| 1. |
- Castensson, Anja, et al.
(författare)
-
Serotonin Receptor 2C (HTR2C) and Schizophrenia : Examination of Possible Medication and Genetic Influences on Expression Levels
- 2005
-
Ingår i: American Journal of Medical Genetics. - : Wiley. - 0148-7299 .- 1096-8628. ; 134B, s. 84-89
-
Tidskriftsartikel (refereegranskat)abstract
- The serotonin receptor 2C (HTR2C) gene is of interest in schizophrenia due to its involvement in regulation of dopamine activity in the prefrontal cortex. We have previously reported a decreased expression of HTR2C mRNA levels in the prefrontal cortex of schizophrenia patients. The variability in mRNA expression levels is evaluated here more closely in relation to promoter haplotypes and neuroleptic treatment received by the patients. The decrease in HTR2C mRNA was present in neuroleptic treated individuals and in patients untreated at death, indicating that the lower expression is not a short-term medication effect. Three promoter polymorphisms were used to construct haplotypes. No SNP displayed genotypic or haplotypic association with the disease. Gene expression of HTR2C was not affected by haplotype and the expression decrease in schizophrenia patients was similar in all haplotype combinations (diplotypes). We conclude that the decrease in HTR2C expression in schizophrenia may be related to the disease mechanism rather than to drug treatment. The disease related changes in HTR2C expression are not related to the promoter variants typed in our sample, but could be due to other regulatory variants or trans-acting factors.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
- Lindholm, Eva, et al.
(författare)
-
Reconstruction of ancestral haplotypes in a 12-generation schizophrenia pedigree
- 2004
-
Ingår i: Psychiatric Genetics. - Philadelphia : Lippincott Williams & Wilkins. - 0955-8829 .- 1473-5873. ; 14:1, s. 1-8
-
Tidskriftsartikel (refereegranskat)abstract
- We searched for candidate chromosomal regions inherited identical by descent in 19 patients suffering from schizophrenia or schizoaffective disorder that are related 12 generations back, to an ancestral couple born in the middle of the seventeenth century. To accomplish this goal, we constructed complete chromosomal haplotypes for each patient using genotype data from 450 markers. In total, 12 haplotype regions (with sizes ranging from 0.6 to 10.9 cM) constituted by three markers each were identical in three or more of the affected individuals. The largest genomic segment was located on 6q25, a region previously shown to be significantly more frequent in patients than controls, and proposed to contain a schizophrenia susceptibility locus. For the remaining 11 candidate haplotypes, we estimated haplotype frequencies from all the 43 affected members collected from the same family and 46 unrelated control individuals. This analysis indicated that at least four of the 11 candidate haplotypes are ancestral, since the frequencies were significantly higher in patients than in controls. Five additional haplotypes showed higher estimated frequencies in the patients but the differences were not significant. Interestingly, five of these 11 genomic regions are located in, or close to, candidate regions previously suggested to contain susceptibility genes for schizophrenia. The regions are 5q21-23, 8p21-22, 1 0p13-15, 13q12-13 and 22q12-13. Several of these haplotypes are probably ancestral linkage disequilibrium blocks inherited from the original couple. There exists, however, the possibility that one or more of these regions harbour schizophrenia susceptibility loci that may have epistatic interactions among them.
|
|
| 5. |
- Parding, Karolina, et al.
(författare)
-
Projekt: Nationell temagrupp A&O (arbetsplatslärande och omställning i arbetslivet)
- 2010
-
Annan publikation (populärvet., debatt m.m.)abstract
- Europeiska Socialfondens temagrupp för arbetsplatslärande och omställning i arbetslivet som sammanställer, analyserar och sprider kunskaper och erfarenheter av hur långsiktig kompetensutveckling kan säkerställas på arbetsplatser i samarbete mellan arbetsgivare, fack, anställda, intermediärer, myndigheter och forskare.
|
|
| 6. |
- Szatkiewicz, Jin, et al.
(författare)
-
The genomics of major psychiatric disorders in a large pedigree from Northern Sweden
- 2019
-
Ingår i: Translational Psychiatry. - : Nature Publishing Group. - 2158-3188. ; 9
-
Tidskriftsartikel (refereegranskat)abstract
- We searched for genetic causes of major psychiatric disorders (bipolar disorder, schizoaffective disorder, and schizophrenia) in a large, densely affected pedigree from Northern Sweden that originated with three pairs of founders born around 1650. We applied a systematic genomic approach to the pedigree via karyotyping (N = 9), genome-wide SNP arrays (N = 418), whole-exome sequencing (N = 26), and whole-genome sequencing (N = 10). Comprehensive analysis did not identify plausible variants of strong effect. Rather, pedigree cases had significantly higher genetic risk scores compared to pedigree and community controls.
|
|
| 7. |
- Åberg [Engström], Annica, 1967-, et al.
