| 1. |
- Heid, Iris M, et al.
(författare)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
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Tidskriftsartikel (refereegranskat)abstract
- Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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| 2. |
- Knutsen Rydberg, Ellen, 1969, et al.
(författare)
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Hypoxia increases LDL oxidation and expression of 15-lipoxygenase-2 in human macrophages
- 2004
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Ingår i: Arterioscler Thromb Vasc Biol. ; 24:11, s. 2040-2045
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Macrophage-mediated oxidation of low-density lipoprotein (LDL) by enzymes, such as the lipoxygenases, is considered of major importance for the formation of oxidized LDL during atherogenesis. Macrophages have been identified in hypoxic areas in atherosclerotic plaques. METHODS AND RESULTS: To investigate the role of hypoxia in macrophage-mediated LDL oxidation, we incubated human monocyte-derived macrophages with LDL under normoxic (21% O2) or hypoxic (0% O2) conditions. The results showed that hypoxic macrophages oxidized LDL to a significantly higher extent than normoxic cells. Interestingly, the mRNA and protein expression of 15-lipoxygenase-2 (15-LOX-2) as well as the activity of this enzyme are elevated in macrophages incubated at hypoxia. Both the unspliced 15-LOX-2 and the spliced variant 15-LOX-2sv-a are found in macrophages. In addition, 15-LOX-2 was identified in carotid plaques in some macrophage-rich areas but was only expressed at low levels in nondiseased arteries. CONCLUSIONS: In summary, these observations show for the first time that 15-LOX-2 is expressed in hypoxic macrophages and in atherosclerotic plaques and suggest that 15-LOX-2 may be one of the factors involved in macrophage-mediated LDL oxidation at hypoxia.
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| 3. |
- Ohlsson, Ann-Christine, et al.
(författare)
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Potential Risk Factors and Prevalence of Voice Symptoms in Students Starting Their Teacher Education
- 2021
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Ingår i: Journal of Voice. - : Elsevier BV. - 0892-1997 .- 1873-4588. ; 35:2, s. 1-323
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Tidskriftsartikel (refereegranskat)abstract
- The aim of the present study was to determine prevalence of voice problems and potential risk factors in teacher students at the start of their education. A total of 1494 students from seven teacher education schools participated in the study. The students answered a questionnaire about 11 risk factors, and one with six questions about voice symptoms, Screen6, and 30 statements in the Voice Handicap Index (VHI). Students reporting at least 2 weekly voice symptoms in Screen6 were assigned to the group with voice problems. Significance level was P < 0.05. Results: prevalence of risk factors was about the same in the seven groups of teacher students except the group with highest proportion of women that also showed the highest proportion of voice problems, 38%. Prevalence of voice problems in the total group was 17%. Comparison of students with or without voice problems showed that all factors except one were more prevalent among students with voice problems and women were overrepresented. Mean total VHI score was 22 in students with voice problems and eight in students without voice problems. Multiple regression analyses showed that frequent throat infections, hearing problems, previous speech therapy, or voice training were the potential risk factors that had the strongest association with voice symptoms as well as with total score in VHI. Conclusions: results from this study show that it is common that teacher students experience voice problems already at the start of their education and potential risk factors associated with voice problems are identified. Knowing that teaching is a high-risk profession for developing voice disorders, it is crucial that teacher students should receive compulsory preprofessional voice education including voice ergonomics and voice training.
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| 4. |
- Rönnberg Wästljung, Ann-Christin, et al.
(författare)
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Optimized utilization of Salix—Perspectives for the genetic improvement toward sustainable biofuel value chains
- 2022
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Ingår i: Global Change Biology Bioenergy. - : John Wiley and Sons Inc. - 1757-1693 .- 1757-1707. ; 14:10, s. 1128-144
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Tidskriftsartikel (refereegranskat)abstract
- Bioenergy will be one of the most important renewable energy sources in the conversion from fossil fuels to bio-based products. Short rotation coppice Salix could be a key player in this conversion since Salix has rapid growth, positive energy balance, easy to manage cultivation system with vegetative propagation of plant material and multiple harvests from the same plantation. The aim of the present paper is to provide an overview of the main challenges and key issues in willow genetic improvement toward sustainable biofuel value chains. Primarily based on results from the research project “Optimized Utilization of Salix” (OPTUS), the influence of Salix wood quality on the potential for biofuel use is discussed, followed by issues related to the conversion of Salix biomass into liquid and gaseous transportation fuels. Thereafter, the studies address genotypic influence on soil carbon sequestration in Salix plantations, as well as on soil carbon dynamics and climate change impacts. Finally, the opportunities for plant breeding are discussed using willow as a resource for sustainable biofuel production. Substantial phenotypic and genotypic variation was reported for different wood quality traits important in biological (i.e., enzymatic and anaerobic) and thermochemical conversion processes, which is a prerequisite for plant breeding. Furthermore, different Salix genotypes can affect soil carbon sequestration variably, and life cycle assessment illustrates that these differences can result in different climate mitigation potential depending on genotype. Thus, the potential of Salix plantations for sustainable biomass production and its conversion into biofuels is shown. Large genetic variation in various wood and biomass traits, important for different conversion processes and carbon sequestration, provides opportunities to enhance the sustainability of the production system via plant breeding. This includes new breeding targets in addition to traditional targets for high yield to improve biomass quality and carbon sequestration potential. © 2022 The Authors.
