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- Adamovic, Svetlana, 1965, et al.
(author)
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Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families
- 2008
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In: Genes and immunity. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 9:4, s. 364-367
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Journal article (peer-reviewed)abstract
- The first genome-wide association study performed in a UK coeliac disease (CD) case-control cohort revealed association with a linkage disequilibrium block containing the KIAA1109/Tenr/IL2/IL21 genes. Also recently, an association with a non-synonymous polymorphism in Fcitalic gammaRIIa (CD32a) was reported in CD with an unusually strong P-value. We aimed to replicate the reported associations with the single nucleotide polymorphisms rs13119723 A>G and rs6822844 G>T in the KIAA1109/Tenr/IL2/IL21 region and rs1801274 G>A in the Fcitalic gammaRIIa gene in a family sample consisting of 325 Swedish/Norwegian families using the robust transmission disequilibrium test. The family sample used in this study included 100 families with two or more children affected by CD and 225 families with one affected child. We could confirm significant association between the polymorphisms rs13119723 A>G and rs6822844 G>T located in the KIAA1109/Tenr/IL2/IL21 region and CD (P-value 0.001 and 0.002, respectively). However, we found no association with the Fcitalic gammaRIIa rs1801274 G>A polymorphism (P-value=0.3). In conclusion, our results support the KIAA1109/Tenr/IL2/IL21 region as a true CD susceptibility region.
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| 3. |
- Amundsen, S. S., et al.
(author)
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Association analysis of MYO9B gene polymorphisms with celiac disease in a Swedish/Norwegian cohort
- 2006
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In: Hum Immunol. - : Elsevier BV. - 0198-8859. ; 67:4-5, s. 341-5
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Journal article (peer-reviewed)abstract
- Association between myosin IXB (MYO9B) gene variants and celiac disease (CD) has been reported in a study of a Dutch cohort. Six single nucleotide polymorphisms (SNPs) within the 3' part of the MYO9B gene showed significant genetic association and formed an associated haplotype. The current study aimed to replicate these findings in a Swedish/Norwegian cohort. Genotyping of the three SNPs which tagged the associated haplotype was performed in a CD family dataset (n = 326) and in an additional set of healthy controls (n = 562). Although our material provided reasonable power to detect the previously observed association, we were unable to replicate association with these SNPs. Lack of reproducibility could be explained by no or negligible contribution of MYO9B to the genetic predisposition to CD in the Swedish/Norwegian population. Alternatively, it might be due to variable linkage disequilibria in distinct populations in the tested SNPs and a causative mutation yet to be identified or to false positive findings (type I error) in the Dutch study.
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- Karpman, D, et al.
(author)
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Platelet activation in hemolytic uremic syndrome
- 2006
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In: Seminars in Thrombosis and Hemostasis. - : Georg Thieme Verlag. - 0094-6176 .- 1098-9064. ; 32:2, s. 128-145
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Journal article (peer-reviewed)abstract
- Platelet consumption in platelet-fibrin aggregates leading to thrombocytopenia and small vessel obstruction are major features of the hemolytic uremic syndrome (HUS). Although thrombocytopenia has been correlated to poor prognosis, the mechanisms by which thrombocytopenia develops in HUS have not been completely elucidated. However, plausible explanations have been platelet contact with thrombogenic surfaces and/or direct contact with an aggregating agent. This article summarizes several mechanisms of platelet activation, interactions with leukocytes, chemokine release, complement activation, and antimicrobial defense. Specific mechanisms are outlined by which platelets may be activated, leading to thrombocytopenia during HUS. In diarrhea-associated HUS Shiga toxin has been shown to injure the endothelium, thus exposing the subendothelium, releasing tissue factor, and rendering the vessel wall prothrombotic. Shiga toxin also binds to and activates platelets. The toxin may activate endothelial cells and platelets simultaneously. In atypical HUS the alternative complement pathway is activated because of mutations in complement regulatory proteins. Mutated factor H does not bind to endothelium and platelets efficiently, enabling complement activation on these cells. In thrombotic thrombocytopenic purpura, intravascular platelet clotting Occurs due to dysfunction of the von Willebrand factor (VWF)-cleaving protease ADAMTS13. Thrombi are formed by binding of platelets to ultralarge VWF multimers.
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- Bjornvold, M., et al.
