Abstract :

Different regional populations from Poland

were studied in order to assess the genetic heterogeneity

within Poland, investigate the genetic relationships with

other European populations and provide a population-specific

reference database for anthropological and forensic

studies. Nine Y-chromosomal microsatellites were analysed

in a total of 919 unrelated males from six regions of

Poland and in 1,273 male individuals from nine other European

populations. AMOVA revealed that all of the molecular

variation in the Polish dataset is due to variation

within populations, and no variation was detected among

populations of different regions of Poland. However, in

the non-Polish European dataset 9.3% (P<0.0001) of the

total variation was due to differences among populations.

Consequently, differences in RST-values between all possible

pairs of Polish populations were not statistically significant,

whereas significant differences were observed in

nearly all comparisons of Polish and non-Polish European

populations. Phylogenetic analyses demonstrated tight

clustering of Polish populations separated from non-Polish

groups. Population clustering based on Y-STR haplotypes

generally correlates well with the geography and

history of the region. Thus, our data are consistent with

the assumption of homogeneity of present-day paternal

lineages within Poland and their distinctiveness from

other parts of Europe, at least in respect to their Y-STR

haplotypes. Electronic supplementary material to this paper

can be obtained by using the Springer LINK server located

at http://dx.doi.org/10.1007/s00439-002-0728-0.


Slavic-speaking populations originate from a territory between

the upper Bug river and the mid-Dnepr river. Migration

routes of the Slavs led as far as the River Elbe in

the West, the River Don in the east, and the Balkans in

southeastern Europe. These migrations and the invasions

of the Magyars at the end of the ninth century A.D. divided

the Slavs into Western, Eastern and Southern populations.

The Poles are descendants of Western Slavs who

repeatedly settled and resettled by a variety of human

populations, notably the Germans (in the twelfth and thirteenth

centuries and in the seventeenth to twentieth centuries).

A close historical relationship existed with Lithuania,

which was unified with Poland from the fourteenth to

the eighteenth century, and with Latvia, which was heavily

under the influence of the unified Polish-Lithuanian

state. Other populations (e.g. Jews, Ukrainians, Belarussians)

settled in Poland, which reached its largest extension

in the seventeenth century with Eastern borders at the

River Dnepr. After that, Poland repeatedly lost large territories

to neighbouring countries and, in 1795, disappeared

completely from the political map of Europe, not reappearing

until after World War I. Later, World War II and

its devastating geopolitical consequences in Central and

Eastern Europe led among other things to forced displacement

of a German population of 8 million in Silesia,

Pomerania, and western and eastern Prussia by a population

of 3 million Poles, most of whom had formerly been

settled in present-day Ukraine and Belarus. More than 2.6

million Polish Jews were exterminated during the German

occupation. In 1939 31% of Poland’s population was still

of non-Polish descent, while today only 450,000 members

of populations groups of non-Polish descent are living

among nearly 40 million Poles.

To investigate the putatively emerging genetic homogeneity

of the present-day Polish population, we have performed

a population genetic analysis on the basis of

Y-chromosomal microsatellite haplotypes.

Microsatellite or short tandem repeat (STR) sequences located on the human Y chromosome have been described as sensitive

tools that can be used to characterize even phylogenetically

closely related neighbouring populations, such as

the Germans and the Dutch (Kayser et al. 2002; Roewer et

al. 1996, 2001). They are also commonly used in differentiating

male lineages within regional populations, for instance

in paternity testing and forensic analysis (Kayser et

al. 1997, 2001b; Roewer et al. 2001). The relatively high

mutation rates at these rapidly evolving loci (Kayser et al.

1997, 2000a) correlate with an extensive local polymorphism,

which allows analyses of migrations and settlements

in historical rather than evolutionary time spans

(de Knijff et al. 1997; Kayser et al. 2001b). Thus, an

analysis of molecular variance (AMOVA) approach based

on Y-STR haplotype data is expected to be the method of

choice to investigate the degree and significance of differentiation

of present-day Polish and other Eastern and central

European male populations that shared territories and

interacted for quite a long period of historical time.