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| 5. |
- Andersson-Wallgren, Gunnel, et al.
(författare)
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Growth Promoting Treatment Normalizes Speech Frequency in Turner Syndrome
- 2008
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Ingår i: Laryngoscope. - 0023-852X. ; 118:6, s. 1125-1130
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE:: To assess objective and subjective voice parameters among Turner syndrome (TS) women in relation to genotype, hearing, growth, and previous treatment with growth hormone (GH) and androgen given that lowering of speaking fundamental frequency (SFF) during treatment is regarded as a negative side effect. STUDY DESIGN:: Cross-sectional, controlled for karyotype and age. METHODS:: Voice function was studied objectively (SFF) and subjectively (questionnaire) in 117 women with TS. RESULTS:: SFF did not differ between treated and nontreated participants or between patients with a spontaneous versus induced puberty. SFF was dependent on karyotype but not age. Subjective voice change was reported four times more often among treated compared with nontreated TS women (odds ratio [OR] = 4.4; 95% confidence interval [CI]: 0.9-20.10), whereas voice and articulation problems were reported three times more often among untreated compared with treated cases (OR = 2.9; 95% CI: 1.0-8.3). Voice symptoms were over-represented among patients having micrognathia (OR = 6.0; 95% CI: 1.6-22.3), hearing loss (OR = 8.6; 95% CI: 1.7-43.1), and monosomy (OR = 6.2; 95% CI: 0.8-36.2) but not among those with an arched palate. CONCLUSIONS:: When given to TS girls, GH (33-66 mug/kg/d) and androgen (0.05 mg/kg/d) normalized SFF and reduced voice and articulation problems in adulthood. The TS phenotype includes important voice and speech problems, which in turn are associated with hearing problems, although genotypic, monosomic, and isochromosome patients have more voice problems and also more high-pitched voices than mosaic patients. Most TS women, despite their karyotype or age, exhibit a higher frequency of pitched voice than non-TS women.
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| 6. |
- Bengtsson, Mariette, et al.
(författare)
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A course of instruction for women with irritable bowel syndrome.
- 2006
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Ingår i: Patient Education and Counseling. - : Elsevier BV. - 0738-3991. ; 62:Aug 9, s. 118-125
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aim of this study was to determine the effects a course of instruction about irritable bowel syndrome (IBS) might have on symptoms, psychological well-being, and medical care requirements in these patients. Methods: Twenty-nine women with IBS participated in a programme of instruction on medical care, physical activity, stress-management, diet and health insurance. The women completed the Gastrointestinal Symptom Rating Scale and the Psychological General Well-Being Index and provided information about their requirements of medical care before and after the course. Results: Twenty-three of the women included, completed the questionnaires at 12 months after the course. When comparing these values to those at baseline, there were improvements in abdominal pain (p < 0.037) and vitality (p < 0.045) as well as a reduction in the number of visits to physicians (p < 0.037) and dieticians (p < 0.042). Conclusion: Information related to the disease, might help women with IBS to perceive less pain and more vitality and thereby experience a higher quality of life. Practice implications: A course of instruction for patients with IBS maybe of benefit for the patients, and could be apart of a multicomponent approach in the treatment of this patient group. (c) 2005 Elsevier Ireland Ltd. All rights reserved.
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| 7. |
- Eriksson, Anna-Lena, 1971, et al.
(författare)
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Genetic variations in sex steroid-related genes as predictors of serum estrogen levels in men.
