| 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. |
- Tabassum, R, et al.
(författare)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 3. |
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| 4. |
- Andersen, H., et al.
(författare)
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Dyspnea has an association with lifestyle: differences between Swedish and Finnish speaking persons in Western Finland
- 2021
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Ingår i: European Clinical Respiratory Journal. - : Informa UK Limited. - 2001-8525. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Difference in dyspnea mMRC >= 2 between Finnish speaking and Swedish-speaking populations in Finland has not been previously studied. Methods In February 2016, a respiratory questionnaire was sent to 8000 randomly selected subjects aged 20-69 years in western Finland with a response rate of 52.3%. The registered native language of each subject determined whether questionnaire in Finnish or Swedish was applied. Multiple logistic regression was performed to calculate Odds Ratios (OR) with 95% CI for the simultaneous effects of independent variables on dyspnea mMRC >= 2. Results Of all participants, 2780 (71.9%) were Finnish speakers and 1084 (28.1%) were Swedish speakers. Finnish speakers had a higher prevalence of dyspnea mMRC >= 2 (11.1% vs 6.5% p < 0.001) when compared to Swedish speakers. Finnish speakers smoked more often, had higher BMI, spent less time moving during the day, had more often occupational exposure to vapours, gases, dusts or fumes (VGDF), and had lower socioeconomic status based on occupation. Significant risk factors for dyspnea mMRC >= 2 were COPD (OR = 10.94), BMI >35 (OR = 9.74), asthma (OR = 4.78), female gender (OR = 2.38), older age (OR = 2.20), current smoking (OR = 1.59), and occupational exposure to VGDF (OR = 1.47). Conclusions Swedish speakers had less dyspnea mMRC >= 2 which is explained by a healthier lifestyle. Smoking, obesity, and occupational exposures should be in focus to improve respiratory health.
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| 5. |
- Andersen, H., et al.
(författare)
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Influence of Childhood Exposure to a Farming Environment on Age at Asthma Diagnosis in a Population-Based Study
- 2021
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Ingår i: Journal of Asthma and Allergy. - 1178-6965. ; 14, s. 1081-1091
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Asthma is a heterogeneous disease, and factors associated with different asthma phenotypes are poorly understood. Given the higher prevalence of farming exposure and late diagnosis of asthma in more rural Western Finland as compared with the capital of Helsinki, we investigated the relationship between childhood farming environment and age at asthma diagnosis. Methods: A cross-sectional population-based study was carried out with subjects aged 2069 years in Western Finland. The response rate was 52.5%. We included 3864 participants, 416 of whom had physician-diagnosed asthma at a known age and with data on the childhood environment. The main finding was confirmed in a similar sample from Helsinki. Participants were classified as follows with respect to asthma diagnosis: early diagnosis (011 years), intermediate diagnosis (12-39 years), and late diagnosis (40-69 years). Results: The prevalence of asthma was similar both without and with childhood exposure to a farming environment (11.7% vs 11.3%). Allergic rhinitis, family history of asthma, exsmoker, occupational exposure, and BMI >= 30 kg/m(2) were associated with a higher likelihood of asthma. Childhood exposure to a farming environment did not increase the odds of having asthma (aOR, 1.10; 95% CI, 0.87-1.40). It did increase the odds of late diagnosis (aOR, 2.30; 95% CI, 1.12-4.69), but the odds were lower for early (aOR, 0.49; 95% CI, 0.30-0.80) and intermediate diagnosis of asthma (aOR, 0.75; 95% CI, 0.47-1.18). Conclusion: Odds were lower for early diagnosis of asthma and higher for late diagnosis of asthma in a childhood farming environment. This suggests a new hypothesis concerning the etiology of asthma when it is diagnosed late.
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| 6. |
- Andersen, H., et al.