Materials and methods


The 919 unrelated male Polish individuals analysed were sampled

from six regional populations in Poland: from Warsaw (n=240),

Bydgoszcz (n=167), Gdansk (n=150), Lublin (n=134), Wroclaw

(n=121), and Krakow (n=107). For comparative reasons 1,272 individuals

from nine eastern and southern European populations

were also included: Germans from Berlin (n=239) and from

Leipzig (n=200), Russians from Moscow (n=85), Lithuanians

from Vilnius (n=152), Estonians from Tartu (n=133), and Latvians

from Riga (n=145). Samples came from the respective towns and

the surrounding areas. In addition, published Y-STR haplotype

data of Hungarians living in Budapest (n=115) and of Baranya-Romanies

(n=78) (Füredi et al. 1999), and also of Italians from the

area in and around Rome (n=125) (Caglia et al. 1998) were included.

The geographical locations of the populations studied are

shown and the relevant rivers are indicated in Fig. 1.

Genetic analysis

Nine Y-chromosomal microsatellite or short tandem repeat (STR)

loci have been analysed: DYS19, DYS389I, DYS389II, DYS390,

DYS391, DYS392, DYS393, DYS385. Locus information and

PCR-primer sequences can be obtained from Kayser et al. (1997)

or from the website http://www.ystr.org . Consistent allele designation

and typing quality were assured by simultaneous electrophoretic

analysis of sequenced allelic ladders or sequenced reference

DNA samples. In addition, all laboratories have successfully

passed genotyping quality control tests, e.g. the test evaluated

/ certified by the Institute of Legal Medicine, Humboldt-University,

Berlin   ( http://www.ystr.org/europe )The outline of the laboratory

procedures used by different laboratories is given in Table 1

(detailed protocols are available on request).

Statistical Analyses

Haplotype diversity, mean number of pairwise differences, RST

values and associated probability values estimated from 10,000

permutations were calculated, and AMOVA was performed based

on the Y-STR haplotypes using the software package ARLEQUIN

http://anthropologie.unige.ch/arlequin A neighbour-joining tree

was produced from the pairwise RST values using the relevant programs

in PHYLIP (http://evolution.genetics.washington.edu/phylip.

html) and viewed using the program TREEVIEW http://taxonomy.zoology.gla.ac.uk/rod/rod.html

A multidimensional scaling analysis

based on the pairwise RST values was performed using the

commercially available software package STATISTICA (Statsoft).

Differences between diversity values (haplotype diversity and

pairwise differences) of the average Polish group and the average

non-Polish group were tested for significance by using the single

population values and applying a generalized Student’s t-test in order

to account for the observed differences in standard deviations

(Welch 1947).

In all statistical analyses, alleles at DYS389II were considered

excluding variation at DYS389I. For DYS385, because of the unavailability

of a separate genetic analysis of this putatively duplicated

Y-STR system, the allele locus assignment was performed so

that for each individual the smaller allele was referred to one

(DYS385a) and the longer to the other (DYS385b) locus. We are

aware of the potential source of uncertainty caused by this procedure.

However, the major conclusions of the paper are not influenced

by this procedure since (1) identical significance patterns in

the diversity comparisons, (2) basically identical significance patterns

in pairwise RST comparisons, and (3) basically the same phylogenetic

relationships were revealed when analyses were repeated

but without the DYS385 data.


Among the 919 Polish males studied a total of 562 different

nine-locus Y-STR haplotypes were observed. The

most frequent haplotype occurred 41 times (4.5%), while

the four next most frequent haplotypes were found 31, 15,

13 and 10 times (with frequencies of 3.4%, 1.6%, 1.5%

and 1.1%, respectively). The remaining haplotypes occurred


with frequencies of less than 1%. Within the 919 males

there were 450 Y-STR haplotypes (80.1%) that were

found only once each.

Considerably high Y-STR haplotype diversity (>0.99)

was observed in every regional population except the endogamous

community of the Hungarian Baranya-Romanies,

as was a high mean number of mean pairwise differences

(>7) (Table 2). Consideration of the pooled Polish

and non-Polish populations revealed smaller diversity values

for the Polish sample at both diversity indices (Table

2). A statistical test revealed significant differences

(P<0.01) in the mean number of pairwise differences be-


Fig. 1 Map of Europe with the

location of the populations

studied in Poland: Bydgoszcz

(1), Krakow (2), Gdansk (3),

Wroclaw (4), Warsaw (5),

Lublin (6); Russia: Moscow

(7); Lithuania: Vilnius (8);

Latvia: Riga (9); Estonia: Tartu

(10); Germany: Berlin (11) and

Leipzig (12); Hungary: Budapest

(13) and Hungarian-

Romany from Baranya county

(14); and Italy: Rome (15).

