| 1. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 2. |
- Patterson, Nick, et al.
(författare)
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Large-scale migration into Britain during the Middle to Late Bronze Age
- 2022
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Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; , s. 588-594
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Tidskriftsartikel (refereegranskat)abstract
- Present-day people from England and Wales harbour more ancestry derived from Early European Farmers (EEF) than people of the Early Bronze Age1. To understand this, we generated genome-wide data from 793 individuals, increasing data from the Middle to Late Bronze and Iron Age in Britain by 12-fold, and Western and Central Europe by 3.5-fold. Between 1000 and 875 BC, EEF ancestry increased in southern Britain (England and Wales) but not northern Britain (Scotland) due to incorporation of migrants who arrived at this time and over previous centuries, and who were genetically most similar to ancient individuals from France. These migrants contributed about half the ancestry of Iron Age people of England and Wales, thereby creating a plausible vector for the spread of early Celtic languages into Britain. These patterns are part of a broader trend of EEF ancestry becoming more similar across central and western Europe in the Middle to Late Bronze Age, coincident with archaeological evidence of intensified cultural exchange2-6. There was comparatively less gene flow from continental Europe during the Iron Age, and Britain's independent genetic trajectory is also reflected in the rise of the allele conferring lactase persistence to ~50% by this time compared to ~7% in central Europe where it rose rapidly in frequency only a millennium later. This suggests that dairy products were used in qualitatively different ways in Britain and in central Europe over this period.
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| 3. |
- Roman, Diana, et al.
(författare)
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Mechanisms of Unrest and Eruption at Persistently Restless Volcanoes: Insights From the 2015 Eruption of Telica Volcano, Nicaragua
- 2019
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Ingår i: Geochemistry, Geophysics, Geosystems. - 1525-2027. ; 20:8, s. 4162-4183
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Tidskriftsartikel (refereegranskat)abstract
- Many of Earth's volcanoes experience well-defined states of “quiescence” and “unrest,” with unrest occasionally culminating in eruption. Some volcanoes, however, experience an unusually protracted (i.e., decades-long) period of noneruptive unrest and are thus categorized as “persistently restless volcanoes” (PRVs). The processes that drive persistently restless volcanism are poorly understood, as our knowledge of PRVs is currently based on a small number of case studies. Here we examine multidisciplinary observations of the 2015 eruptive episode at Telica Volcano, Nicaragua, in the context of its long-term behavior. We suggest that the latter phases of the 2015 eruption were ultimately driven by destabilization of its shallow magma reservoir. Based on previous geodetic-seismic studies of Telica (Geirsson et al., 2014, https://doi.org/10.1016/j.jvolgeores.2013.11.009; Rodgers et al., 2013, https://doi.org/10.1016/j.jvolgeores.2013.08.010 and 2015, https://doi.org/10.1016/j.jvolgeores.2014.11.012) and on multiparameter observations at Telica over a 7-year period, we propose that three distinct states of unrest occur at Telica over decadal timescales: a stable open state involving steady conduit convection and two distinct “unstable” states that may lead to eruptions. In the “weak sealing” state, phreatic explosions result from steady conduit convection underlying a weak seal. In the “destabilized” state, destabilization of the top of the convecting magma in the conduit leads to rapid accumulation of high pressures leading to strong/impulsive phreatomagmatic explosions. Our observations and interpretations suggest that continuous seismic, ground-based deformation, gas emission, and thermal monitoring and interpretation of these data within a paradigm of sustained conduit convection modulated by episodes of sealing and destabilization of shallow magma reservoirs may allow robust forecasting of eruption potential, energy, and duration at Telica and similar PRVs worldwide.
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