The participation of immigrants during early days in Poland of Piast's dynasty is a debated issue among archaeologists and anthropologists alike. Such hypotheses were formulated on the basis of, amongst others, the discovery of early medieval chamber graves characterized by construction features typical of the Scandinavian culture area. Archaeological and anthropological studies to date have not provided an unequivocal answer as to whether the individuals interred in those graves were autochthons who adopted a different burial rite, or perhaps immigrants from foreign lands. To characterize the gene pool of this population we analyzed the C/T allele of the nuclear gene LCT-13910 as well as fragments of the mitochondrial genome from individuals buried in very richly furnished chamber graves at the medieval cemetery in Pień. The obtained results for the nuclear allele and mtDNA do not corroborate the Scandinavian origin of the analyzed population. Moreover, we did not find haplogroup I, which is the one typical of populations that historically inhabited the north of Europe; and the frequency of the LCT-13910 T allele was similar to that of past and present Polish populations. On the other hand, we identified the atypical haplogroup C5c1, which suggests Asian origin of the studied individuals and confirms our previous reports concerning ancient human migrations from Asia to the territory of present-day Poland. While our findings do not conclusively disprove a Scandinavian lineage of the studied population, they certainly shed some new light on the origin of the individuals buried in chamber graves, which may be very different from the one initially proposed by archaeologists.
Background:
Autoimmune metabolic diseases generate numerous healthy and social problems. The possible association of SNPs in the ubiquitin-proteasome system (UPS) with human pathology is under intensive study.
Objective:
In the present study, the genetic variations in PSMB5 (rs11543947), PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827) and PSMA3 (rs2348071) UPS gene cluster was investigated in type 1 diabetes and healthy donors in the Polish population.
Methods:
The study comprised 105 patients with type 1 diabetes mellitus (T1DM) and 214 controls. All were genotyped by PCR and restriction digestion analysis or Sanger sequencing.
Results:
Rs1048990 and rs2348071 were found to be neutral to T1DM (p-value: 0.499 and 0.656, respectively). According to the multiple loci genotype (MLG) analysis, the major homozygote of the tested polymorphisms had a protective effect. The most common MLG in the T1DM group was characterised by simultaneous risk factors at rs11543947, rs2277460, rs2295826 and rs2295827 (p-value: <0.0001 vs. MGL1). Multiple locus haplotype analysis revealed a similar dependence, with common alleles at all tested loci demonstrating a protective effect, and the rare alleles increasing T1DM risk (p-value: <0.0001 vs. MLH1).
Conclusion:
Our study suggests that the proteasome gene polymorphisms rs11543947, rs2277460, rs2295826, and rs2295827 could be potential markers for T1DM susceptibility in the Polish population.
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