Rivers mentioned in the text

are indicated

Table 1 An outline of the typing procedures used by different laboratories

Population PCR amplification Separation / detection

Bydgoszcz DYS19, DYS390, DYS389I/II in quadruplex; DYS391, DYS392,

DYS393 amplified in triplex; DYS385 in single analyses

ABI 377

Gdañsk Single analyses ABI 310

Lublin DYS19, DYS391, DYS392, DYS393 in quadruplex; DYS385/I

and II, DYS389 I/ II, DYS390 in triplex

Separation: 4% denaturing PAGE

Detection: FMBIO II scanner (Hitachi)

Germans /


DYS389I/II, DYS390, DYS385 amplified in pentaplex; DYS391,

DYS392, DYS393, DYS19 in quadruplex

ABI 377

Russians (Bosch et al. 2002) ABI 377

Warsaw Single analyses 5% denaturing PAGE, silver staining

Krakow (Kupiec et al. 2000) ABI 310

Baltic States (Lessig et al. 2001) ABI 310

tween the average Polish and the average non-Polish

group (both with and without the Romany), whereas nonsignificant

differences were obtained based on the haplotype

diversity values (with and without the Romanies).

The outlying position of the Baranya-Romanies has been

discussed in detail elsewhere (Füredi et al. 1999).

Analysis of molecular variance (AMOVA) revealed

that when the Polish dataset was considered exclusively

no molecular variation was evident among the different

regions of Poland, and thus all of the variance was found

within the regional populations (Table 3). This is in contrast

to findings in the non-Polish dataset, where a significant

proportion of 9.3% (P<0.0001) was due to variation

among populations and 90.7% was within populations.

When Polish and non-Polish populations were grouped

for analysis, 4.6% (P<0.01) was attributed to variation

among those two groups (Table 3).

Consequently, the pairwise population comparisons of

RST revealed that for the six Polish populations values

were close to zero and thus not statistically significant

(P>0.05), indicating that there was no substructure of

male lineages based on Y-STR haplotypes within Poland.

In contrast, comparisons of the Polish with non-Polish

European populations showed statistically significant differences

at the 5% level in all 54 pairwise tests, at the 1%

level in 53 of the 54 tests, and at the 0.1% level in 47 of

the 54 tests. Five out of the seven tests with non-significant

(0.001>P<0.01) results between the Polish and the

non-Polish groups included the Russian sample, and one

each of them included the Lithuanian and the Latvian

populations (Table 4). When samples from all six Polish

regions were analysed in a pooled fashion and compared

with non-Polish Europeans, RST-values were always statistically

significant (P=0.0004 for comparison with Russians

and P<0.0001 for all other pairwise comparisons).

Among non-Polish European populations RST-values

were statistically significant at the 5% level in 34 of the

36 comparisons (not between the Lithuanians and Lat-


Table 2 Diversity of Y-STR

haplotypes based on nine loci

in six Polish and nine additional

European populations


Population (country) No. of No. of Haplotype Mean no. of pairwise

individuals haplotypes diversity ± SD differences ± SD

Bydgoszcz (Poland) 167 135 0.9953±0.0019 7.66±3.92

Krakow (Poland) 107 87 0.9931±0.0033 8.06±3.81

Gdañsk (Poland) 150 113 0.9933±0.0024 7.90±4.19

Wroclaw (Poland) 121 98 0.9910±0.0038 7.23±3.93

Warsaw (Poland) 240 180 0.9944±0.0016 7.86±3.94

Lublin (Poland) 134 125 0.9985±0.0013 7.81±3.58

Moscow (Russia) 85 68 0.9916±0.0042 8.23±4.20

Vilnius (Lithuania) 152 123 0.9956±0.0016 8.14±3.85

Riga (Latvia) 145 120 0.9960±0.0017 8.49±4.11

Tartu (Estonia) 133 106 0.9949±0.0019 8.72±4.13

Berlin (Germany) 239 191 0.9966±0.0010 9.03±3.96

Leipzig (Germany) 200 164 0.9960±0.0014 8.46±4.03

Budapest (Hungary) 115 107 0.9988±0.0013 9.70±3.50

Rome (Italy) 125 121 0.9995±0.0011 10.28±3.80

Romany (Hungary) 78 32 0.9234±0.0195 9.25±5.23

All Polish regions 919 562 0.9950±0.0007 7.76±3.90

All non-Polish regions 1,272 835 0.9977±0.0002 9.46±4.03

Table 3 Results from analysis

of molecular variance


aDistance method: sum of

squared size difference between

Y-STR haplotypes (RST)