(författare)
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Multimorbidity in Finnish and Swedish speaking Finns; association with daily habits and socioeconomic status - Nordic EpiLung cross-sectional study
- 2021
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Ingår i: Preventive Medicine Reports. - : Elsevier BV. - 2211-3355. ; 22
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Tidskriftsartikel (refereegranskat)abstract
- Multimorbidity is an emerging public health priority. This study aims to assess the role of lifestyle and socioeconomic status in the prevalence of multimorbidity and chronic diseases by using two language groups that are part of the same genetic subgroup but differ by daily habits. We conducted a cross-sectional survey in 2016 with randomly selected population sample with 4173 responders (52.3%) aged 20-69 years in Western Finland. We included 3864 Finnish participants with Swedish (28.1%) or Finnish (71.9%) as a native language. We used a questionnaire to assess participants' chronic diseases and lifestyle. We determined multimorbidity as a disease count >= 2. Finnish speakers were more likely to have a diagnosis of COPD, heart failure, diabetes, reflux disease, chronic kidney failure, and painful conditions than Swedish speakers. The prevalence of multimorbidity was higher for Finnish speakers in the age group of 60-69 years (41.0% vs. 32.0%, p = 0.018) than Swedish speakers. A higher proportion of Finnish speakers smoked, were obese, inactive, and had lower socioeconomic status compared to Swedish speakers. All these factors, in addition to age and female sex, were significant risk factors for multimorbidity. Prevalence of multimorbidity was different in two language groups living in the same area and was associated with differences in lifestyle factors such as smoking, physical inactivity and obesity.
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| 7. |
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| 8. |
- Hisinger-Molkanen, H., et al.
(författare)
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Age at asthma diagnosis is related to prevalence and characteristics of asthma symptoms
- 2022
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Ingår i: World Allergy Organization Journal. - : Elsevier BV. - 1939-4551. ; 15:9
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Tidskriftsartikel (refereegranskat)abstract
- Background: Although asthma may begin at any age, knowledge about relationship between asthma age of onset and the prevalence and character of different symptoms is scarce. Objectives: The aim of this study was to investigate if adult-diagnosed asthma is associated with more symptoms and different symptom profiles than child-diagnosed asthma.Methods: A FinEsS postal survey was conducted in a random sample of 16 000 20-69-year-old Finnish adults in 2016. Those reporting physician-diagnosed asthma and age at asthma diagnosis were included. Age 18 years was chosen to delineate child-and adult-diagnosed asthma.Results: Of responders (N = 8199, 51.5%), 842 (10.3%) reported asthma diagnosis. Adult -diagnosed asthma was reported by 499 (59.3%) and child-diagnosed by 343 (40.7%). Of re-sponders with adult-diagnosed and child-diagnosed asthma, 81.8% versus 60.6% used asthma medication (p < 0.001), respectively. Current asthma was also more prevalent in adult-diagnosed asthma (89.2% versus 72.0%, p < 0.001). Risk factors of attacks of breathlessness during the last 12 months were adult-diagnosis (OR = 2.41, 95% CI 1.64-3.54, p < 0.001), female gender (OR = 1.49, 1.07-2.08, p = 0.018), family history of asthma (OR = 1.48, 1.07-2.04, p = 0.018) and allergic rhinitis (OR = 1.49, 1.07-2.09, p = 0.019). All the analysed asthma symptoms, except dyspnea in exercise, were more prevalent in adult-diagnosed asthma in age-and gender-adjusted analyses (p = 0.032-<0.001) which was also more often associated with 5 or more asthma symptoms (p < 0.001) and less often with non-symptomatic appearance (p < 0.001) than child -diagnosed asthma.Conclusion: Responders with adult-diagnosed asthma had more often current asthma and a higher and multiform asthma symptom burden, although they used asthma medication more often compared to responders with child-diagnosed asthma.
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| 9. |
- Honkamaki, J., et al.
