Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language

Zoë H. Rosser, Tatiana Zerjal, Matthew E. Hurles, Maarja Adojaan, Dragan Alavantic, António Amorim, William Amos, Manuel Armenteros, Eduardo Arroyo, Guido Barbujani, Gunhild Beckman, Lars Beckman, Jaume Bertranpetit, Elena Bosch, Daniel G. Bradley, Gaute Brede, Gillian Cooper, Helena B.S.M. Côrte-Real, Peter de Knijff, Ronny Decorte, Yuri E. Dubrova, Oleg Evgrafov, Anja Gilissen, Sanja Glisic, Mukaddes Gölge, Emmeline W. Hill, Anna Jeziorowska, Luba Kalaydjieva, Manfred Kayser, Toomas Kivisild, Sergey A. Kravchenko, Astrida Krumina, Vaidutis Kučinskas, João Lavinha, Ludmila A. Livshits, Patrizia Malaspina, Syrrou Maria, Ken McElreavey, Thomas A. Meitinger, Aavo-Valdur Mikelsaar, R. John Mitchell, Khedoudja Nafa, Jayne Nicholson, Søren Nørby, Arpita Pandya, Jüri Parik, Philippos C. Patsalis, Luísa Pereira, Borut Peterlin, Gerli Pielberg, Maria João Prata, Carlo Previderé, Lutz Roewer, Siiri Rootsi, D.C. Rubinsztein, Juliette Saillard, Fabrício R. Santos, Gheorghe Stefanescu, Bryan C. Sykes, Aslihan Tolun, Richard Villems, Chris Tyler-Smith, Mark A. Jobling

Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sample of 3,616 Y chromosomes belonging to 47 European and circum-European populations. Patterns of geographic differentiation are highly nonrandom, and, when they are assessed using spatial autocorrelation analysis, they show significant clines for five of six haplogroups analyzed. Clines for two haplogroups, representing 45% of the chromosomes, are continentwide and consistent with the demic diffusion hypothesis. Clines for three other haplogroups each have different foci and are more regionally restricted and are likely to reflect distinct population movements, including one from north of the Black Sea. Principal-components analysis suggests that populations are related primarily on the basis of geography, rather than on the basis of linguistic affinity. This is confirmed in Mantel tests, which show a strong and highly significant partial correlation between genetics and geography but a low, nonsignificant partial correlation between genetics and language. Genetic-barrier analysis also indicates the primacy of geography in the shaping of patterns of variation. These patterns retain a strong signal of expansion from the Near East but also suggest that the demographic history of Europe has been complex and influenced by other major population movements, as well as by linguistic and geographic heterogeneities and the effects of drift.