bExclusion of the Romany

group did not change the results


Dataset Grouping Source of variation Variation (%) Significance


All Polish regions No Among populations 0 0.6338

Within populations 100

All non-Polish


No Among populations 9.3 <0.0001

Within populations 90.7

All regionsb No Among populations 8.4 <0.0001

Within populations 91.6

All regionsb Polish versus


Among groups 4.6 0.0033

Among populations

within groups

5.8 <0.0001

Within populations 89.6 <0.0001


Table 4 Pairwise RST-values (and their P-valuesa) below the diagonal and pairwise number of shared Y-STR haplotypes (%) above the diagonal

Bydgoszcz Krakow Gdansk Wroclaw Warsaw Lublin Moscow Vilnius Riga Tartu Berlin Leipzig Budapest Rome Romany

Bydgoszcz – 23 (10.4) 30 (12.1) 27 (11.6) 39 (12.4) 7 (2.7) 14 (6.9) 20 (7.8) 19 (7.5) 14 (5.8) 21 (6.4) 26 (8.7) 20 (8.3) 6 (2.3) 1 (0.6)

Krakow –0.0041


– 17 (8.5) 16 (8.6) 23 (8.6) 9 (4.2) 13 (8.4) 10 (4.8) 11 (5.3) 10 (5.2) 15 (5.4) 17 (6.8) 14 (7.2) 6 (2.9) 1 (0.8)

Gdansk –0.0015




– 23 (10.9) 34 (11.6) 7 (2.9) 15 (8.3) 13 (5.5) 19 (8.2) 12 (5.5) 19 (6.3) 19 (6.9) 14 (6.4) 3 (1.3) 3 (2.1)

Wroclaw –0.0003






– 24 (8.6) 6 (2.7) 14 (8.4) 17 (7.7) 19 (8.7) 12 (5.9) 18 (6.2) 19 (7.3) 10 (4.9) 2 (0.9) 5 (3.8)

Warsaw –0.0038








– 9 (3.0) 19 (7.7) 21 (6.9) 20 (6.7) 13 (4.5) 27 (7.3) 35 (10.2) 23 (8.0) 6 (2.0) 3 (1.4)

Lublin –0.0039










– 6 (3.1) 6 (2.4) 8 (3.3) 6 (2.6) 7 (2.2) 6 (2.1) 5 (2.2) 1 (0.4) 2 (1.3)

Moscow 0.0366












– 12 (6.3) 11 (5.9) 13 (7.5) 15 (5.8) 10 (4.3) 11 (6.3) 1 (0.5) 3 (3.0)

Vilnius 0.0369














– 18 (7.4) 14 (6.1) 15 (4.8) 14 (4.9) 9 (3.9) 2 (0.8) 1 (0.6)

Riga 0.0292
















– 14 (6.2) 12 (3.9) 10 (4.9) 7 (3.1) 1 (0.4) 1 (0.7)

Tartu 0.1052


















– 8 (2.7) 8 (3.0) 9 (4.2) 2 (0.9) 5 (3.6)

Berlin 0.0528




















– 25 (7.0) 15 (5.0) 11 (3.5) 7 (3.0)

Leipzig 0.0708






















– 18 (6.6) 10 (3.5) 4 (2.0)

Budapest 0.1157
























– 8 (3.5) 6 (4.3)

Rome 0.2464


























– 2 (1.3)

Romany 0.2416




























aNon-significant RST values are bold and underlined (5% level), bold (1%), bold and italic (0.1%), or underlined (0.048% = 5% after Bonferroni correction for multiple tests)

vians or between the two German groups), at the 1% level

in 4 of 36 tests, and at the 0.1% level in 28 of 36 tests

(Table 4).

The relative distances among the populations studied

(as measured by pairwise RST-values) are displayed

graphically in Figs. 2 (as a neighbour-joining tree) and 3

(as a two-dimensional plot derived from multidimensional

scaling analysis). In both analyses all six Polish populations

are tightly clustered and separate from all non-Polish

populations. Lithuanians and Latvians appear closest to

the Polish populations; somewhat further away are Estonians,

Russians and Germans, whereas Hungarians and

Italians and the Baranya-Romanies are the furthest distant.


