Maternal genetic origin of the late and final Neolithic human populations from present-day Poland.

OBJECTIVE: We aim to identify maternal genetic affinities between the Middle to Final Neolithic (3850-2300 BC) populations from present-day Poland and possible genetic influences from the Pontic steppe. MATERIALS AND METHODS: We conducted ancient DNA studies from populations associated with Zlota, Globular Amphora, Funnel Beaker, and Corded Ware cultures (CWC). We sequenced genomic libraries on Illumina platform to generate 86 complete ancient mitochondrial genomes. Some of the samples were enriched for mitochondrial DNA using hybridization capture. RESULTS: The maternal genetic composition found in Zlota-associated individuals resembled that found in people associated with the Globular Amphora culture which indicates that both groups likely originated from the same maternal genetic background. Further, these two groups were closely related to the Funnel Beaker culture-associated population. None of these groups shared a close affinity to CWC-associated people. Haplogroup U4 was present only in the CWC group and absent in Zlota group, Globular Amphora, and Funnel Beaker cultures. DISCUSSION: The prevalence of mitochondrial haplogroups of Neolithic farmer origin identified in Early, Middle and Late Neolithic populations suggests a genetic continuity of these maternal lineages in the studied area. Although overlapping in time - and to some extent - in cultural expressions, none of the studied groups (Zlota, Globular Amphora, Funnel Beaker), shared a close genetic affinity to CWC-associated people, indicating a larger extent of cultural influence from the Pontic steppe than genetic exchange. The higher frequency of haplogroup U5b found in populations associated with Funnel Beaker, Globular Amphora, and Zlota cultures suggest a gradual maternal genetic influx from Mesolithic hunter-gatherers. Moreover, presence of haplogroup U4 in Corded Ware groups is most likely associated with the migrations from the Pontic steppe at the end of the Neolithic and supports the observed genetic distances.

VDR polymorphisms effect on bone mineral density in Polish postmenopausal women.

Purpose: Osteoporosis is the most widespread systemic disease of the skeleton. According to estimated data for Poland, it affects ca. 3 million people. Although the disease is multifactorial, with significant influence of environmental factors on the increase of the risk of its occurrence, genetic factors play an important role in its pathogenesis. The aim of this study was an analysis of the relation of the ApaI, BsmI and TaqI polymorphisms of the VDR gene, with bone mineral density measured in lumbar spine and/or in proximal femur in a group of polish women. Methods: The study included 135 women at the postmenopausal age from the area of central Poland. BMD was measured at the hip and/or at the lumbar spine, using dual-energy X-ray absorptiometry. The influence of the selected VDR genotypes on bone mineral density was studied using the ApaI, the BsmI and the TaqI restriction enzymes. Lifestyle information was obtained via questionnaire. Results: Women with the 'bb' genotype showed lower BMD values of the hip (Total BMD value) comparing to patients with 'BB' or 'Bb' genotypes. We did not observe similar correlation for the lumbar spine. The remaining polymorphisms (ApaI and TaqI) did not demonstrate a significant relation with the differentiation of the mean BMD values obtained from the hip nor from lumbar vertebrae. Conclusion: The present study has demonstrated that the BsmI polymorphism of the vitamin D receptor gene is a factor of bone mineral density changes in postmenopausal women from Poland.

Correction:Analysis of LCT-13910 genotypes and bone mineral density in ancient skeletal materials.

[This corrects the article DOI: 10.1371/journal.pone.0194966.].

Analysis of LCT-13910 genotypes and bone mineral density in ancient skeletal materials.

The relation of LCT-13910 genotypes and bone mineral density (BMD) has been the subject of modern-day human population studies, giving inconsistent results. In the present study we analyze for the first time a relation of LCT-13910 genotypes and BMD in historical skeletal individuals. Ancient population might be a model for testing this association due to elimination of non-natural factors affecting bone density. Among 22 medieval individuals from Sanok churchyard (South-Eastern Poland; dated from XIV to XVII c. AD) we identified 4 individuals with osteoporosis (mean BMD = 0.468 g/cm2, SD = 0.090), 10 individuals with osteopenia (mean BMD = 0.531 g/cm2, SD = 0.066) and 8 individuals with normal BMD values (mean BMD = 0,642 g/cm2, SD = 0.060). Analyses of BMD and LCT-13910 genotypes revealed that mean BMD was the highest (0.583 g/cm2, SD = 0.065) in the individuals with lactose tolerance genotypes (TT and CT). We also found possible association of lower BMD at the radius and CC genotypes due to higher but not statistically significant frequency of osteoporosis in the lactose intolerant group (p = 0.60). Statistically significant correlation was found between BMD and females aged 20-35 years, with tendency to reduce BMD with age (p = 0.02).