern Italy." PLoS One 9:4 (April 30, 2014): e96074. Excerpts from the Abstract:

"[...] we surveyed the genetic variability of 326 accurately selected individuals from 8 different provinces of Sicily and Southern Italy, through a comprehensive evaluation of both Y-chromosome and mtDNA genomes. The main goal was to investigate the structuring of maternal and paternal genetic pools within Sicily and Southern Italy, and to examine their degrees of interaction with other Mediterranean populations. Our findings show high levels of within-population variability, coupled with the lack of significant genetic sub-structures both within Sicily, as well as between Sicily and Southern Italy. [...] Sicily and Southern Italy reveal a shared paternal genetic background with the Balkan Peninsula [...] Overall, both uniparental genetic structures and TMRCA estimates confirm the role of Sicily and Southern Italy as an ancient Mediterranean melting pot for genes and cultures."

Stefania Sarno, Alessio Boattini, et al. "Ancient and recent admixture layers in Sicily and Southern Italy trace multiple migration routes along the Mediterranean." Scientific Reports 7 (May 16, 2017): article number 1984.
      Using autosomal DNA, the authors noticed "a shared Mediterranean genetic continuity, extending from Sicily to Cyprus".

Cornelia Di Gaetano, Nicoletta Cerutti, et al. "Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome." European Journal of Human Genetics 17 (August 2008): pages 91-99. Excerpts from the Abstract:

"[...] The genetic contribution of Greek chromosomes to the Sicilian gene pool is estimated to be about 37% whereas the contribution of North African populations is estimated to be around 6%. In particular, the presence of a modal haplotype coming from the southern Balkan Peninsula and of its one-step derivates associated to E3b1a2-V13, supports a common genetic heritage between Sicilians and Greeks. The estimate of Time to Most Recent Common Ancestor is about 2380 years before present, which broadly agrees with the archaeological traces of the Greek classic era. [...] The general heterogeneous composition of haplogroups in our Sicilian data is similar to the patterns observed in other major islands of the Mediterranean, reflecting the complex histories of settlements in Sicily."

Cornelia Di Gaetano, Floriana Voglino, et al. "An Overview of the Genetic Structure within the Italian Population from Genome-Wide Data." PLoS One 7:9 (September 12, 2012): e43759.
      This study with only 49 DNA samples includes some participants from Sicily.

G. Vona, M. E. Ghiani, C. M. Calò, L Vacca, M. Memmì, and L. Varesi "Mitochondrial DNA Sequence Analysis in Sicily." American Journal of Human Biology 13:5 (September-October 2001): pages 576-589.
      Analyzed the HVR1 of the mtDNA of Sicilians from Alia in the Palermo region.

C. M. Calo, L. Garofano, A. Mameli, M. Pizzamiglio, and Giuseppe Vona. "Genetic Analysis of a Sicilian Population Using 15 Short Tandem Repeats." Human Biology 75:2 (April 2003): pages 163-178.
      An old-style study of 15 particular markers in the autosomal DNA of Sicilians from Alia in the Palermo region. They claim that inhabitants of Alia have noteworthy differences from other Sicilians.

M. E. Ghiani, M. C. Calò, L. Autuori, G. E. Mameli, V. Succa, L. Vacca, N. Cerutti, E. Rabino Massa, and G. Vona. "New data on the genetic structure of the population of Sicily: analysis of the Alia population (Palermo, Italy)." American Journal of Human Biology 14:3 (May-June 2002): pages 289-299.
      Tested 13 genetic markers of Sicilians from Alia in the Palermo region.

Alberto Piazza, G. Matullo, V. Romano, G. F. Ayala, C. T. Bonanno, F. Calì, C. D'Anna, R. D'Anna, G. DeLeo, O. Giambalvo, S. Guarrera, C. R. Guglielmino, A. Salerno, and G. Zei. "Towards a genetic history of Sicily." Journal of Cultural Heritage 1, Supplement 2 (October 2000): pages S39-S42.
      Tested 3 autosomal DNA microsatellite loci of Sicilians from the towns of Troina (in Enna province) and Sciacca (in Agrigento province). They found that the two Sicilian populations are more similar to each other than they are to mainland Italians.

O. Rickards, C. Martinez-Labarga, G. Scano, G. F. De Stefano, G. Biondi, M. Pacaci, and H. Walter. "Genetic History of the Population of Sicily." Human Biology 70:4 (August 1998): pages 699-714.
      Tested 24 genetic markers of 2354 Sicilians from across all 9 of Sicily's provinces.


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