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Träfflista för sökning "WFRF:(Jonsdottir Gudrun A.) "

Sökning: WFRF:(Jonsdottir Gudrun A.)

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1.
  • Gudbjartsson, Daniel F., et al. (författare)
  • Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
  • 2009
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 41:3, s. 342-347
  • Tidskriftsartikel (refereegranskat)abstract
    • Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Icelanders. The most significant SNPs were studied further in 12,118 Europeans and 5,212 East Asians. SNPs at 2q12 (rs1420101), 2q13 (rs12619285), 3q21 (rs4857855), 5q31 (rs4143832) and 12q24 (rs3184504) reached genome-wide significance (P = 5.3 x 10(-14), 5.4 x 10(-10), 8.6 x 10(-17), 1.2 x 10(-10) and 6.5 x 10(-19), respectively). A SNP at IL1RL1 associated with asthma (P = 5.5 x 10(-12)) in a collection of ten different populations (7,996 cases and 44,890 controls). SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4.2 x 10(-6), 2.2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).
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2.
  • Sonderby, Ida E., et al. (författare)
  • Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
  • 2020
  • Ingår i: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:3, s. 584-602
  • Tidskriftsartikel (refereegranskat)abstract
    • Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.
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3.
  • Gisladottir, Rosa S, et al. (författare)
  • Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming.
  • 2020
  • Ingår i: Current biology : CB. - : Elsevier BV. - 1879-0445 .- 0960-9822. ; 30:23, s. 4643-4653.e3
  • Tidskriftsartikel (refereegranskat)abstract
    • Olfactory receptor (OR) genes in humans form a special class characterized by unusually high DNA sequence diversity, which should give rise to differences in perception and behavior. In the largest genome-wide association study to date based on olfactory testing, we investigated odor perception and naming with smell tasks performed by 9,122 Icelanders, with replication in a separate sample of 2,204 individuals. We discovered an association between a low-frequency missense variant in TAAR5 and reduced intensity rating of fish odor containing trimethylamine (p.Ser95Pro, pcombined = 5.6 × 10-15). We demonstrate that TAAR5 genotype affects aversion to fish odor, reflected by linguistic descriptions of the odor and pleasantness ratings. We also discovered common sequence variants in two canonical olfactory receptor loci that associate with increased intensity and naming of licorice odor (trans-anethole: lead variant p.Lys233Asn in OR6C70, pcombined = 8.8 × 10-16 and pcombined = 1.4 × 10-9) and enhanced naming of cinnamon (trans-cinnamaldehyde; intergenic variant rs317787-T, pcombined = 5.0 × 10-17). Together, our results show that TAAR5 genotype variation influences human odor responses and highlight that sequence diversity in canonical OR genes can lead to enhanced olfactory ability, in contrast to the view that greater tolerance for mutations in the human OR repertoire leads to diminished function.
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4.
  • Jónsdóttir, Guðrún Á. (författare)
  • Dynamics of seashore populations of Agrostis stolonifera, Festuca rubra and Poa irrigata
  • 1993
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • The dynamics of tillers of natural populations of three cohabiting perennial grass species Agrostis stolonifera, Festuca rubra and Poa irrigata were studied for five years in a Baltic seashore meadow. A demographic approach based on numerical changes over time was used. Analyses were made to determine the effects of temperature and precipitation and the effects of intraspecific and interspecific density of the species on rates of tiller birth and death were assessed. For A. stolonifera and F. rubra, temporal and spatial differences in vital rates were studied and consequences of that differences for long term population processes were studied by population matrix models. Competitive relationships between the three grasses were studied experimentally.Recruitment was mainly by vegetative tillers, produced continuously throughout the growing season. Rates of tiller birth and death were high, particularly in A. stolonifera consequently the life span of individual tiller was short. Considerable year -to-year was found in birth and death rates and the birth rates of tillers in all species were positively related to summer precipitation. Positive relationships were found between death and birth rates in F. rubra. In A. stolonifera the risk of tiller death was constant through the life but increased with age in the two other species. Most tillers of all species died for unknown reasons. Relationships between tiller death and density of tillers could not be confirmed nor could relationships between the rate of tiller death and weather functions. The proportion of flowering tillers was low in all species. Survival probabilities for tillers of A. stolonifera and F. rubra were not homogeneous in time or space and for that species the temporal and spatial variation in vital rates was large enough to have influences on long-term processes such as population growth rate. For A. stolonifera and F. rubra indications were fond that contribution of the youngest age class, through daughter tiller production, was of major importance to the population growth rate. All three species were affected by between species competition except F. rubra when grown as the more frequent component in mixture with P. irrigata. The pattern of interactions between the species was not influenced by initial density, but it was influenced by relative frequency of a species in mixture with another species.In this study a picture of everchangin tiller populations was found, turnover rate of tillers was high and considerable variation in vital rates was confirmed. For A. stolonifera and F. rubra mosaic of increasing an decreasing populations was found in time and space. Despite this the populations of each species remained relatively stable over the study period as a whole. 
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