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Search: WFRF:(Khusnutdinova Elza) > (2010-2014)

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1.
  • Behar, Doron M., et al. (author)
  • The genome-wide structure of the Jewish people
  • 2010
  • In: Nature. - : Macmilan. - 0028-0836 .- 1476-4687. ; 466:7303, s. 238-242
  • Journal article (peer-reviewed)abstract
    • A comparison of genomic data from 14 Jewish communities across the world with data from 69 non-Jewish populations reveals a close relationship between most of today's Jews and non-Jewish populations from the Levant. This fits in with the idea that most contemporary Jews are descended from ancient Hebrew and Israelite residents of the Levant. By contrast, the Ethiopian and Indian Jewish communities cluster with neighbouring non-Jewish populations in Ethiopia and western India, respectively. This may be partly because a greater degree of genetic, religious and cultural crossover took place when the Jewish communities in these areas became established.
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2.
  • Estrada, Karol, et al. (author)
  • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
  • 2012
  • In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
  • Journal article (peer-reviewed)abstract
    • Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
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3.
  • Kirchhoff, Tomas, et al. (author)
  • Breast cancer risk and 6q22.33 : combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
  • 2012
  • In: PLOS ONE. - : Public library of science. - 1932-6203. ; 7:6
  • Journal article (peer-reviewed)abstract
    • Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
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4.
  • Lazaridis, Iosif, et al. (author)
  • Ancient human genomes suggest three ancestral populations for present-day Europeans
  • 2014
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 513:7518, s. 409-
  • Journal article (peer-reviewed)abstract
    • We sequenced the genomes of a similar to 7,000-year-old farmer from Germany and eight similar to 8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes(1-4) with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians(3), who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had similar to 44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.
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5.
  • Liu, Ching-Ti, et al. (author)
  • Assessment of gene-by-sex interaction effect on bone mineral density
  • 2012
  • In: Journal of Bone and Mineral Research. - : Wiley. - 1523-4681 .- 0884-0431. ; 27:10, s. 2051-2064
  • Journal article (peer-reviewed)abstract
    • Sexual dimorphism in various bone phenotypes, including bone mineral density (BMD), is widely observed; however, the extent to which genes explain these sex differences is unclear. To identify variants with different effects by sex, we examined gene-by-sex autosomal interactions genome-wide, and performed expression quantitative trait loci (eQTL) analysis and bioinformatics network analysis. We conducted an autosomal genome-wide meta-analysis of gene-by-sex interaction on lumbar spine (LS) and femoral neck (FN) BMD in 25,353 individuals from 8 cohorts. In a second stage, we followed up the 12 top single-nucleotide polymorphisms (SNPs; p?
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6.
  • Raghavan, Maanasa, et al. (author)
  • The genetic prehistory of the New World Arctic
  • 2014
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 345:6200, s. 1020-
  • Journal article (peer-reviewed)abstract
    • The New World Arctic, the last region of the Americas to be populated by humans, has a relatively well-researched archaeology, but an understanding of its genetic history is lacking. We present genome-wide sequence data from ancient and present-day humans from Greenland, Arctic Canada, Alaska, Aleutian Islands, and Siberia. We show that Paleo-Eskimos (similar to 3000 BCE to 1300 CE) represent a migration pulse into the Americas independent of both Native American and Inuit expansions. Furthermore, the genetic continuity characterizing the Paleo-Eskimo period was interrupted by the arrival of a new population, representing the ancestors of present-day Inuit, with evidence of past gene flow between these lineages. Despite periodic abandonment of major Arctic regions, a single Paleo-Eskimo metapopulation likely survived in near-isolation for more than 4000 years, only to vanish around 700 years ago.
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7.
  • Raghavan, Maanasa, et al. (author)
  • Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans
  • 2014
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 505:7481, s. 87-
  • Journal article (peer-reviewed)abstract
    • The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians(1-3), there is no consensus with regard to which specific Old World populations they are closest to(4-8). Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-central Siberia(9), to an average depth of 1x. To our knowledge this is the oldest anatomically modern human genome reported to date. The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers(10-12), and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages(5). Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians(2,13). Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago(14), revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.
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8.
  • Yunusbayev, Bayazit, et al. (author)
  • The Caucasus as an Asymmetric Semipermeable Barrier to Ancient Human Migrations
  • 2011
  • In: Molecular biology and evolution. - : Oxford University Press. - 0737-4038 .- 1537-1719. ; 29:1, s. 359-365
  • Journal article (peer-reviewed)abstract
    • The Caucasus, inhabited by modern humans since the Early Upper Paleolithic and known for its linguistic diversity, is considered to be important for understanding human dispersals and genetic diversity in Eurasia. We report a synthesis of autosomal, Y chromosome, and mitochondrial DNA (mtDNA) variation in populations from all major subregions and linguistic phyla of the area. Autosomal genome variation in the Caucasus reveals significant genetic uniformity among its ethnically and linguistically diverse populations and is consistent with predominantly Near/Middle Eastern origin of the Caucasians, with minor external impacts. In contrast to autosomal and mtDNA variation, signals of regional Y chromosome founder effects distinguish the eastern from western North Caucasians. Genetic discontinuity between the North Caucasus and the East European Plain contrasts with continuity through Anatolia and the Balkans, suggesting major routes of ancient gene flows and admixture. 
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  • Result 1-8 of 8
Type of publication
journal article (8)
Type of content
peer-reviewed (8)
Author/Editor
Khusnutdinova, Elza (5)
Metspalu, Mait (5)
Villems, Richard (5)
Metspalu, Ene (4)
Rootsi, Siiri (3)
Khusnutdinova, Elza ... (3)
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Balanovsky, Oleg (3)
Karlsson, Magnus (2)
Vandenput, Liesbeth, ... (2)
Lorentzon, Mattias, ... (2)
Ohlsson, Claes, 1965 (2)
Kwan, Tony (2)
Pastinen, Tomi (2)
Eriksson, Joel (2)
Amin, Najaf (2)
Thorleifsson, Gudmar (2)
Thorsteinsdottir, Un ... (2)
Stefansson, Kari (2)
Rotter, Jerome I. (2)
Zhu, Kun (2)
Mellström, Dan, 1945 (2)
Oostra, Ben A. (2)
Rasmussen, Simon (2)
Nielsen, Rasmus (2)
Willerslev, Eske (2)
Yepiskoposyan, Levon (2)
Orlando, Ludovic (2)
Grundberg, Elin (2)
Hsu, Yi-Hsiang (2)
Jakobsson, Mattias (2)
Brandi, Maria Luisa (2)
Zillikens, M. Carola (2)
Rivadeneira, Fernand ... (2)
Harris, Tamara B (2)
Liu, Yongmei (2)
Hofman, Albert (2)
Psaty, Bruce M (2)
Cupples, L. Adrienne (2)
Mitchell, Braxton D. (2)
Richards, J. Brent (2)
Raghavan, Maanasa (2)
Ioannidis, John P. A ... (2)
Kiel, Douglas P. (2)
Karasik, David (2)
Comas, David (2)
Behar, Doron M. (2)
Yunusbayev, Bayazit (2)
Kutuev, Ildus (2)
Skoglund, Pontus (2)
Li, Guo (2)
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University
Uppsala University (5)
Lund University (3)
University of Gothenburg (2)
Umeå University (2)
Stockholm University (2)
Linköping University (1)
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Karolinska Institutet (1)
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Language
English (8)
Research subject (UKÄ/SCB)
Medical and Health Sciences (3)
Humanities (2)
Natural sciences (1)

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