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- Stolk, Lisette, et al.
(författare)
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Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268
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Tidskriftsartikel (refereegranskat)abstract
- To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.
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- Scott, Robert A., et al.
(författare)
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Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:9, s. 991-1005
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Tidskriftsartikel (refereegranskat)abstract
- Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci influencing glycemic traits to 53, of which 33 also increase type 2 diabetes risk (q < 0.05). Loci influencing fasting insulin concentration showed association with lipid levels and fat distribution, suggesting impact on insulin resistance. Gene-based analyses identified further biologically plausible loci, suggesting that additional loci beyond those reaching genome-wide significance are likely to represent real associations. This conclusion is supported by an excess of directionally consistent and nominally significant signals between discovery and follow-up studies. Functional analysis of these newly discovered loci will further improve our understanding of glycemic control.
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- Smedby, Karin E., et al.
(författare)
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GWAS of Follicular Lymphoma Reveals Allelic Heterogeneity at 6p21.32 and Suggests Shared Genetic Susceptibility with Diffuse Large B-cell Lymphoma
- 2011
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 7:4, s. e1001378-
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Tidskriftsartikel (refereegranskat)abstract
- Non-Hodgkin lymphoma (NHL) represents a diverse group of hematological malignancies, of which follicular lymphoma (FL) is a prevalent subtype. A previous genome-wide association study has established a marker, rs10484561 in the human leukocyte antigen (HLA) class II region on 6p21.32 associated with increased FL risk. Here, in a three-stage genome-wide association study, starting with a genome-wide scan of 379 FL cases and 791 controls followed by validation in 1,049 cases and 5,790 controls, we identified a second independent FL-associated locus on 6p21.32, rs2647012 (ORcombined = 0.64, P-combined= 2x10(-21)) located 962 bp away from rs10484561 (r(2)< 0.1 in controls). After mutual adjustment, the associations at the two SNPs remained genome-wide significant (rs2647012: ORadjusted = 0.70, P-adjusted= 4x10(-12); rs10484561: ORadjusted = 1.64, P-adjusted= 5x10(-15)). Haplotype and coalescence analyses indicated that rs2647012 arose on an evolutionarily distinct haplotype from that of rs10484561 and tags a novel allele with an opposite (protective) effect on FL risk. Moreover, in a follow-up analysis of the top 6 FL-associated SNPs in 4,449 cases of other NHL subtypes, rs10484561 was associated with risk of diffuse large B-cell lymphoma (ORcombined = 1.36, P-combined = 1.4x10(-7)). Our results reveal the presence of allelic heterogeneity within the HLA class II region influencing FL susceptibility and indicate a possible shared genetic etiology with diffuse large B-cell lymphoma. These findings suggest that the HLA class II region plays a complex yet important role in NHL.
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- Deminger, Anna, 1973, et al.
(författare)
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A five-year prospective study of spinal radiographic progression and its predictors in men and women with ankylosing spondylitis
- 2018
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Ingår i: Arthritis Research & Therapy. - : Springer Science and Business Media LLC. - 1478-6354 .- 1478-6362. ; 20
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Tidskriftsartikel (refereegranskat)abstract
- Background: Knowledge about predictors of new spinal bone formation in patients with ankylosing spondylitis (AS) is limited. AS-related spinal alterations are more common in men; however, knowledge of whether predictors differ between sexes is lacking. Our objectives were to study spinal radiographic progression in patients with AS and investigate predictors of progression overall and by sex. Methods: Swedish patients with AS, age (mean +/- SD) 50 +/- 13 years, were included in a longitudinal study. At baseline and at 5-year follow up, spinal radiographs were graded according to the modified Stoke Ankylosing Spondylitis Spine Score (mSASSS). Predictors were assessed by questionnaires, spinal mobility tests and blood samples. Results: Of 204 patients included, 166 (81%) were re-examined and 54% were men. Men had significantly higher mean mSASSS at baseline and higher mean increase in mSASSS than women (1.9 +/- 2.8 vs. 1.2 +/- 3.3; p = 0.005) More men than women developed new syndesmophytes (30% vs. 12%; p = 0.007). Multivariate logistic regression analyses with progression >= 2 mSASSS units over 5 years or development of new syndesmophytes as the dependent variable showed that presence of baseline AS-related spinal radiographic alterations and obesity (OR 3.78, 95% CI 1.3 to 11.2) were independent predictors of spinal radiographic progression in both sexes. High C-reactive protein (CRP) was a significant predictor in men, with only a trend seen in women. Smoking predicted progression in men whereas high Bath Ankylosing Spondylitis Metrology Index (BASMI) and exposure to bisphosphonates during follow up (OR 4.78, 95% CI 1.1 to 20.1) predicted progression in women. Conclusion: This first report on sex-specific predictors of spinal radiographic progression shows that predictors may partly differ between the sexes. New predictors identified were obesity in both sexes and exposure to bisphosphonates in women. Among previously known predictors, baseline AS-related spinal radiographic alterations predicted radiographic progression in both sexes, high CRP was a predictor in men (with a trend in women) and smoking was a predictor only in men.
