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Sökning: WFRF:(Heikkinen T)

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21.
  • Allison, J, et al. (författare)
  • Geant4 developments and applications
  • 2006
  • Ingår i: IEEE TRANSACTIONS ON NUCLEAR SCIENCE. - 0018-9499. ; 53:1, s. 270-278
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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22.
  • Feitosa, Mary F., et al. (författare)
  • Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
  • 2018
  • Ingår i: PLOS ONE. - : Public library science. - 1932-6203. ; 13:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for gene-alcohol consumption interaction for BP might identify additional BP loci and contribute to the understanding of alcohol-related BP regulation. We conducted a large two-stage investigation incorporating joint testing of main genetic effects and single nucleotide variant (SNV)-alcohol consumption interactions. In Stage 1, genome-wide discovery meta-analyses in approximate to 131 K individuals across several ancestry groups yielded 3,514 SNVs (245 loci) with suggestive evidence of association (P <1.0 x 10(-5)). In Stage 2, these SNVs were tested for independent external replication in individuals across multiple ancestries. We identified and replicated (at Bonferroni correction threshold) five novel BP loci (380 SNVs in 21 genes) and 49 previously reported BP loci (2,159 SNVs in 109 genes) in European ancestry, and in multi-ancestry meta-analyses (P < 5.0 x 10(-8)). For African ancestry samples, we detected 18 potentially novel BP loci (P< 5.0 x 10(-8)) in Stage 1 that warrant further replication. Additionally, correlated meta-analysis identified eight novel BP loci (11 genes). Several genes in these loci (e.g., PINX1, GATA4, BLK, FTO and GABBR2 have been previously reported to be associated with alcohol consumption. These findings provide insights into the role of alcohol consumption in the genetic architecture of hypertension.
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28.
  • Hobbs, R. W., et al. (författare)
  • Integrated seismic studies of the Baltic shield using data in the Gulf of Bothnia region
  • 1993
  • Ingår i: Geophysical Journal International. - 0956-540X .- 1365-246X. ; 112:3, s. 305-324
  • Tidskriftsartikel (refereegranskat)abstract
    • In the autumn of 1989 a co-operative experiment involving 12 research institutions in northwestern Europe collected 2268 km of deep seismic reflection profiles in the Gulf of Bothnia and the Baltic Sea. the 121 litre airgun array used for this profiling was also recorded by 62 muiticomponent land stations to provide coincident refraction surveys, fan-spreads, and 3-D seismic coverage of much of the Gulf of Bothnia. We thus have potentially both high-resolution impedance contrast images as well as more regional 3-D velocity models in both P- and S-waves. In the Bothnian Bay a south-dipping, non-reflective zone coincides with the conductive Archaean-Proterozoic boundary onshore in Finland. Between the Bothnian Bay and Bothnian Sea observed reflectivity geometries and velocity models at Moho depths suggest structures inherited from a 1.9Ga subduction zone; the upper crust here appears to have anomalously low velocity. Within the Bothnian Sea, reflectivity varies considerably beneath the metasedimentary/granitoid rocks of the Central Svecofennian Province (CSP) and the surrounding metavolcanic-arc rocks. Numerous dipping reflectors appear throughout the metavolcanic crust, whereas the CSP has little reflectivity. Wide-angle reflections indicate that the metasedimentary crust of the Bothnian Basin is 10 km thicker than the neighbouring Svecofennian subprovinces. Near the Åland archipelago Rapakivi granite plutons exhibit bright reflections, a contrast to the usual non-reflective plutons elsewhere in western Europe. Additional dipping reflections deep in the crust of this area may support models of rifting and crustal thinning during emplacement of the 1.70-1.54 Ga Rapakivi granites. Coeval gabbroic/anorthositic magmatism may explain the high reflectivity and high velocity of these plutons. the c. 1.25 Ga mafic sills and feeder dykes of the Central Scandinavian Dolerite Group also produce clear reflections on both near- and far-offset seismic sections. Continued modelling will produce better velocity models of the crust and better constrained contour maps of crustal thickness in this part of the Baltic shield.
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29.
  • Horikoshi, Momoko, et al. (författare)
  • New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
  • 2013
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
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30.
  • Johnatty, S. E., et al. (författare)
  • No evidence that GATA3 rs570613 SNP modifies breast cancer risk
  • 2009
  • Ingår i: Breast Cancer Research and Treatment. - : Springer. - 0167-6806 .- 1573-7217. ; 117:2, s. 371-379
  • Tidskriftsartikel (refereegranskat)abstract
    • GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of progenitor cells, and has been suggested to have a tumor suppressor function. The rs570613 single nucleotide polymorphism (SNP) in intron 4 of GATA3 was previously found to be associated with a reduction in breast cancer risk in the Cancer Genetic Markers of Susceptibility project and in pooled analysis of two case-control studies from Norway and Poland (P trend = 0.004), with some evidence for a stronger association with estrogen receptor (ER) negative tumours [Garcia-Closas M et al. (2007) Cancer Epidemiol Biomarkers Prev 16:2269-2275]. We genotyped GATA3 rs570613 in 6,388 cases and 4,995 controls from the Breast Cancer Association Consortium (BCAC) and 5,617 BRCA1 and BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). We found no association between this SNP and breast cancer risk in BCAC cases overall (ORper-allele = 1.00, 95% CI 0.94-1.05), in ER negative BCAC cases (ORper-allele = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RRper-allele = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RRper-allele = 0.93, 95% CI 0.80-1.07). We conclude that there is no evidence that either GATA3 rs570613, or any variant in strong linkage disequilibrium with it, is associated with breast cancer risk in women. 
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