(författare)
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Age- and gender-specific incidence of new asthma diagnosis from childhood to late adulthood
- 2019
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Ingår i: Respiratory Medicine. - : Elsevier BV. - 0954-6111 .- 1532-3064. ; 154, s. 56-62
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Tidskriftsartikel (refereegranskat)abstract
- Background: Asthma is currently divided into different phenotypes, with age at onset as a relevant differentiating factor. In addition, asthma with onset in adulthood seems to have a poorer prognosis, but studies investigating age-specific incidence of asthma with a wide age span are scarce. Objective: To evaluate incidence of asthma diagnosis at different ages and differences between child- and adult-diagnosed asthma in a large population-based study, with gender-specific analyzes included. Methods: In 2016, a respiratory questionnaire was sent to 8000 randomly selected subjects aged 20-69 years in western Finland. After two reminders, 4173 (52.3%) subjects responded. Incidence rate of asthma was retrospectively estimated based on the reported age of asthma onset. Adult-diagnosed asthma was defined as a physician-diagnosis of asthma made at >= 18 years of age. Results: Among those with physician-diagnosed asthma, altogether, 63.7% of subjects, 58.4% of men and 67.8% of women, reported adult-diagnosed asthma. Incidence of asthma diagnosis was calculated in 10-year age groups and it peaked in young boys (0-9 years) and middle-aged women (40-49 years) and the average incidence rate during the examined period between 1946 and 2015 was 2.2/1000/year. Adult-diagnosed asthma became the dominant phenotype among those with physician-diagnosed asthma by age of 50 years and 38 years in men and women, respectively. Conclusions: Asthma is mainly diagnosed during adulthood and the incidence of asthma diagnosis peaks in middle-aged women. Asthma diagnosed in adulthood should be considered more in clinical practice and management guidelines.
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| 10. |
- Honkamäki, J., et al.
(författare)
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Asthma Remission by Age at Diagnosis and Gender in a Population-Based Study
- 2021
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Ingår i: Journal of Allergy and Clinical Immunology: In Practice. - : Elsevier BV. - 2213-2198 .- 2213-2201. ; 9:5
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Tidskriftsartikel (refereegranskat)abstract
- Background: Child-onset asthma is known to remit with high probability, but remission in adult-onset asthma is seemingly less frequent. Reports of the association between remission and asthma age of onset up to late adulthood are scarce. Objective: To evaluate the association between asthma remission, age at diagnosis and gender, and assess risk factors of nonremission. Methods: In 2016, a random sample of 16,000 subjects aged 20 to 69 years from Helsinki and Western Finland were sent a FinEsS questionnaire. Physician-diagnosed asthma was categorized by age at diagnosis to early- (0-11 years), intermediate- (12-39 years), and late-diagnosed (40-69 years) asthma. Asthma remission was defined by not having had asthma symptoms and not having used asthma medication in the past 12 months. Results: Totally, 8199 (51.5%) responded, and 879 reported physician-diagnosed asthma. Remission was most common in early-diagnosed (30.2%), followed by intermediate-diagnosed (17.9%), and least common in late-diagnosed asthma (5.0%) (P <.001), and the median times from diagnosis were 27, 18.5, and 10 years, respectively. In males, the corresponding remission rates were 36.7%, 20.0%, and 3.4%, and in females, 20.4%, 16.6%, and 5.9% (gender difference P <.001). In multivariable binary logistic regression analysis, significant risk factors of asthma nonremission were intermediate (odds ratio [OR] = 2.15, 95% confidence interval: 1.37-3.36) and late diagnosis (OR = 11.06, 4.82-25.37) compared with early diagnosis, chronic obstructive pulmonary disease (COPD) (OR = 5.56, 1.26-24.49), allergic rhinitis (OR = 2.28, 1.50-3.46), and family history of asthma (OR = 1.86, 1.22-2.85). Results were similar after excluding COPD. Conclusion: Remission was rare in adults diagnosed with asthma after age 40 years in both genders. Late-diagnosed asthma was the most significant independent risk factor for nonremission. © 2020 American Academy of Allergy, Asthma & Immunology
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