| 1. |
- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 2. |
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| 3. |
- Guintivano, Jerry, et al.
(författare)
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Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression
- 2023
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Ingår i: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 180:12, s. 884-895
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Postpartum depression (PPD) is a common subtype of major depressive disorder (MDD) that is more heritable, yet is understudied in psychiatric genetics. The authors conducted meta-analyses of genome-wide association studies (GWASs) to investigate the genetic architecture of PPD.METHOD: Meta-analyses were conducted on 18 cohorts of European ancestry (17,339 PPD cases and 53,426 controls), one cohort of East Asian ancestry (975 cases and 3,780 controls), and one cohort of African ancestry (456 cases and 1,255 controls), totaling 18,770 PPD cases and 58,461 controls. Post-GWAS analyses included 1) single-nucleotide polymorphism (SNP)-based heritability ([Formula: see text]), 2) genetic correlations between PPD and other phenotypes, and 3) enrichment of the PPD GWAS findings in 27 human tissues and 265 cell types from the mouse central and peripheral nervous system.RESULTS: No SNP achieved genome-wide significance in the European or the trans-ancestry meta-analyses. The [Formula: see text] of PPD was 0.14 (SE=0.02). Significant genetic correlations were estimated for PPD with MDD, bipolar disorder, anxiety disorders, posttraumatic stress disorder, insomnia, age at menarche, and polycystic ovary syndrome. Cell-type enrichment analyses implicate inhibitory neurons in the thalamus and cholinergic neurons within septal nuclei of the hypothalamus, a pattern that differs from MDD.CONCLUSIONS: While more samples are needed to reach genome-wide levels of significance, the results presented confirm PPD as a polygenic and heritable phenotype. There is also evidence that despite a high correlation with MDD, PPD may have unique genetic components. Cell enrichment results suggest GABAergic neurons, which converge on a common mechanism with the only medication approved by the U.S. Food and Drug Administration for PPD (brexanolone).
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| 4. |
- Aberg, N, et al.
(författare)
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Increase of asthma, allergic rhinitis and eczema in Swedish schoolchildren between 1979 and 1991.
- 1995
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Ingår i: Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology. - : Wiley. - 0954-7894. ; 25:9, s. 815-9
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Tidskriftsartikel (refereegranskat)abstract
- A previous study has shown a twofold increase in prevalence of asthma and allergic rhinitis (AR) in Swedish recruits during the 1970s. The increase was higher in more northerly colder regions.To follow up the previously found trend to increasing prevalences with time as well as the climatic variations within the country.The prevalences of asthma, allergic rhinitis and eczema were assessed using two questionnaire studies, 12 years apart (1979 and 1991) with identical questions about the diseases. The study comprised representative samples of children from the Göteborg area on the south-western coast (in 1979: 7-year-olds, n = 4255, in 1991: 7-year-olds, n = 1649) and in Kiruna, a mining town in the northernmost inland mountains (in 1979: 7-year-olds, n = 427, in 1991: 7-9-year-olds, n = 832). In 1991 there was also a personal interview and a skin-prick test (SPT) on subsamples.The prevalence of all these diseases present over the last year had roughly doubled over the 12-year period. On both occasions, most symptoms were more prevalent in the northern area. In 1991, the prevalence of one or more symptoms in Göteborg was 23.8% and 32.5% and in Kiruna 29.9% and 44.8% in the questionnaire and the interview, respectively.Asthma, AR and eczema increase continuously in prevalence in Sweden and the climatic distribution of the prevalences suggests possible major risk factors to be found in a closed indoor climate.
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| 5. |
- Aberg, N, et al.
(författare)
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Prevalence of allergic diseases in schoolchildren in relation to family history, upper respiratory infections, and residential characteristics.
