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Sökning: WFRF:(Ikonen M) > (2015-2019)

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1.
  • Surakka, Ida, et al. (författare)
  • The impact of low-frequency and rare variants on lipid levels.
  • 2015
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:6, s. 589-597
  • Tidskriftsartikel (refereegranskat)abstract
    • Using a genome-wide screen of 9.6 million genetic variants achieved through 1000 Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 loci, including 79 previously identified loci with new lead SNPs and 10 new loci, 15 loci with a low-frequency lead SNP and 10 loci with a missense lead SNP, and 2 loci with an accumulation of rare variants. In six loci, SNPs with established function in lipid genetics (CELSR2, GCKR, LIPC and APOE) or candidate missense mutations with predicted damaging function (CD300LG and TM6SF2) explained the locus associations. The low-frequency variants increased the proportion of variance explained, particularly for low-density lipoprotein cholesterol and total cholesterol. Altogether, our results highlight the impact of low-frequency variants in complex traits and show that imputation offers a cost-effective alternative to resequencing.
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2.
  • Muuri, E., et al. (författare)
  • Behavior of Cs in Grimsel granodiorite: sorption on main minerals and crushed rock
  • 2016
  • Ingår i: Radiochimica Acta. - : Walter de Gruyter GmbH. - 0033-8230 .- 2193-3405. ; 104:8, s. 575-582
  • Tidskriftsartikel (refereegranskat)abstract
    • In this study the sorption of cesium was investigated on four different minerals; quartz, plagioclase, potassium feldspar and biotite as well as granodiorite obtained from the Grimsel test site in Switzerland. The experiments were conducted in the presence of the weakly saline Grimsel groundwater simulant by determining the distribution coefficients using batch sorption experiments and PHREEQC-modelling across a large concentration range. In addition, the purity of the minerals was measured by XRD and the specific surface areas by BET method using krypton. The distribution coefficients of cesium were largest on biotite (0.304 +/- 0.005 m(3)/kg in 10(-8) M). Furthermore, the sorption of cesium on quartz was found to be negligibly small in all investigated concentrations and the sorption of cesium on potassium feldspar and plagioclase showed similar behavior against a concentration isotherm with distribution coefficients of 0.0368 +/- 0.0004 m(3)/kg and 0.18 +/- 0.04 m(3)/kg in 10(-8) M. Finally, cesium sorption behavior on crushed granodiorite followed the trend of one of its most abundant mineral, plagioclase with distribution coefficient values of 0.107 +/- 0.003m(3)/kg in 10-8 M. At low concentrations (< 1.0 . 10(-6) M) cesium was sorbed on the frayed edge sites of biotite and once these sites are fully occupied cesium sorbs additionally to the Type II and Planar sites. As a consequence, the sorption of cesium on biotite is decreased at concentrations > 1.0 . 10(-6) M. Secondly cesium sorption on potassium feldspar and plagioclase showed similar non-linear behavior with varying concentration. The results were used to assist the interpretation of cesium diffusion process in the 2.5 year in-situ experiment carried out in the underground laboratory at Grimsel test site in Switzerland (2007-2009).
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