We analysed Y-STR haplotypes in six Polish populations

from different regions of the country (919 males) and nine

populations (1,273 males) from other European countries

(in total 2,191 individuals) in order to investigate the

amount of genetic heterogeneity and the degree of relatedness

among the Poles. Our data are consistent with the

assumption of genetic homogeneity of paternal lineages in

present-day Poland in respect to Y-STR haplotypes. This

is indicated by the AMOVA results, which show no molecular

variation among Polish populations, meaning almost

zero, and thus statistically non-significant (P>0.05), population

differentiation between the different Polish regions

according to pairwise RST, even though the sampled

regions are up to 1,000 km apart. The genetic homogeneity

of Polish paternal lineages revealed is most probably

due to a homogeneous genetic substrate of the ancestral

Slavic population, the loss of a considerable amount of

both major and minor “ethnic” groups from Poland’s ter-


Fig. 2 Neighbour-joining tree based on pairwise RST values from

Y-STR haplotypes of six Polish and nine additional European populations.

Polish populations are highlighted

Fig. 3 Two-dimensional plot

from multidimensional scaling

analysis based on pairwise RST

values from Y-STR haplotypes

of six Polish: Bydgoszcz

(BYD), Krakow (KRA), Gdansk

(GDA), Wroclaw (WRO), Warsaw

(WAR), Lublin (LUB), and

nine additional European populations:

Russians from Moscow

(RUS), Lithuanians from Vilnius

(LIT), Latvians from Riga

(LAT), Estonians from Tartu

(EST), Germans from Berlin

(BLN) and Leipzig (LPZ),

Hungarians from Budapest

(HUN), Romany from Hungary

(ROM), Italians from Rome

(ITA). Polish populations are


ritory after World War II, and/or the extensive mixing of

Poles after World War II due to politically forced resettlement.

The observed homogeneity of paternal lineages within

Poland contrasts strikingly with the revealed statistically

significant differences between the Polish and the vast

majority of non-Polish European populations studied. Evidence

for the distinctiveness of Polish paternal lineages

compared with other parts of Europe is also evident from

a comparison with a large database of European Y-STR

haplotypes (European YHRD). The most common Polish

haplotype from our study (41/919: 4.5%) occurs in only

21 out of 8,170 (0.29%) non-Polish Europeans from 62

different regions sampled in the European YHRD

http://www.ystr.org/europe as of February 2002. Similarly,

the second most common Polish Y-STR haplotype

(31/919: 3.4%) is found in 44 of the 8,170 non-Polish Europeans

(0.54%). On the other hand, the most common

non-Polish European Y-STR haplotype from YHRD

(284/8170: 3.5%), which was shared between 50 European

populations, was observed in only 6 out of 919 Poles

(0.65%), and the second common non-Polish European

haplotype (132/8170: 1.6%), shared between 41 European

populations, exists only in 4 out of 919 Poles (0.44%).

Our phylogenetic analyses suggest that populations

from Latvia and Lithuania were more closely related to

the Polish population than any other European groups

studied (Figs. 2, 3), although the small RST-values between

these and the Polish groups (0.0289–0.0581) were

statistically non-significant in only two pairwise comparisons.

These genetic similarities may be the result of admixture

due to geographical proximity and/or the tight political

links between these countries from the fourteenth to

the eighteenth century.

Population samples from Germany and Russia also

showed similarities to Polish populations, with relatively

small RST-values on pairwise comparisons (0.0176–

0.097). It is noteworthy that all but one of the comparisons

between the six Polish populations and the Russians

revealed statistically non-significant differences (0.05<

P>0.001). These genetic similarities are most probably a

result of the common Slavic origin. On the other hand,

small genetic distances between all of the Polish–German

population pairs were statistically significant (P<0.0001),

which might reflect the different background of Slavicspeaking

and German-speaking populations. The significant

differences revealed between Polish and German

samples are especially striking, since the two populations

have had close contact during the last millennium and

both have inhabited the territory of present-day Poland.

This demonstrates a continuous lack of admixture between

Germans and Poles, most probably for social, religious

and cultural reasons. Genetic difference between

Germans and Poles have been reported previously, based

on a 1-bp deletion at the Y-chromosomal marker M17

(haplotype Eu19; Semino et al. 2000), which has a high

frequency in Poles (56%) but a much lower frequency in

Germans (6%). However, other studies, using the Y-SNP

marker SRY-1532b (synonym SRY 10831b, haplogroup 3),

which characterises basically the same Y chromosome

lineage (Tyler-Smith 1999; Wheale et al. 2001; The Y Chromosome

Consortium 2002), have found a much higher

frequency of ~30% in larger samples from Germany (M.