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- Finnbogason, T., et al.
(författare)
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Anterior dynamic ultrasound and Graf's examination in neonatal hip instability
- 2008
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Ingår i: Acta radiologica (Stockholm, Sweden : 1987). - : SAGE Publications. - 1600-0455 .- 0284-1851. ; 49:2, s. 204-11
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Discrepancy between neonatal hip morphology and stability has been reported in the literature. Comparative ultrasound studies on this issue are limited. PURPOSE: To compare neonatal hip instability, as assessed by dynamic ultrasound and clinical examination, with acetabular morphology, as assessed by Graf's method. MATERIAL AND METHODS: 536 newborn infants with clinical signs of hip instability, ambiguous findings at clinical hip examination, or positive risk factors for DDH were investigated with two ultrasound methods, the Graf method and anterior dynamic ultrasound, at an average age of 12 days. The hips were allocated to three groups according to the Graf result: A, normal (type Ia and b); B, borderline or immature (type IIa); and C, pathologic (type IIc and worse). Graf examination was compared with two diagnostic tests for instability, namely clinical examination by senior pediatric orthopedists and anterior dynamic ultrasound. RESULTS: According to Graf's method, 77% of the hips were normal, 20% borderline/immature, and 3% pathologic. On clinical hip examination, 82% were stable, 14% unstable, and 4% dislocatable. The dynamic ultrasound outcome was 88% stable hips, 10% unstable, and 2% dislocatable. Of the hips considered unstable or dislocatable on dynamic ultrasound, 21% had normal (type I) and 66% immature acetabular morphology according to the Graf method. Of the hips that were stable on dynamic ultrasound, only one (0.1%) was dysplastic according to the Graf method. Graf's examination showed the smallest number of normal hips, but also the fewest pathologic hips, with many indeterminate results that needed follow-up. CONCLUSION: Acetabular morphology correlated better to stability as assessed by dynamic ultrasound than to the clinical examination results, with fair to moderate agreement. Graf's examination resulted in a large number of indeterminate results that needed follow-up, but when used as the sole criterion for deciding treatment did not lead to a higher treatment rate than when the decision was based on clinical hip examination.
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| 15. |
- Finnbogason, T., et al.
(författare)
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Neonatal hip instability : a prospective comparison of clinical examination and anterior dynamic ultrasound
- 2008
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Ingår i: Acta radiologica (Stockholm, Sweden : 1987). - : SAGE Publications. - 1600-0455 .- 0284-1851. ; 49:2, s. 212-9
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Ultrasound is increasingly being used to complement the clinical examination in assessing neonatal hip instability. The clinical examination, although highly sensitive in detecting hip instability, can lead to considerable overtreatment. PURPOSE: To compare anterior dynamic ultrasound and clinical examination in the assessment of neonatal hip instability and regarding treatment rates. MATERIAL AND METHODS: 536 newborn infants (out of a population of 18,031) were selected, on the basis of a combination of risk factors, clinical signs of hip instability or ambiguous clinical findings, to undergo an anterior dynamic ultrasound examination of the hip, by a method developed by our group. This examination, performed by one out of seven experienced examiners, was compared with the standard clinical hip examination conducted by one of four pediatric orthopedic surgeons. The clinical examination was carried out both prior to and within a few hours after the ultrasound examination. RESULTS: The clinical examination diagnosed 81.7% of the hips as normal, 14.5% as unstable, and 3.8% as dislocatable or dislocated. With the dynamic ultrasound method, the corresponding figures were 87.8%, 10.4%, and 1.8%, respectively. Use of the criteria of the clinical examination resulted in treatment of 147 infants. Using the dynamic ultrasound examination as a criterion meant that 87 infants would receive treatment. The calculated treatment rate was 0.85% when based on the clinical stress test and 0.49% when based on the dynamic ultrasound. CONCLUSION: The dynamic ultrasound results reduced the treatment rate by over 40% when used as a basis for the decision regarding treatment.
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| 16. |
- Forsblad d'Elia, Helena, 1961, et al.
(författare)
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Fatigue and blood pressure in primary Sjogren's syndrome.