(author)
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FOXP3 polymorphisms in type 1 diabetes and coeliac disease
- 2006
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In: J Autoimmun. - : Elsevier BV. - 0896-8411. ; 27:2, s. 140-4
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Journal article (peer-reviewed)abstract
- The FOXP3 gene encodes a transcription factor thought to be essential for the development and function of T regulatory cells. Two previous studies have tested common polymorphisms in FOXP3 for association with type 1 diabetes (T1D) with conflicting results. The aim of our study was to see whether there is any evidence of association between the FOXP3 polymorphisms previously reported to be associated with T1D, in a Caucasian population regarding T1D and coeliac disease (CD). We further looked for evidence of interaction between FOXP3 polymorphisms and HLA-DR3 in conferring susceptibility to T1D. Initially, we analysed two microsatellites in the FOXP3 gene in 363 T1D nuclear families. Our results indicated an association between FOXP3 and T1D (global p=0.004) and a possible interaction between FOXP3 and the HLA-DR3-DQ2 susceptibility haplotype. We then genotyped an additional independent set of 826 T1D patients and 1459 controls as well as one CD dataset consisting of 325 families. A similar tendency was revealed in the CD family material (pnc=0.055 for the associated allele). On the other hand, we were unable to reproduce our initial findings in the T1D case-control dataset (global p=0.6). Our results suggest that the tested FOXP3 markers do not have any major impact on susceptibility for these diseases.
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- Chao, Yimin, et al.
(author)
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Evaporation and deposition of alkyl-capped silicon nanocrystals in ultrahigh vacuum
- 2007
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In: Nature Nanotechnology. - : Springer Science and Business Media LLC. - 1748-3395 .- 1748-3387. ; 2:8, s. 486-489
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Journal article (peer-reviewed)abstract
- Nanocrystals are under active investigation because of their interesting size- dependent properties(1,2) and potential applications(3-5). Silicon nanocrystals have been studied for possible uses in optoelectronics(6), and may be relevant to the understanding of natural processes such as lightning strikes(7). Gas-phase methods can be used to prepare nanocrystals, and mass spectrometric techniques have been used to analyse Au-8,(9) and CdSe clusters(10). However, it is difficult to study nanocrystals by such methods unless they are synthesized in the gas phase(11). In particular, pre-prepared nanocrystals are generally difficult to sublime without decomposition. Here we report the observation that films of alkyl-capped silicon nanocrystals evaporate upon heating in ultrahigh vacuum at 200 degrees C, and the vapour of intact nanocrystals can be collected on a variety of solid substrates. This effect may be useful for the controlled preparation of new quantum-confined silicon structures and could facilitate their mass spectroscopic study and size- selection(12).
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| 18. |
- Chao, Y, et al.
(author)
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Reactions and luminescence in passivated Si nanocrystallites induced by vacuum ultraviolet and soft-x-ray photons
- 2005
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In: Applied Physics Reviews. - : AIP Publishing. - 1931-9401. ; 98:4
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Journal article (peer-reviewed)abstract
- Alkyl-modified silicon nanocrystallites are efficient fluorophores which are of interest for fundamental spectroscopic studies and as luminescent probes in biology because of their stability in aqueous media. In this work we have investigated these particles using scanning tunneling microscopy, synchrotron-radiation excited photoemission, and x-ray excited optical luminescence (XEOL). During the course of illumination with 145-eV photons we have monitored the evolution of the Si2p core level and, in samples which have suffered prolonged atmospheric exposure, observed in real time the growth of an extra Si2p component attributed to in situ photoinduced oxidation of the Si nanocrystallites. XEOL reveals that two emission bands are active upon soft-x-ray photon excitation and that photoluminescence intensity decreases with photon exposure, which is attributed to charge trapping within the film.
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- Heiervang, Einar, et al.
(author)
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Psychiatric disorders in Norwegian 8- to 10-year-olds: an epidemiological survey of prevalence, risk factors, and service use.
- 2007
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In: Journal of the American Academy of Child and Adolescent Psychiatry. - : Elsevier BV. - 0890-8567 .- 1527-5418. ; 46:4, s. 438-447
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Journal article (peer-reviewed)abstract
- OBJECTIVE: The Bergen Child Study is a longitudinal study of child mental health from the city of Bergen, Norway. We present methods and results from the first wave of the study, focusing on prevalence of disorders, associations with risk factors, and the use of services. METHOD: The target population included all 9,430 children attending grades 2 to 4 in Bergen schools during the academic year 2002/2003. The main screening instrument was the Strengths and Difficulties Questionnaire, whereas diagnoses were based on the Development and Well-Being Assessment. Information about child and family risk factors and service use was also obtained in this second stage. RESULTS: In the first phase, the teacher Strengths and Difficulties Questionnaire was obtained for 9,155 (97%) of the target children and the matching parent Strengths and Difficulties Questionnaire for 6,297 (67%); 1,011 children (11%) were assessed with the Development and Well-Being Assessment in the second phase. The weighted prevalence for any DSM-IV psychiatric disorder was 7.0% (95% confidence interval 5.6%-8.5%). Disorders were associated with age, gender, learning difficulties, family type, and poverty. Although 75% of children with attention-deficit/hyperactivity disorder had been in contact with specialist mental health services, this was true for only 13% of those with pure emotional disorders. CONCLUSIONS: The overall prevalence of psychiatric disorders in children is relatively low in this Norwegian sample, when assessed with the Development and Well-Being Assessment. Children with emotional disorders have limited access to specialist services.
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