Kayser, unpublished data; Rosser et al. 2000; Zerjal et al.

1999), which is still only about half the frequency in


The only two pairs of populations besides the Polish

groups that also show non-significant differentiation

based on the 5% significance level are the two German

populations from Berlin and Leipzig on the one hand and

the two Slavic-speaking Baltic populations, the Lithuanians

and Latvians on the other (RST: –0.0008, P>0.05 and

0.0032, P>0.05, respectively). The latter observation confirms

a previous finding based on independent Lithuanian

and Latvian population samples and using five Y-STRs

(Zerjal et al. 2001). Interestingly, we find comparatively

low population differentiation between the Uralic-speaking

Estonians and their Slavic-speaking western neighbours

the Latvians (RST = 0.0261; P=0.0016; a significant

difference of P<0.001 reported by Lessig et al. (2001) for

the same samples is based on fewer Y-STR loci), which is

in agreement with previously reported non-significant differences

between independent samples from Estonia and

Latvia (Zerjal et al. 2001). This might indicate male admixture

across linguistic borders, but contrasts with a genetic

boundary, which has been identified between Estonians

and Latvians based on Y-SNP haplogroup frequencies

(Zerjal et al. 2001). However, in the Y-STR-based

phylogenetic analyses of both studies, Estonians appear

somewhat distant from the Latvians. On the other hand,

highly significant differences (P<0.0001) were revealed

between the Estonians and all other geographic neighbours,

including the Russians, all Polish groups and also

the Lithuanians, a result that is in agreement with linguistic


Hungarians, Baranya-Romanies and Italians appeared

to be most distant from Polish and neighbouring populations

in all statistical analyses, reflecting their different

population history, geographic locations and linguistic affiliations.

Furthermore, our data indicate that the diversity of

Y-STR haplotypes in the Polish population is smaller than

in other European groups (except the Romany). Although

the haplotype diversity values were not significantly different

from each other, the mean number of pairwise differences

of the average Polish group was significantly

smaller than that of the average non-Polish group. The

mean number of pairwise differences might be seen as a

more appropriate measure of the diversity of Y-STR haplotypes,

since it takes account of the stepwise mutational

process of Y-STRs (Kayser et al. 2000a) by considering

the mutational distance between the haplotypes. Haplotype

diversity considers only the frequencies of the different

haplotypes and thus does not take account of how

much they differ from each other. The reduced diversity,

together with the observed genetic homogeneity within

Poland, could probably be explained by a potentially homogeneous

ancestral Slavic population. An alternative ex-


planation postulating a population bottleneck in Polish

history might be less plausible, since the largest historically

documented population contractions caused by wars

within the period 1648–1660 was only 25%. Furthermore,

populations who are widely assumed to have gone

through a bottleneck, such as the Finns or the Polynesians,

show a much more markedly reduced Y-STR diversity

than has been observed here for the Polish population,

with haplotype diversity values of 0.83 (from five

Y-STRs) for the Finns (Zerjal et al. 2001), and 0.81 and a

mean number of pairwise differences of 1.55 (from seven

Y-STRs) for the Cook Islanders from Polynesia (Kayser et

al. 2000b, 2001a).

Homogeneity of paternal lineages based on Y-STR

haplotypes as observed here between populations from

various Polish regions has also recently been found between

a large number of populations in central, western

and northern Europe, including 11 different regions of

Germany, 5 regions of Holland, 4 of Spain, 6 of Norway,

and also populations in Switzerland, Austria, Belgium,

and Portugal. All these populations show non-significant

.ST values, with P>0.05 in pairwise comparisons (Roewer

et al. 2001). Thus, the significant differentiation of Polish,

Baltic, and some other eastern European populations observed

here and elsewhere (Roewer et al. 2001) clearly

demonstrates a somewhat sharp change of paternal lineage

composition between the central and the eastern

parts of Europe, at least as identified by Y-STR haplotypes.

This most probably reflects the different history of

those regions and the distinctiveness of Slavic / Baltic and

other eastern European male lineages, e.g. those characterized

by the Y-SNP haplogroups 3 / Eu19 and 16 (Rosser

et al. 2000; Semino et al. 2000), compared with the rather

homogeneous central part of Europe.

