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Factor XI mutation and the origin of Ashkenazi Jews

Department of Haematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia

Correspondence: Avshalom Zoossmann-Diskin, Department of Haematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia

Zadra et al.¹ report that both type II and type III mutations of coagulation factor XI are present among Italians at low but approximately equal proportions. In spite of the fact that they have not conducted a linkage disequilibrium analysis they conclude that "haplotype analysis demonstrated the Jewish origin of both the type II and type III mutations" and that "gene flow was responsible for the diffusion of these mutations among Italians".

A more likely scenario is that the mutations originated in the Italian population, similarly to the non-Jewish European origin of the common Ashkenazi Gaucher mutation, N370S.² This coincides with the postulated origin of Ashkenazi Jews in Italy,^3,4 and with the ancient Roman Jewish community being mainly a community of proselytes.^5–8 Genetic distance analyses also demonstrate the resemblance between the major Ashkenazi population, Eastern European Jews, and Italians.^9–11

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1. Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, et al. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians. Haematologica 2008;93:715-21.[Abstract/Free Full Text]
2. Rodriguez-Mari A, Diaz-Font A, Chabas A, Pastores GM, Grinberg D, Vilageliu L. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplo-type analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms. Blood Cells Mol Dis 2001;27:950-9.[CrossRef][ISI][Medline]
3. Kriegel M. BarNavi E, The beginnings of European Jewry, 500–1096 - A historical atlas of the Jewish people, London: Hutchinson. 1992. p. 78-9.
4. Hendelssmann Y. Shavit S, Shamir I, ed. The Jewish centre in Ashkenaz in the 10–13th centuries - The history of the people of Israel, Givataim, Israel: Massada. 1985. p. 72-3, (in Hebrew).
5. Eilat T. The Jewish community in pagan Rome from its beginning in times of the republic till Christianity became a recognized religion of the Roman Empire [MA dissertation], Tel-Aviv: Tel-Aviv University. 1979, (in Hebrew with English abstract).
6. Feldman LH. Stern M, Proselytism and syncretism - The Diaspora in the Hellenistic-Roman world, Israel: The Society For The Publication Of The History Of The Jewish People. 1983. p. 188-207, (in Hebrew).
7. Meroz N. Proselytism in the Roman Empire in the first centuries A.D. [MA dissertation], Tel-Aviv: Tel-Aviv University. 1992, (in Hebrew with English abstract).
8. Rapaport U. Jewish religious propaganda and proselytism in the period of the second commonwealth [PhD dissertation], Jerusalem: The Hebrew University. 1965, (in Hebrew with English abstract).
9. Bonné-Tamir B, Zoossmann-Diskin A, Ticher A, Oppenheim A, Nevo S. Roberts DF, Fujiki N, Torizuka K, ed. Genetic distance analyses in Israeli groups using classical markers and DNA polymorphisms in the '-globin gene - Isolation Migration and Health, Cambridge: Cambridge University Press. 1992. p. 87-106.
10. Zoossmann-Diskin A, Joel A, Liron M, Kerem B, Shohat M, Peleg L. Protein electrophoretic markers in Israel: compilation of data and genetic affinities. Ann Hum Biol 2002;29:142-75.[CrossRef][ISI][Medline]
11. Zoossmann-Diskin A, Gazit E, Peleg L, Shohat M, Turner D. Thrombophilic polymorphisms in Israel. Blood Cells Mol Dis In press, 2008.

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