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1.
  • Allentoft, Morten E., et al. (författare)
  • Population genomics of post-glacial western Eurasia
  • 2024
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 625:7994, s. 301-311
  • Tidskriftsartikel (refereegranskat)abstract
    • Western Eurasia witnessed several large-scale human migrations during the Holocene1–5. Here, to investigate the cross-continental effects of these migrations, we shotgun-sequenced 317 genomes—mainly from the Mesolithic and Neolithic periods—from across northern and western Eurasia. These were imputed alongside published data to obtain diploid genotypes from more than 1,600 ancient humans. Our analyses revealed a ‘great divide’ genomic boundary extending from the Black Sea to the Baltic. Mesolithic hunter-gatherers were highly genetically differentiated east and west of this zone, and the effect of the neolithization was equally disparate. Large-scale ancestry shifts occurred in the west as farming was introduced, including near-total replacement of hunter-gatherers in many areas, whereas no substantial ancestry shifts happened east of the zone during the same period. Similarly, relatedness decreased in the west from the Neolithic transition onwards, whereas, east of the Urals, relatedness remained high until around 4,000 bp, consistent with the persistence of localized groups of hunter-gatherers. The boundary dissolved when Yamnaya-related ancestry spread across western Eurasia around 5,000 bp, resulting in a second major turnover that reached most parts of Europe within a 1,000-year span. The genetic origin and fate of the Yamnaya have remained elusive, but we show that hunter-gatherers from the Middle Don region contributed ancestry to them. Yamnaya groups later admixed with individuals associated with the Globular Amphora culture before expanding into Europe. Similar turnovers occurred in western Siberia, where we report new genomic data from a ‘Neolithic steppe’ cline spanning the Siberian forest steppe to Lake Baikal. These prehistoric migrations had profound and lasting effects on the genetic diversity of Eurasian populations.
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  • Barrie, William, et al. (författare)
  • Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations
  • 2024
  • Ingår i: NATURE. - 0028-0836 .- 1476-4687. ; 625:7994
  • Tidskriftsartikel (refereegranskat)abstract
    • Multiple sclerosis (MS) is a neuro-inflammatory and neurodegenerative disease that is most prevalent in Northern Europe. Although it is known that inherited risk for MS is located within or in close proximity to immune-related genes, it is unknown when, where and how this genetic risk originated1. Here, by using a large ancient genome dataset from the Mesolithic period to the Bronze Age2, along with new Medieval and post-Medieval genomes, we show that the genetic risk for MS rose among pastoralists from the Pontic steppe and was brought into Europe by the Yamnaya-related migration approximately 5,000 years ago. We further show that these MS-associated immunogenetic variants underwent positive selection both within the steppe population and later in Europe, probably driven by pathogenic challenges coinciding with changes in diet, lifestyle and population density. This study highlights the critical importance of the Neolithic period and Bronze Age as determinants of modern immune responses and their subsequent effect on the risk of developing MS in a changing environment. Analysis of a large ancient genome dataset shows that genetic risk for multiple sclerosis rose in steppe pastoralists, providing insight into how genetic ancestry from the Neolithic and Bronze Age has shaped modern immune responses.
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4.
  • Bjermo, Helena, et al. (författare)
  • Lead, mercury, and cadmium in blood and their relation to diet among Swedish adults
  • 2013
  • Ingår i: Food and Chemical Toxicology. - : Elsevier BV. - 0278-6915. ; 57, s. 161-9
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim of the present study was to examine the body burden of lead (Pb), mercury (Hg), and cadmium (Cd) in blood among Swedish adults and the association between blood levels, diet and other lifestyle factors. The study was based on a subgroup (n = 273) of the national survey Riksmaten 2010-2011 (4-day food records and questionnaire). Lead, Hg, and Cd were measured in whole blood, and Cd additionally in urine, by mass or fluorescence spectrometry methods. The median values (5-95th percentiles) of the metals in blood were as follows: Pb: 13.4 (5.8-28.6) mu g/L, Hg: 1.13 (0.31-3.45) mu g/L, and Cd: 0.19 (0.09-1.08) mu g/L. All three metals increased with increasing age. Lead levels in blood were positively associated with intakes of game and alcohol, Hg was related to fish intake, and blood Cd related to smoking and low iron stores and to a low meat intake. Body burdens of the studied metals were generally below health based reference values, but several individuals had blood Pb levels above the reference point for possible nephrotoxic and developmental neurotoxic effects. As health effects cannot be excluded, individuals with high Pb exposure should aim at decreasing their body burden, both from food and from other exposure routes. (c) 2013 Elsevier Ltd. All rights reserved.
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5.