In conclusion, this study provides the first comprehensive

Y chromosome analysis for Poland. Our data indicate

that in respect of Y-STR haplotypes the paternal lineages

of Poland are genetically rather homogeneous, whereas

comparisons with neighbouring populations show similarities

and differences that generally correlate well with the

geography and history of the region. It would be interesting

to include additional eastern European populations,

such as Ukrainians, Belarusians, Czechs and Slovaks in a

future study. The Y-STR haplotype data used in this study

will be included in the European YHRD

 http://www.ystr.org/europe allowing frequency estimation of Y-STR

haplotypes, and the raw data are available in the appendix.

Acknowledgements We thank Silke Brauer for expert technical

assistance, Sandor Füredi for an electronic version of published

Y-STR haplotype data, and Arkadiusz Soltysiak and Piotr Jaskulski

for helpful comments. General support from Mark Stoneking is

gratefully acknowledged, as is statistical advice from Gunter

Weiss. M.K. was supported by the Max Planck Society, M.W. by

the Ludwik Rydygier Medical University (grant number BW

75/01), and E.B. by the Wellcome Trust. M.A.J. is a Wellcome

Trust Senior Fellow in Basic Biomedical Science (grant no.

057559). Finally, we would like to express especial thanks to one

of our anonymous reviewers for constructive comments on an earlier

version of the manuscript.


Bosch E, Lee AC, Calafell F, Arroyo E, Henneman P, de Knijff P,

Jobling MA (2002) High-resolution Y chromosome typing: 19

STRs amplified in three multiplex reactions. Forensic Sci Int


Caglia A, Dobosz M, Boschi I, d’Aloja E, Pascali VL (1998) Increased

forensic efficiency of a STR-based Y-specific haplotype

by addition of the highly polymorphic DYS385 locus. Int

J Legal Med 111:142–146

de Knijff P, Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C,

Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M,

Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer

E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-

Lezaun A, Piccinini A, Prinz M, Roewer L (1997) Chromosome

Y microsatellites: population genetic and evolutionary

aspects. Int J Legal Med 110:134–149

Füredi S, Woller J, Padar Z, Angyal M (1999) Y-STR haplotyping

in two Hungarian populations. Int J Legal Med 113:38–42

Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G,

Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K,

Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich

W, Pandya A, Parson W, Penacino G, Perez-Lezaun A,

Piccinini A, Prinz M, Schmitt C, Roewer L (1997) Evaluation

of Y-chromosomal STRs: a multicenter study. Int J Legal Med


Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S,

Krüger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff

P, Stoneking M, Sajantila A (2000a) Characteristics and frequency

of germline mutations at microsatellite loci from the

human Y chromosome, as revealed by direct observation in father/

son pairs. Am J Hum Genet 66:1580–1588

Kayser M, Brauer S, Weiss G, Underhill P, Roewer L, Schiefenhövel

W, Stoneking M (2000b) Melanesian origin of Polynesian

Y chromosomes. Curr Biol 10:1237–1246

Kayser M, Brauer S, Weiss G, Underhill P, Roewer L, Schiefenhövel

W, Stoneking M (2001a) Correction: Melanesian origin

of Polynesian Y chromosomes. Curr Biol 11(2):I–II

Kayser M, Krawczak M, Excoffier L, Dieltjes P, Corach D, Pascali

V, Gehrig C, Bernini LF, Jespersen J, Bakker E, Roewer L, de

Knijff P (2001b) An extensive analysis of Y-chromosomal microsatellite

haplotypes in globally dispersed human populations.

Am J Hum Genet 68:990–1018

Kayser M, Brauer S, Willuweit S, Schädlich H, Batzer MA,

Zawacki J, Prinz M, Roewer L, Stoneking M (2002) Online

Y-chromosomal short tandem repeat haplotype reference database

(YHRD) for U.S. populations. J Forensic Sci 47(3):513–


Kupiec T, Branicki W, van Mersbergen C, van Hemert G, Kloosterman

A (2000) Population genetic study of Y chromosome specific

STR-Loci in a population sample from Southern Poland.

In: Sensabaugh GF, Lincoln PJ, Olaisen B (eds) Proceedings of

the 18th International ISFH Congress, San Francisco 1999.

