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.
Introduction
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
Samples
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.
Results
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
593
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-
594
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 /
Wroclaw
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-
595
Table 2 Diversity of Y-STR
haplotypes based on nine loci
in six Polish and nine
additional
European populations
(N=2,191)
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
(AMOVA)a
aDistance method: sum of
squared size difference
between
Y-STR haplotypes (RST)
bExclusion of the Romany
group did not change the
results
significantly
Dataset Grouping Source of
variation Variation (%) Significance
(P-value)
All Polish regions No Among
populations 0 0.6338
Within populations 100
All non-Polish
regionsb
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
non-Polish
Among groups 4.6 0.0033
Among populations
within groups
5.8 <0.0001
Within populations 89.6
<0.0001
596
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
(0.7719)
– 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
(0.5228)
–0.0024
(0.5750)
– 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
(0.3949)
0.0103
(0.0722)
0.0078
(0.0871)
– 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
(0.9474)
–0.0049
(0.9367)
–0.0016
(0.5747)
0.0065
(0.0809)
– 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
(0.8419)
–0.0038
(0.7204)
–0.0050
(0.9365)
0.0016
(0.2873)
–0.0027
(0.7249)
– 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
(0.0016)
0.0176
(0.0343)
0.0272
(0.0058)
0.0709
(0.0000)
0.0241
(0.0053)
0.0305
(0.0037)
– 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
(0.0000)
0.0483
(0.0000)
0.0581
(0.0000)
0.0289
(0.0012)
0.0419
(0.0000)
0.0474
(0.0000)
0.0915
(0.0000)
– 18 (7.4) 14 (6.1) 15
(4.8) 14 (4.9) 9 (3.9) 2 (0.8) 1 (0.6)
Riga 0.0292
(0.0004)
0.0312
(0.0014)
0.0441
(0.0001)
0.0316
(0.0008)
0.0299
(0.0003)
0.0345
(0.0000)
0.0514
(0.0001)
0.0032
(0.1875)
– 14 (6.2) 12 (3.9) 10
(4.9) 7 (3.1) 1 (0.4) 1 (0.7)
Tartu 0.1052
(0.0000)
0.0987
(0.0000)
0.1217
(0.0000)
0.1193
(0.0000)
0.0990
(0.0000)
0.1111
(0.0000)
0.0839
(0.0000)
0.0532
(0.0000)
0.0261
(0.0016)
– 8 (2.7) 8 (3.0) 9
(4.2) 2 (0.9) 5 (3.6)
Berlin 0.0528
(0.0000)
0.0408
(0.0000)
0.0557
(0.0000)
0.0753
(0.0000)
0.0444
(0.0000)
0.0546
(0.0000)
0.0173
(0.0142)
0.0605
(0.0000)
0.0272
(0.0002)
0.0264
(0.0006)
– 25 (7.0) 15 (5.0) 11
(3.5) 7 (3.0)
Leipzig 0.0708
(0.0000)
0.0570
(0.0000)
0.0749
(0.0000)
0.0970
(0.0000)
0.0610
(0.0000)
0.0742
(0.0000)
0.0327
(0.0023)
0.0734
(0.0000)
0.0362
(0.0002)
0.0314
(0.0004)
–0.0008
(0.4953)
– 18 (6.6) 10 (3.5) 4
(2.0)
Budapest 0.1157
(0.0000)
0.0848
(0.0000)
0.0983
(0.0000)
0.1579
(0.0000)
0.0982
(0.0000)
0.1053
(0.0000)
0.0197
(0.0176)
0.1692
(0.0000)
0.1153
(0.0000)
0.1144
(0.0000)
0.0357
(0.0003)
0.0442
(0.0000)
– 8 (3.5) 6 (4.3)
Rome 0.2464
(0.0000)
0.2073
(0.0000)
0.2230
(0.0000)
0.2856
(0.0000)
0.2310
(0.0000)
0.2310
(0.0000)
0.1201
(0.0000)
0.2849
(0.0000)
0.2236
(0.0000)
0.1916
(0.0000)
0.1175
(0.0000)
0.1188
(0.0000)
0.0402
(0.0005)
– 2 (1.3)
Romany 0.2416
(0.0000)
0.1993
(0.0000)
0.2079
(0.0000)
0.2892
(0.0000)
0.2217
(0.0000)
0.2191
(0.0000)
0.1082
(0.0000)
0.3103
(0.0000)
0.2512
(0.0000)
0.2521
(0.0000)
0.1533
(0.0000)
0.1742
(0.0000)
0.0459
(0.0017)
0.0457
(0.0019)
–
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.
Discussion
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-
597
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
highlighted
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
Poland.
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
evidence.
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-
598
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.
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