  • Blomstrand, Lena, et al. (författare)
  • Telemedicine : a complement to traditional referrals in oral medicine
  • 2012
  • Ingår i: Telemedicine journal and e-health. - : Mary Ann Liebert Inc. - 1530-5627 .- 1556-3669. ; 18:7, s. 549-553
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction:Introducing telemedicine into clinical practice has not been without difficulties. Within the framework of the European Union project "Health Optimum," telemedicine consultations with specialists at the Department of Oral & Maxillofacial Surgery at Uppsala University Hospital (Uppsala, Sweden) have been offered to dentists in the public dental health service. The aim is to streamline the consultation process, improve/develop the skills of the participating dentists and dental hygienists, and save time and money for patients, healthcare authorities, and society.Subjects and Methods:Patient records are collected in a database for demonstration and discussion, and the system is also available for referrals. Both medical and dental photographs and x-rays are digitized in the same system. These can be viewed during telemedicine rounds and by the consultants at the hospital prior to a consultation. Secure, interactive conferencing software is used, which provides a quick, easy, and effective way to share video and data over the Internet. Both parties can demonstrate different parts of an image using a pointer or a drawing system. Conference phones are presently used for verbal communication.Results:Ten patients were discussed during telemedicine rounds (3 males and 7 females), all of whom would normally have been referred to a specialist. As a result of the telemedicine round, 2 were referred to a specialist, whereas diagnoses were made for the other 8, and treatment was suggested. The dental health clinic could thus provide treatment without the need for referral to a consultant.Conclusions:The telemedicine system described here allows patient care to be provided rapidly and more economically. Future plans include "live" rounds using a videocamera, providing the possibility to relay real-time information about the intraoral situation. A camera is being developed and should preferably be permanently installed chair side.
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6.
  • Hillbertz, Nicolette Salmon, et al. (författare)
  • Viral and Molecular Aspects of Oral Cancer
  • 2012
  • Ingår i: Anticancer Research. - 0250-7005 .- 1791-7530. ; 32:10, s. 4201-4212
  • Forskningsöversikt (refereegranskat)abstract
    • Squamous cell carcinoma (SCC) is the most common epithelial malignancy in the oral cavity. SCCs and their variants constitute over 90% of oral malignancies, and the disease is associated with poor prognosis. OSCC is a complex malignancy where environmental factors, virus infections, and genetic alterations most likely interact, and thus give rise to the malignant condition. Herein, we review the available literature regarding high-risk factors such as alcohol and tobacco usage; discuss the roles of human papillomaviruses (HPV), the Epstein-Barr virus, and the human herpes simplex virus (HSV); and evaluate several candidate genes associated with the condition: p53, p16(INK4) and p21(WAF1/CIP1) survivin, B-cell lymphoma-2 (BCL-2), keratins, Fibroblast growth factor 3 (FGF3), FGF4, FGF19, Oral cancer overexpressed gene 1 (ORAOV1), and Cyclin D1 (CCND1).
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7.
  • Hirsch, Jan-Michael, et al. (författare)
  • Oral Cancer in Swedish Snuff Dippers
  • 2012
  • Ingår i: Anticancer Research. - 0250-7005 .- 1791-7530. ; 32:8, s. 3327-3330
  • Tidskriftsartikel (refereegranskat)abstract
    • Over recent decades there has been debate over whether or not Swedish snuff is carcinogenic in humans. Animal studies and molecular biological and experimental studies have shown the carcinogenic potential of Swedish snuff, but this has not been proved in prospective randomized studies. We present a case series of patients with oral squamous cell carcinomas diagnosed at the sites where the patients had used Swedish snuff for several years. Sixteen male patients were referred to and treated at Oral and Maxillofacial Surgery Departments and Ear, Nose and Throat clinics at seven different hospitals in Sweden. The mean age of the patients at the time of diagnosis was 72.9 years and the mean time of snuff use prior to cancer diagnosis was 42.9 years. This case series shows that Swedish snuff may not be a harmless alternative to smoking.
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9.
  • Hirsch, JM, et al. (författare)
  • Screening kan minska insjuknade i munhålecancer
  • 2017
  • Ingår i: Tandläkartidningen. - 0039-6982. ; 2017:9, s. 50-53
  • Forskningsöversikt (refereegranskat)abstract
    • Oral cancer har hög morbiditet och mortalitet om den inte upptäcks i tid och antalet sjukdomsfall ökar. Ett nationellt program för screening av munhålan skulle kunna minska antalet cancerfall betydligt, eftersom en stor del av cancerfallen orsakas av miljö- och livsstilsfaktorer. Tobak, alkohol och dålig tandhälsa är några av riskfaktorerna.
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10.
  • Iversen, Lars Lönnsman, et al. (författare)
  • Sexual conflict and intrasexual polymorphism promote assortative mating and halt population differentiation
  • 2019
  • Ingår i: Proceedings of the Royal Society of London. Biological Sciences. - : The Royal Society. - 0962-8452 .- 1471-2954. ; 286, s. 1-8
  • Tidskriftsartikel (refereegranskat)abstract
    • Sexual conflict is thought to be an important evolutionary force in drivingphenotypic diversification, population divergence, and speciation. However,empirical evidence is inconsistent with the generality that sexual conflictenhances population divergence. Here, we demonstrate an alternativeevolutionary outcome in which sexual conflict plays a conservative role inmaintaining male and female polymorphisms locally, rather than promotingpopulation divergence. In diving beetles, female polymorphisms haveevolved in response to male mating harassment and sexual conflict. We presentthe first empirical evidence that this female polymorphism is associatedwith (i) two distinct and sympatric male morphological mating clusters(morphs) and (ii) assortative mating between male and female morphs.Changes in mating traits in one sex led to a predictable change in the othersex which leads to predictable within-population evolutionary dynamics inmale and female morph frequencies. Our results reveal that sexual conflictcan lead to assortative mating between male offence and female defencetraits, if a stable male and female mating polymorphisms are maintained.Stable male and female mating polymorphisms are an alternative outcometo an accelerating coevolutionary arms race driven by sexual conflict. Suchstable polymorphisms challenge the common view of sexual conflict as anengine of rapid speciation via exaggerated coevolution between sexes.
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