(Progress in forensic genetics, vol 8) Elsevier Science, Amsterdam,

pp 312–314

Lessig R, Edelmann J, Krawczak M (2001) Population genetics of

Y-chromosomal microsatellites in Baltic males. Forensic Sci

Int 118:153–157

Portal R (1969) The Slavs: a cultural and historical survey of the

Slavonic peoples. Weidenfeld and Nicholson, London

Roewer L, Kayser M, Dieltjes P, Nagy M, Bakker E, Krawczak M,

de Knijff P (1996) Analysis of molecular variance (AMOVA)

of Y-chromosome-specific microsatellites in two closely related

human populations. Hum Mol Genet 5:1029–1033



Roewer L, Krawczak M, Willuweit S, Nagy M, Alves C, Amorim

A, Anslinger K, Augustin C, Betz A, Bosch E, Caglia A, Carracedo

A, Corach D, Dekairelle AF, Dobosz T, Dupuy BM,

Furedi S, Gehrig C, Gusmao L, Henke J, Henke L, Hidding M,

Hohoff C, Hoste B, Jobling MA, Kargel HJ, de Knijff P, Lessig

R, Liebeherr E, Lorente M, Martinez-Jarreta B, Nievas P,

Nowak M, Parson W, Pascali VL, Penacino G, Ploski R, Rolf

B, Sala A, Schmidt U, Schmitt C, Schneider PM, Szibor R,

Teifel-Greding J, Kayser M (2001) Online reference database

of European Y-chromosomal short tandem repeat (STR) haplotypes.

Forensic Sci Int 118:106–113

Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D,

Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G,

Beckamnn L, Bertranpetit J, Bosch E, Bradley DG, Brede G,

Cooper GC, Corte-Real HBSM, de Knijff P, Decorte R,

Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill

EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kravchenco

SA, Lavinha J, Livshits LA, Maria S, McElreavy K, Meitinger

TA, Melegh B, Mitchell RJ, Nicholson J, Norby S, Noveletto

A, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg

G, Prata MJ, Previdere C, Rajczy K, Roewer L, Rootsi S,

Rubinsztein DC, Saillard J, Santos FR, Shlumukova M, Stefanescu

G, Sykes BC, Tolun A, Villems R, Tyler-Smith C,

Jobling MA (2000) Y-chromosomal diversity within Europe is

clinal and influenced primarily by geography, rather than by

language. Am J Hum Genet 67:1526–1543

Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman

LE, De Benedictis G, Francalacci P, Kouvatsi A, Limborska S,

Marcikiae M, Maik A, Mika B, Primorac D, Santachiara-

Benerecetti AS, Cavalli-Sforza LL, Underhill PA (2000) The

genetic legacy of palaeolithic Homo sapiens sapiens in extant

Europeans: a Y chromosome perspective. Science 290:1155–


The Y Chromosome Consortium (2002) A nomenclature system

for the tree of human Y-chromosomal binary haplogroups.

Genome Res 12:339–348

Tyler-Smith C (1999) Y-chromosomal DNA markers. In: Papiha

SS, Deka R, Chakraborty R (eds) Genomic diversity: applications

in human population genetics, Kluwer Academic / Plenum

Publishers, New York, pp 65–73

Welch BL (1947) The generalization of “Student’s” problem when

several different population variances are unequal. Biometrika


Wheale ME, Yepiskoposyan L, Jager RF, Hovhannisyan N, Khudoyan

A, Burbage-Hall O, Bradman N, Thomas MG (2001)

Armenian Y chromosome haplotypes reveal strong regional

structure within a single ethno-national group. Hum Genet


Zerjal T, Pandya A, Santos FR, Adhikari R, Tarazona E, Kayser

M, Evgarof O, Singh L, Thanaraj K, Destro-Bisol G, Thomas

MG, Qamar R, Mehdi Q, Rosser ZH, Hurles ME, Jobling MA,

Tyler-Smith C (1999) The use of Y-chromosomal DNA variation

to investigate population history: recent male spread in

Asia and Europe. In: Papiha SS, Deka R, Chakraborty R (eds)

Genomic diversity: applications in human population genetics,

Kluwer Academic / Plenum Publishers, New York, pp 91–102

Zerjal T, Beckman L, Beckman G, Mikelsaar A-V, Krumina A,

Kucinska V, Hurles ME, Tyler-Smith C (2001) Geographical,

linguistic, and cultural influences on genetic diversity: Y-chromosomal

distribution in northern European populations. Mol

Biol Evol 18:1077–1087