Maltese 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 Maltese as well as see if you match any Sardinians, Sicilians, Italians, and members of other ethnicities. The "Malta Project" administered by Stephen Asciak is available to testers of ethnic Maltese background.

Maltese people live on the island of Malta in the middle of the Mediterranean Sea. They are mostly descended from southwestern Sicilians, not much from Phoenicians. The Maltese language is written in the Latin alphabet and several of the letters have accent marks. Its vocabulary is primarily a combination of Semitic with Sicilian and Italian but some words come from English and French. Most Maltese are Roman Catholics.

Mitochondrial DNA (mtDNA) haplogroups of the Malta project's members include H, H13c1, H1bv1, H33, H5a2, HV, HV4a2, J, J2b1a, L2a, L2a1c, L3e1, R0a-60.1T, T2, T2b7a, T2e, T2h, U7, U7a, and U8b1a, among approved ethnic Maltese members who are grouped into haplogroup sections.

Y-chromosomal (Y-DNA) haplogroups of the Malta project's members include E1a1, E1b1, G, I1, I2b, R1a, and R1b, among approved ethnic Maltese members who are grouped into haplogroup sections.

A Maltese participant in National Geographic's Geno 2.0 belongs to the Y-DNA haplogroup I-L160 (called I2a1b by Family Tree DNA), as Bernie Cullen wrote here.

Maltese who tested with 23andMe show predominantly European ancestry (typically about 88 percent and most of that Southern European with the largest amount of that called "Italian") plus about 9-11 percent Middle Eastern and North African and a small amount of Sub-Saharan African. Maltese using 23andMe's Relative Finder tend to have a great many genetic relatives from Italy as well as from Malta.

Major studies of Maltese

Cristian Capelli, Nicola Redhead, Valentino Romano, Francesco Calì, Gerard Lefranc, Valerie Delague, Andre Megarbane, Alex E. Felice, Vincenzo L. Pascali, Pavlos I. Neophytou, Zena Poulli, Andrea Novelletto, Patrizia Malaspina, Luciano Terrenato, A. Berebbi, Marc Fellous, Mark G. Thomas, and David B. Goldstein. "Population structure in the Mediterranean basin: a Y chromosome perspective." Annals of Human Genetics 70(Part 2) (March 2006): pages 207-225.
      This is a comprehensive study of the Y-DNA haplogroups and population structures of ethnic groups living near the Mediterranean Sea. 90 Maltese men were recruited specifically for this study and their Y-DNA haplogroups were reported to be as follows:
E1a1 (called E*(xE1b1a,E1b1b) here) in 1 sample (1.1%)
E1b1a (formerly called E3a) in 1 sample (1.1%)
E1b1b (formerly called E3b) in 8 samples (8.9%)
F in 6 samples (6.7%)
I in 11 samples (12.2%)
J in 27 samples (28.9%) of which 7.8% in J1 (also called J* (xJ2)) and 21.1% in J2
K in 4 samples (4.4%)
P in 1 sample (1.1%)
R1 in 29 samples (35.55%) of which 3.3% in R1a (3 samples in R1a1) and 32.2% in R1b
plus two more.

Alex E. Felice. "The Genetic Origin of Contemporary Maltese." The Sunday Times of Malta, August 5, 2007.
      Felice interprets the data reported in an article he co-authored, "Population structure in the Mediterranean basin: a Y chromosome perspective". Excerpts:

"[...] we have shown that the contemporary males of Malta most likely originated from Southern Italy, including Sicily and up to Calabria. There is a minuscule amount of input from the Eastern Mediterranean with genetic affinity to Christian Lebanon. Of course, females may have moved, or been moved, along a different route. [...] We documented clustering of the Maltese markers with those of Sicilians and Calabrians. [...]"

Pierre A. Zalloua, Daniel E. Platt, Mirvat El Sibai, Jade Khalife, Nadine Makhoul, Marc Haber, Yali Xue, Hassan Izaabel, Elena Bosch, Susan M. Adams, Eduardo Arroyo, Ana María López-Parra, Mercedes Aler, Antònia Picornell, Misericordia Ramon, Mark A. Jobling, David Comas, Jaume Bertranpetit, R. Spencer Wells, Chris Tyler-Smith, and The Genographic Consortium. "Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean." American Journal of Human Genetics 83:5 (November 17, 2008): pages 633-642.
      187 men from Malta had their Y-chromosomal DNA results included on Table S3, which reports the following frequencies for their haplogroups:
E1b1b was found among 12 (6.4%) of them
G was found among 17 (9.1%) of them
I was found among 17 (9.1%) of them
J2 was found among 59 (31.6%) of them
R1a was found among 10 (5.3%) of them
R1b was found among 41 (21.9%) of them
None of them carried L, T, or J(xJ2).

G. Dean, T. W. Yeo, A. Goris, C. J. Taylor, R. S. Goodman, M. Elian, A. Galea-Debono, A. Aquilena, Alex E. Felice, M. Vella, S. Sawcer, and D. A. Compston. "HLA-DRB1 and multiple sclerosis in Malta." Neurology 70:2 (January 8, 2008): pages 101-105. First published online on December 5, 2007.
      An evaluation of chromosome 6's human leukocyte antigen (HLA) types in Maltese. Excerpt from the Abstract:

"[...] By comparison with the neighboring island of Sicily, the frequency of multiple sclerosis (MS) in Malta is remarkably low. [...] The anticipated association with HLA-DRB1*15, the main susceptibility allele in most other populations, was confirmed (p(c) = 0.009) but, in addition, we also observed an equally strong, and apparently protective, effect of the HLA-DRB1*11 allele (p(c) = 0.016). In comparison with previously published data from Sicily, we found that all HLA-DRB1 risk alleles were more common in Malta, whereas HLA-DRB1*11 was slightly less common. [...]"

Rosienne Farrugia, Christian Scerri, Simon Attard Montalto, Raymond Parascandolo, Brian G. R. Neville, and Alex E. Felice. "Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population." Molecular Genetics and Metabolism 90 (2007): pages 277-283. First published online on December 22, 2006.

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