- 2009
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Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 94:3, s. 1033-41
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Tidskriftsartikel (refereegranskat)abstract
- CONTEXT: The risk of many conditions, including prostate cancer, breast cancer, and osteoporosis, is associated with serum levels of sex steroids. OBJECTIVE: The aim of the study was to identify genetic variations in sex steroid-related genes that are associated with serum levels of estradiol (E2) and/or testosterone in men. DESIGN: Genotyping of 604 single nucleotide polymorphisms in 50 sex steroid-related candidate genes was performed in the Gothenburg Osteoporosis and Obesity Determinants (GOOD) study (n = 1041 men; age, 18.9 +/- 0.6 yr). Replications of significant associations were performed in the Osteoporotic Fractures in Men (MrOS) Sweden study (n = 2568 men; age, 75.5 +/- 3.2 yr) and in the MrOS US study (n = 1922 men; age, 73.5 +/- 5.8 yr). Serum E2, testosterone, and estrone (E1) levels were analyzed using gas chromatography/mass spectrometry. RESULTS: The screening in the GOOD cohort identified the single nucleotide polymorphism rs2470152 in intron 1 of the CYP19 gene, which codes for aromatase, responsible for the final step of the biosynthesis of E2 and E1, to be most significantly associated with serum E2 levels (P = 2 x 10(-6)). This association was confirmed both in the MrOS Sweden study (P = 9 x 10(-7)) and in the MrOS US study (P = 1 x 10(-4)). When analyzed in all subjects (n = 5531), rs2470152 was clearly associated with both E2 (P = 2 x 10(-14)) and E1 (P = 8 x 10(-19)) levels. In addition, this polymorphism was modestly associated with lumbar spine BMD (P < 0.01) and prevalent self-reported fractures (P < 0.05). CONCLUSIONS: rs2470152 of the CYP19 gene is clearly associated with serum E2 and E1 levels in men.
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| 8. |
- Kilpeläinen, Tuomas O, et al.
(författare)
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Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
- 2011
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:8, s. 753-60
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies have identified 32 loci influencing body mass index, but this measure does not distinguish lean from fat mass. To identify adiposity loci, we meta-analyzed associations between ∼2.5 million SNPs and body fat percentage from 36,626 individuals and followed up the 14 most significant (P < 10(-6)) independent loci in 39,576 individuals. We confirmed a previously established adiposity locus in FTO (P = 3 × 10(-26)) and identified two new loci associated with body fat percentage, one near IRS1 (P = 4 × 10(-11)) and one near SPRY2 (P = 3 × 10(-8)). Both loci contain genes with potential links to adipocyte physiology. Notably, the body-fat-decreasing allele near IRS1 is associated with decreased IRS1 expression and with an impaired metabolic profile, including an increased visceral to subcutaneous fat ratio, insulin resistance, dyslipidemia, risk of diabetes and coronary artery disease and decreased adiponectin levels. Our findings provide new insights into adiposity and insulin resistance.
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| 9. |
- Lindström, Fredric, 1974, et al.
(författare)
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Mean F0 values obtained through standard phrase pronunciation compared with values obtained from the normal work environment: A study on teacher and child voices performed in a pre-school environment
- 2010
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Ingår i: Journal of Voice. - 0892-1997. ; 24:3, s. 319-323
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Tidskriftsartikel (refereegranskat)abstract
- Mean fundamental frequency (F0) values are often used in research on vocal load. In this study, we examine how the mean F0 differs when evaluated through pronouncing a standard phrase as compared to the mean F0 obtained in a real work/play environment. We also examine how the F0 values change throughout the day. The study was performed in a preschool, nine adult female preschool teachers and 11 children participated. The participants wore a digital recorder equipped with an accelerometer, which was attached to the neck. In the study, the participant first pronounced a standard phrase in a controlled environment; thereafter, the voice was recorded in the environment where both children and adults normally reside throughout the day, denoted by the work/play environment. For each participant, the procedure was repeated four times throughout the day. Analyses showed that the F0 values of the children's and adult's voices were significantly higher when recorded in the work/play environment as compared to the controlled environment. The average difference was 36 Hz for adults and 24 Hz for children. Previous studies have shown an increase of F0 over the day for teachers. In this study, an increase between morning and afternoon values was found amounting to 8 Hz for adults and 24 Hz for children. For the child population, this increase was statistically significant. However, the total changes over the day revealed a somewhat more complex scheme, with an increase of F0 in the morning, a decrease during lunch, and finally an increase in the afternoon. This pattern was verified statistically for the joint child-adult population.
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| 10. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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