(författare)
-
Professional strategies that address the whole family's physical and emotional needs after a caesarean section
- 2020
-
Ingår i: European journal of contraception & reproductive health care. - : TAYLOR & FRANCIS LTD. - 1362-5187 .- 1473-0782. ; 25:3, s. 199-205
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives: The purpose of the study was to contribute to knowledge about how midwives manage the separation between mother and child after a caesarean section and how they try to manage the difficulties they encounter. Methods: Data were collected from 12 interviews and subjected to inductive qualitative content analysis. Results: The findings showed the importance of enabling midwives to reflect on their daily work and indicated that the partner's role and participation after a caesarean section should receive greater focus and be part of routine care. Collaboration between the surgical and maternity wards could be improved by drawing up written guidelines to establish local routines. Together with national guidelines on minimising separation after a caesarean section, these suggestions could lead to more equal delivery of care for families.
|
|
| 8. |
- Åberg, Karolina, 1977-
(författare)
-
Finding Genes for Schizophrenia
- 2005
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Schizophrenia is one of our most common psychiatric diseases. It severely affects all aspects of psychological functions and results in loss of contact with reality. No cure exists and the treatments available today produce only partial relief for disease symptoms. The aim of this work is to better understand the etiology of schizophrenia by identification of candidate genes and gene pathways involved in the development of the disease. In a preliminarily study, the effects of medication and genetic factors were investigated in a candidate gene, serotonin 2C receptor. This study distinguished pharmacological effects, caused by neuroleptics, and/or genetic effects, caused by unique polymorphisms, from other effects responsible for mRNA expression changes on candidate genes. The core of the thesis describes a new candidate gene for schizophrenia, the quaking homolog, KH domain RNA binding (mouse) or QKI, located on chromosome 6q26-q27. The identification of QKI is supported by previous linkage studies, current association studies and mRNA expression studies using three different sample sets. The investigated samples included a 12-generation pedigree with 16 distantly related schizophrenic cases and their parents, 176 unrelated nuclear families with at least one affected child in each family and human brain autopsies from 55 schizophrenic cases and from 55 controls. Indirect evidence showing involvement of QKI in myelin regulation of central nervous system is presented. Myelin plays an important role in development of normal brains and disruption of QKI might lead to schizophrenia symptoms. In a forth sample set, including extended pedigrees originated from a geographically isolated area above the Arctic Circle, in northeast Sweden, two additional schizophrenia susceptibility loci were identified, 2q13 and 5q21. Both these regions have previously been highlighted as potential schizophrenia loci in several other investigations, including a large Finnish study. This suggests common schizophrenia susceptibility loci for Nordic populations. A pilot investigation including a genome wide haplotype analysis is presented. This statistical strategy could be further developed and applied to the artic Swedish families, including analysis of 900 microsatellites and 10,000 SNPs. These findings will facilitate the understanding of the schizophrenia etiology and may lead to development of more efficient treatments for patients that suffer from schizophrenia.
|
|
| 9. |
|
|
| 10. |
- Åberg, Karolina, et al.
(författare)
-
Human QKI, a New Candidate Gene for Schizophrenia Involved in Myelination
- 2005
-
Ingår i: American journal of medical genetics. Part B, Neuropsychiatric genetics. - Malden : Wiley. - 1552-4841 .- 1552-485X. ; 141B:1, s. 84-90
-
Tidskriftsartikel (refereegranskat)abstract
- We have previously shown that chromosome 6q25-6q27 includes a susceptibility locus for schizophrenia in a large pedigree from northern Sweden. In this study, we fine-mapped a 10.7 Mb region, included in this locus, using 42 microsatellites or SNP markers. We found a 0.5 Mb haplotype, likely to be inherited identical by decent, within the large family that is shared among the majority of the patients (69%). A gamete competition test of this haplotype in 176 unrelated nuclear families from the same geographical area as the large family showed association to schizophrenia (empirical P-value 0.041). The only gene located in the region, the quaking homolog, KH domain RNA binding (mouse) (QKI), was investigated in human brain autopsies from 55 cases and 55 controls using a high-resolution mRNA expression analysis. Relative mRNA expression levels of two QKI splice variants were clearly downregulated in schizophrenic patients (P-value 0.0004 and 0.03, respectively). The function of QKI has not been studied in humans, but the mouse homolog is involved in neural development and myelination. In conclusion, we present evidence from three unrelated sample-sets that propose the involvement of the QKI gene in schizophrenia. The two family based studies suggest that there may be functional variants of the QKI gene that increase the susceptibility of schizophrenia in northern Sweden, whereas the case-control study suggest that splicing of the gene may be disturbed in schizophrenic patients from other geographical origins. Taken together, we propose QKI as a possible target for functional studies related to the role of myelination in schizophrenia.
|
|