- 2008
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Ingår i: Scandinavian journal of rheumatology. - : Informa UK Limited. - 0300-9742 .- 1502-7732. ; 37:4, s. 284-92
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Primary Sjogren's syndrome (SS) is an autoimmune disease characterized by fatigue. Little is known about the genesis of fatigue. Fatigue is thought to represent a multidimensional concept and it is important to be able to measure it confidently. The aims were to evaluate the reliability and validity of the 20-item Multidimensional Fatigue Inventory (MFI-20) in SS and to search for factors associated with this disabling symptom. METHODS: Forty-eight women with primary SS completed the MFI-20 questionnaire. The results were compared with age-matched women with fibromyalgia (FM) and healthy controls. Convergent construct validity was assessed by correlations to a Visual Analogue Scale (VAS) for global fatigue by Spearman's correlation (r(s)). Test-retest reliability was analysed by the intraclass correlation coefficient (ICC) in 28 women. Associations between clinical variables and subscales of the MFI-20 were analysed. RESULTS: The SS women scored significantly higher in all subscales of the MFI-20 compared to controls but similar to FM. The ICCs were satisfactory, ranging from 0.66 for general fatigue to 0.85 for the total score of MFI-20. All subscales correlated significantly to VAS for global fatigue, general fatigue showing the highest correlation (r(s) = 0.70). The estimated number of hours of sleep/day was significantly associated with many of the fatigue dimensions. All five subscales of the MFI-20 were inversely associated with diastolic blood pressure (BP) and two with systolic BP. CONCLUSIONS: The MFI-20 was found to be a reliable and valid tool for the measurement of fatigue in primary SS. High levels of fatigue were correlated with low BP, suggesting an associated involvement of the autonomic nervous system.
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| 18. |
- Hong, Y., et al.
(författare)
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Film blowing of linear low-density polyethylene blended with a novel hyperbranched polymer processing aid
- 2000
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Ingår i: Polymer. - 0032-3861 .- 1873-2291. ; 41:21, s. 7705-7713
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Tidskriftsartikel (refereegranskat)abstract
- The use of hyperbranched polymer (HBP) as a processing aid for linear low-density polyethylene (LLDPE) in the tubular film blowing process was investigated. Through the addition of HBP, sharkskin was successfully eliminated without significantly changing the overall physical properties of LLDPE films. Also, there was a minimum of 40% enhancement in processing rate with addition of 0.5 wt% HBP. The study showed that HBP and LLDPE are immiscible, and HBP has a tendency to migrate to the surface, subsequently, it seems to form a lubricating layer between the metal surfaces and the bulk material. This phase separation between HBP and LLDPE results in an HBP-rich surface, which has a high potential to create unique surface properties tailored to various applications. Rheological analysis indicated that excessive slip was present in HBP/LLDPE suggesting that the onset of slip is not the cause of sharkskin. On the contrary, it may be partially responsible for the elimination of sharkskin.
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| 19. |
- Johansson, Pia M, 1963-, et al.
(författare)
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Statistical modelling needed to find the effects from a community-based elderly safety promotion program.
- 2009
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Ingår i: European Journal of Public Health. - : Oxford University Press (OUP). - 1101-1262 .- 1464-360X. ; 19:1, s. 100-105
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Tidskriftsartikel (refereegranskat)abstract
- Background: Multiple control areas and time-series analyses have been recommended for effect evaluations of community-based health promotion. Large fluctuations, maybe due to chance, among the areas and over the years might obscure the intervention effect. Methods: A quasi-experimental time-series analysis with several control areas was performed as an effect evaluation of a community-based elderly safety promotion program. The program was implemented during 199599 in a community in the Stockholm Metropolitan area (population 65 years: 5500; number of first hip fractures in 1995: 60). Four control areas were selected based on similar hip fracture-related characteristics as the intervention community, complemented with two larger control areas. The time series covered 6 years pre-intervention (199095) and 6 years post-intervention (19962001). The study population was divided into two age groups and gender, resulting in 28 panels. The first hip fracture incidence was obtained from the Swedish national in-patient register. Results: The time series revealed no discernible pattern, and conventional analyses showed no conclusive results. A multivariate analysis, examining the time trends by employing the intra-annual and intra-panel variance, revealed the underlying trends in hip fracture rates. Comparisons between predicted numbers of hip fractures in the intervention and control areas was enabled, which resulted in 14 less hip fractures in the intervention community than expected from the control communities. If one extreme value was altered, the result changed considerably. Conclusion: Effect evaluations of community-based health promotion programs using time-series from small communities might give faulty results, if statistical modelling is not employed.
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