- 1996
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Ingår i: Allergy. - : Wiley. - 0105-4538 .- 1398-9995. ; 51:4, s. 232-7
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Tidskriftsartikel (refereegranskat)abstract
- The prevalences of asthma, allergic rhinitis (AR), and eczema were analyzed in relation to retrospective risk factors from birth in a questionnaire study of schoolchildren in two areas covering the whole climatic span of Sweden: the Göteborg area on the southwestern coast (7-year-olds, n = 1649) and Kiruna, a mining town in the northernmost inland mountains (7-9-year-olds, n = 832). The strongest background factor, a family history of the diseases, was more common in children with another strong risk factor, particularly for asthma: high frequency of upper respiratory tract infection (URTI). Other significant risk factors related to high indoor humidity caused an increased prevalence of both allergic diseases and URTI. Active mechanical ventilation of the homes caused a slight reduction of the prevalence of allergic diseases, and repainting or new wallpaper in the bedroom of the child after birth caused a moderately increased risk of allergic disease. This study illustrates the interaction between genetic and environmental risk factors with special emphasis on factors related to an unventilated indoor climate, which may have substantially contributed to the current increase of the diseases in the country.
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| 6. |
- Hesselmar, Bill, 1955, et al.
(författare)
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Asthma in children: prevalence, treatment, and sensitization.
- 2000
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Ingår i: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology. - : Wiley. - 0905-6157. ; 11:2, s. 74-9
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Tidskriftsartikel (refereegranskat)abstract
- This study compares the prevalence of asthma and sensitization in children from two Swedish regions with different climates: Göteborg on the southwest coast and Kiruna in the northern inland, north of the Arctic Circle. The 412 children of a population-based sample, 203 in Göteborg and 209 in Kiruna, were investigated at age 7-8 and 12-13 years. Questionnaire reports and interviews were obtained from all children at 7-8 years of age, and 192 children were skin-prick tested for common aeroallergens in Göteborg and 205 in Kiruna. At the follow-up, 5 years later, almost all the children were re-investigated. The prevalence of asthma, wheeze, and sensitization had increased with increasing age during the follow-up period. The questionnaire reports revealed that the prevalence of asthma was 8.5% at 12-13 years of age. All children who in the questionnaire reported current asthma, were using asthma medication. The interviews indicated that the prevalence of a clinically significant asthma might be even higher, reaching approximately 12%. Asthma and wheeze were as common in Göteborg as in Kiruna despite large differences in prevalence of sensitization. Sensitization, and especially sensitization to animals, was far more common in Kiruna than in Göteborg. This study shows that asthma and wheeze are increasingly prevalent even in school age children and that sensitization does not necessarily reflect the prevalence of asthma in a population.
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| 7. |
- Hesselmar, Bill, 1955, et al.
(författare)
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Does early exposure to cat or dog protect against later allergy development?
- 1999
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Ingår i: Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology. - : Wiley. - 0954-7894. ; 29:5, s. 611-7
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Tidskriftsartikel (refereegranskat)abstract
- It is unknown which factors in modern western society that have caused the current increase in prevalence of allergic diseases. Improved hygiene, smaller families, altered exposure to allergens have been suggested.To assess the relationship between exposure to pets in early life, family size, allergic manifestations and allergic sensitization at 7-9 and 12-13 years of age.The prevalence of allergic diseases and various background factors were assessed in 1991 and 1996 by questionnaire studies. In 1991, the study comprised representative samples of children from the Göteborg area on the Swedish west coast (7 years old, n = 1649) and the inland town Kiruna in northern Sweden (7-9 years old, n = 832). In 1992, a validation interview and skin prick test (SPT) were performed in a stratified sub-sample of 412 children. In 1996, this subgroup was followed up with identical questions about clinical symptoms as in 1991, detailed questions about early pet exposure were added and SPT performed.Children exposed to pets during the first year of life had a lower frequency of allergic rhinitis at 7-9 years of age and of asthma at 12-13 years. Children exposed to cat during the first year of life were less often SPT positive to cat at 12-13 years. The results were similar when those children were excluded, whose parents had actively decided against pet keeping during infancy because of allergy in the family. There was a negative correlation between the number of siblings and development of asthma and allergic rhinitis.Pet exposure during the first year of life and increasing number of siblings were both associated with a lower prevalence of allergic rhinitis and asthma in school children.
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