The Y-chromosomal haplotype and haplogroup distribution of modern Switzerland still reflects the alpine divide as a geographical barrier for human migration

Abstract

A sample of 606 Swiss individuals has been characterized for 27 Y-STR and 34 Y-SNPs, defining major European haplogroups. For the first time, a subsample from the southernmost part of Switzerland, the Italian speaking canton Ticino, has been included. The data reveals significant intra-national differences in the distribution of haplogroups R1b-U106, R1b-U152, I1 and J2a north and south of the alpine divide, with R1b-U152 being the most frequent haplogroup among all Swiss subpopulations, reaching 26 % in average and 53 % in the Ticino sample. In addition, a high percentage of haplogroup E1b1b-M35 in Eastern Switzerland corresponds well with data reported from Western Austria. In general, we detected a low level of differentiation between the subgroups north of the alpine divide. The dataset also revealed a variety of microvariants. Some of them were previously known to be associated with particular haplogroups. However, we discovered one microvariant in DYS533 that seems to be closely associated with haplogroup I2-P215 (xM223). This association had not yet been reported to date. The concordance study with two STR-kits suggests that the DYS533 microvariant is due to an InDel in the flanking regions of the marker. One individual carried a large deletion, frequently detected in people of East Asian ancestry, encompassing the amelogenin locus. To our knowledge, this is the first time that such a deletion has been observed within European haplogroup R1b-U152. This is the first comprehensive Y chromosomal dataset for Switzerland, demonstrating significant population substructure due to an intra-national geographical barrier.

Croatian Genetic Heritage: Renewed Y Chromosome Story Two Decades Later

“…The reason for the two analyses was because of the increased number of markers in the analyzed population and the reduced number of markers in the populations that were available for comparison. The first group of populations selected for comparison with the population of Croatia using the Yfiler™ Plus marker set included: Croatia (n = 507, present study), Slovenia (n = 194, (22)), Belgium (n = 160, (23-26)), Hungary (n = 218, (27-33)), Austria (n =392, (34-38)), Germany (n = 495, (39-49)), Italy (n = 689, (50-67)), North Macedonia (n = 295, (68-71)), Serbia (n = 183, (72-74)), Denmark (n=177, (75)), Ethiopia (n=290, (76)), French Polynesia (n=81), (77, 78)), Ghana (n=584, (79)), India (n=541, (80-98)), Lithuania (n=251, (99-101)), Mexico (n=354, (102-107)), Nigeria (n=337, (108)), Pakistan (n=280, (109-121)), Poland (n=612, (122-130)), Russian Federation (n=958, (131-143)), Saudi Arabia (n=156, (144, 145)), Spain (n=316, (146-164)), Switzerland (n=724, (19, 165, 166)), and United Kingdom (n=115, (167, 168)).…”

“…The reason for the two analyses was because of the increased number of markers in the analyzed population and the reduced number of markers in the populations that were available for comparison. The first group of populations selected for comparison with the population of Croatia using the Yfiler™ Plus marker set included: Croatia (n = 507, present study), Slovenia (n = 194,(22)), Belgium (n = 160,[23][24][25][26]), Hungary (n = 218,[27][28][29][30][31][32][33] Arabia (n=156,(144,145)), Spain (n=316,[146][147][148][149][150][151][152][153][154][155][156][157][158][159][160][161][162][163][164]), Switzerland (n=724, (19,165,166)), and United Kingdom (n=115,(167,168)).…”

“…Discrimination capacity (DC) was calculated by dividing the number of haplotypes by the number of individuals in the population (21,22). Allele and haplotype frequencies, as well as gene and haplotype diversity, were calculated using the STRAF software package v2.0.4 (23,24). Genetic distances between groups of males and between populations were quantified by Rst using AMOVA online tool from the YHRD (25,26).…”

“…Discrimination capacity (DC) was calculated by dividing the number of haplotypes by the number of individuals in the population (21, 22). Allele and haplotype frequencies, as well as gene and haplotype diversity, were calculated using the STRAF software package v2.0.4 (23, 24).…”

Croatian genetic heritage: an updated Y-chromosome story

“…STRAF software package v. 2.0.4 was used to calculate allele and haplotype frequencies. The same software was used to calculate gene and haplotype diversity (23,24). R st , calculated by AMOVA online tool from the YHRD, was used to quantify genetic distances between groups of men and between populations (25,26).…”