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- 2017
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Ingår i: Physical Review D. - 2470-0010 .- 2470-0029. ; 96:2
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Tidskriftsartikel (refereegranskat)
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 6. |
- Lawrenson, Kate, et al.
(författare)
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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
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| 7. |
- Muhlemann, B., et al.
(författare)
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Ancient hepatitis B viruses from the Bronze Age to the Medieval period
- 2018
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 557:7705, s. 418-423
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Tidskriftsartikel (refereegranskat)abstract
- Hepatitis B virus (HBV) is a major cause of human hepatitis. There is considerable uncertainty about the timescale of its evolution and its association with humans. Here we present 12 full or partial ancient HBV genomes that are between approximately 0.8 and 4.5 thousand years old. The ancient sequences group either within or in a sister relationship with extant human or other ape HBV clades. Generally, the genome properties follow those of modern HBV. The root of the HBV tree is projected to between 8.6 and 20.9 thousand years ago, and we estimate a substitution rate of 8.04 x 10(-6-)1.51 x 10(-5) nucleotide substitutions per site per year. In several cases, the geographical locations of the ancient genotypes do not match present-day distributions. Genotypes that today are typical of Africa and Asia, and a subgenotype from India, are shown to have an early Eurasian presence. The geographical and temporal patterns that we observe in ancient and modern HBV genotypes are compatible with well-documented human migrations during the Bronze and Iron Ages(1,2). We provide evidence for the creation of HBV genotype A via recombination, and for a long-term association of modern HBV genotypes with humans, including the discovery of a human genotype that is now extinct. These data expose a complexity of HBV evolution that is not evident when considering modern sequences alone.
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| 8. |
- Bergerbrant, Sophie, 1968, et al.
(författare)
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Identifying commoners in the Bronze Age: burials outside barrows
- 2017
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Ingår i: New Perspectives on the Bronze Age: Proceedings from the 13th Nordic Bronze Age Symposium, held in Gothenburg 9th June to 13th June 2015. - Oxford : Archaeopress. - 9781784915988 ; , s. 37-64
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- This article discusses the possibility of social division and the presence of commoners in south Scandinavia during the Early Bronze Age. The discussion is based on new scientific and archaeological data generated in the project Travels, transmissions and transformations in temperate northern Europe during the 3rd and 2nd millennium BC: The rise of Bronze Age societies. Based on a comprehensive radiocarbon dating program, we were able to re-assign many skeletons, previously assumed to be Late Neolithic, to the Bronze Age. This accounted for a significant proportion of non-elite burials (including those of children) that had previously been ‘mysteriously’ missing in the archaeological Bronze Age record. Moreover, strontium isotope analyses reveal that individuals seem to be mobile regardless of their wealth status and burial rituals. It suggests a society where workers and perhaps even nonfree labourers were mobile, not only the elite segment.
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| 9. |
- Bäckström, Ylva, et al.
(författare)
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Social Identity and Mobility at a Pre-industrial Mining Complex, Sweden
- 2016
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Ingår i: Journal of Archaeological Science. - : Elsevier BV. - 1095-9238 .- 0305-4403. ; 66, s. 154-168
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Tidskriftsartikel (refereegranskat)abstract
- The early modern period has so far received little attention from archaeologists and anthropologists in Sweden. This study explores demographic patterns, social differences, family structure and mobility in a 16th-century skeletal population (n=102) from a preindustrial mining community (Salberget) in Bergslagen, Sweden, using a bioarchaeological perspective. Methodologically, the results of strontium and oxygen isotope analysis in tooth enamel (n=38) were added to archaeological, anthropological and documentary evidence to detect demographic and/or social differences in mobility. Historical documents provided some indications of the kinds of people working at the mine. Archaeological evidence indicated two distinct grave types and the anthropological analysis documented differences in the age and sex of these individuals. The analysis of strontium, oxygen and carbon isotopes in teeth was used to infer possible place of origin information about these individuals. Various lines of evidence suggest that the cemetery held a mix of family groups, foreign workers and prisoners of war, all associated with the Sala silver mine. Together, the archaeology, osteology and isotope chemistry confirmed the documentary evidence of internal and external migration in the region. Furthermore, this study displays signs of matrilocality and a socially stratified society.
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| 10. |
- Frei, Karin M, et al.
(författare)
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Mapping human mobility during the third and second millennia BC in present-day Denmark
- 2019
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 14:8
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Tidskriftsartikel (refereegranskat)abstract
- We present results of the largest multidisciplinary human mobility investigation to date of skeletal remains from present-day Denmark encompassing the 3rd and 2nd millennia BC. Through a multi-analytical approach based on 88 individuals from 37 different archaeological localities in which we combine strontium isotope and radiocarbon analyses together with anthropological investigations, we explore whether there are significant changes in human mobility patterns during this period. Overall, our data suggest that mobility of people seems to have been continuous throughout the 3rd and 2nd millennia BC. However, our data also indicate a clear shift in mobility patterns from around 1600 BC onwards, with a larger variation in the geographical origin of the migrants, and potentially including more distant regions. This shift occurred during a transition period at the beginning of the Nordic Bronze Age at a time when society flourished, expanded and experienced an unprecedented economic growth, suggesting that these aspects were closely related.
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