| 1. |
- Taal, H. Rob, et al.
(författare)
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Common variants at 12q15 and 12q24 are associated with infant head circumference
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 532-538
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Tidskriftsartikel (refereegranskat)abstract
- To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
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| 2. |
- Middeldorp, Christel M., et al.
(författare)
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The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia : design, results and future prospects
- 2019
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Ingår i: European Journal of Epidemiology. - : Springer Science and Business Media LLC. - 0393-2990 .- 1573-7284. ; 34:3, s. 279-300
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Tidskriftsartikel (refereegranskat)abstract
- The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.
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| 3. |
- Kehoe, Laura, et al.
(författare)
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Make EU trade with Brazil sustainable
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- van der Valk, Ralf J P, et al.
(författare)
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.
- 2015
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 24:4, s. 1155-68
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Tidskriftsartikel (refereegranskat)abstract
- Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 × 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; β = 0.046, SE = 0.008, P = 2.46 × 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 × 10(-4)) and adult height (N = 127 513; P = 1.45 × 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.
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| 5. |
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| 6. |
- Wessley, O, et al.
(författare)
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Final state effects in the X-ray absorption spectra of La0.7Sr0.3MnO3
- 2004
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Ingår i: Journal of Magnetism and Magnetic Materials. - : Elsevier BV. - 0304-8853. ; 272-276:3, s. 1780-1781
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Tidskriftsartikel (refereegranskat)abstract
- We present a comparison of theoretical calculations of the electronic structure of La0.7Sr0.3MnO3 with measurements of the unoccupied local density of states for Mn obtained from X-ray absorption spectroscopy (XAS). We compare two different theoretical calculations of the Mn XAS spectra, one based on the local spin density approximation (LSDA) and the other one based on an atomic Hartree–Fock calculation for the Mn ions. In the atomic calculation the solid state effects are introduced through a cubic crystal field where the crystal field strength is obtained from the LSDA calculation. It is found that the atomic calculations agree better with experimental data.
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| 7. |
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| 8. |
- Bergman, Olle, 1978, et al.
(författare)
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Association between amygdala reactivity and a dopamine transporter gene polymorphism.
- 2014
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Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- Essential for detection of relevant external stimuli and for fear processing, the amygdala is under modulatory influence of dopamine (DA). The DA transporter (DAT) is of fundamental importance for the regulation of DA transmission by mediating reuptake inactivation of extracellular DA. This study examined if a common functional variable number tandem repeat polymorphism in the 3' untranslated region of the DAT gene (SLC6A3) influences amygdala function during the processing of aversive emotional stimuli. Amygdala reactivity was examined by comparing regional cerebral blood flow, measured with positron emission tomography and [(15)O]water, during exposure to angry and neutral faces, respectively, in a Swedish sample comprising 32 patients with social anxiety disorder and 17 healthy volunteers. In a separate US sample, comprising 85 healthy volunteers studied with blood oxygen level-dependent functional magnetic resonance imaging, amygdala reactivity was assessed by comparing the activity during exposure to threatening faces and neutral geometric shapes, respectively. In both the Swedish and the US sample, 9-repeat carriers displayed higher amygdala reactivity than 10-repeat homozygotes. The results suggest that this polymorphism contributes to individual variability in amygdala reactivity.
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| 9. |
- Bjornsson, P., et al.
(författare)
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Lattice and charge excitations in La1-xSrxMnO3
- 2000
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Ingår i: Physical Review B Condensed Matter. - 0163-1829 .- 1095-3795. ; 61, s. 1193-1197
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Tidskriftsartikel (refereegranskat)abstract
- We employ inelastic Light scattering to study the dependence of the lattice and charge excitations in La1-xSrxMnO3 compounds on doping and temperature. The phonons reveal strong local lattice distortions in the paramagnetic state, which gradually vanish below the ferromagnetic transition. We identify charge excitations in the metallic state. They exhibit a dependence on the doping level and symmetry selection rules typical for a plasmonlike excitation. Their energy scale of 100 meV requires a low-carrier-density component of the plasma outlining the importance of electronic interactions in La1-xSrxMnO3.
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| 10. |
- Busson, P., et al.
(författare)
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Preparation of mesogen-functionalized dendrimers for second-order nonlinear optics
- 2002
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Ingår i: Macromolecules. - : American Chemical Society (ACS). - 0024-9297 .- 1520-5835. ; 35:5, s. 1663-1671
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Tidskriftsartikel (refereegranskat)abstract
- Liquid crystalline dendrimers with peripheral mesogen-containing units have been prepared. Multistep synthesis with several selective reactions was used in the preparation of the mesogen-containing molecules, 4-[10-(hydroxycarbonyl)decyloxy]phenyl 4-[4'-(2-(R)-octyloxy)-3'-nitrophenyl]benzo ate and 4-[10-(hydroxycarbonyl)decyloxy]biphenyl 4-[4'-(2-(R)-octyloxy)-3'-nitrophenyl]benzoate. Both molecules possessed an electron-accepting nitro group placed perpendicular to the long axis of the molecules in order to enhance the nonlinear optical activity. A second generation hydroxyl functional aliphatic dendrimer based on the dihydroxy acid, 2,2-bis(hydroxymethyl)propionic acid, was used as dendritic scaffold and was subsequently functionalized with the aforementioned groups. The purity and structure of the two liquid crystalline dendrimers were determined by H-1 NMR spectroscopy, size exclusion chromatography, and elemental analysis. The synthesis of both the mesogen-containing units and the liquid crystalline dendrimers is described in detail. Investigation of the liquid crystalline properties of the materials by differential scanning calorimetry and optical microscopy showed that they exhibited different mesophases, including the chiral smectic C phase. Ferroelectric switching was observed in this tilted phase, and electrooptical properties, including tilt angle and spontaneous polarization measurements, were investigated. Finally, the nonlinear optical properties of one of the materials were preliminary characterized.
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