| 51. |
- Ripatti, Samuli, et al.
(författare)
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GENESTAT : an information portal for design and analysis of genetic association studies
- 2009
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 17:4, s. 533-536
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Tidskriftsartikel (refereegranskat)abstract
- We present the rationale, the background and the structure for version 2.0 of the GENESTAT information portal (www.genestat.org) for statistical genetics. The fast methodological advances, coupled with a range of standalone software, makes it difficult for expert as well as non-expert users to orientate when designing and analysing their genetic studies. The ultimate ambition of GENESTAT is to guide on statistical methodology related to the broad spectrum of research in genetic epidemiology. GENESTAT 2.0 focuses on genetic association studies. Each entry provides a summary of a topic and gives links to key papers, websites and software. The flexibility of the internet is utilised for cross-referencing and for open editing. This paper gives an overview of GENESTAT and gives short introductions to the current main topics in GENESTAT, with additional entries on the website. Methods and software developers are invited to contribute to the portal, which is powered by a Wikipedia-type engine and allows easy additions and editing.
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| 52. |
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| 53. |
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| 54. |
- Sim, S, et al.
(författare)
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Association between CYP2C19 polymorphism and depressive symptoms
- 2010
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Ingår i: American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-485X .- 1552-4841. ; 153B:6, s. 1160-1166
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Tidskriftsartikel (refereegranskat)abstract
- Cytochrome P450 2C19 (CYP2C19) is a polymorphic enzyme active in the metabolism of for example diazepam and the antidepressants sertraline, citalopram, and escitalopram, whereby allelic variants cause increased (CYP2C19*17) or abolished (mainly CYP2C19*2) enzymatic activity in drug metabolism. In light of the importance of CYP2C19 in the metabolism of psychoactive substances we considered it of interest to investigate the relationship between CYP2C19 polymorphisms and depressive symptoms in 1,472 subjects of European ancestry (45-98 years old) from the Swedish Twin Registry. Depressive symptoms were assessed using the Center of Epidemiologic Studies Depression (CES-D) scale. We found that poor metabolizers lacking CYP2C19 activity (PMs, CYP2C19*2/*2) had significantly lower levels of depressive symptoms than extensive metabolizers (EMs, CYP2C19*1/*1) (P = 0.0018). The size of this difference was in the same range as that between subjects reported taking antidepressants (n = 104) and those without antidepressant treatment (P < 0.0001). Our results suggest for the first time that the CYP2C19 polymorphism might be of importance for depressive symptoms, as here shown for older European adults.
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| 55. |
- Skrtic, Stanko, 1970, et al.
(författare)
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Contemporary risk estimates of three HbA(1c) variables in relation to heart failure following diagnosis of type 2 diabetes
- 2017
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Ingår i: Heart. - : BMJ. - 1355-6037 .- 1468-201X. ; 103:5, s. 355-360
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Tidskriftsartikel (refereegranskat)abstract
- Background We evaluated the association between glycaemic control and the risk of heart failure (HF) in a contemporary cohort of persons followed after diagnosis of type 2 diabetes (T2D). Methods and results Persons with T2D diagnosed between 1998 and 2012 were retrieved from the Clinical Practice Research Data Link in the UK and followed from diagnosis until the event of HF, mortality, drop out from the database due to any other reason, or the end of the study on 1 July 2015. The association between each of three different haemoglobin A(1C) (HbA1c) metrics and HF was estimated using adjusted proportional hazard models. In the overall cohort (n= 94 332), the increased risk for HF per 1% (10 mmol/mol) increase in HbA(1c) was 1.15 (95% CI 1.13 to 1.18) for updated mean HbA(1c), and 1.06 (1.04 to 1.07) and 1.06 (1.04 to 1.08) for baseline HbA(1c) and updated latest HbA(1c), respectively. When categorised, the hazard risk (HR) for the updated mean HbA(1c) in relation to HF became higher than for baseline and updated latest HbA(1c) above HbA(1c) levels of 9%, but did not differ at lower HbA(1c) levels. The updated latest variable showed an increased risk for HbA(1c)
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| 56. |
- Skrtic, Stanko, 1970, et al.
(författare)
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Impact of CKD Progression on Cardiovascular Disease Risk in a Contemporary UK Cohort of Individuals With Diabetes
- 2020
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Ingår i: Kidney International Reports. - : Elsevier BV. - 2468-0249. ; 5:10, s. 1651-1660
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: It remains unclear whether an increased progression rate of chronic kidney disease (CKD) adds predictive information regarding cardiovascular disease (CVD) risk. The aim of this study was to evaluate the association between CKD progression, based on estimated glomerular filtration rate (eGFR) slope estimates and the risk for CVD. Methods: We compared the updated eGFR slope calculated over multiple overlapping 2-year periods and the updated mean eGFR. Incident CKD subjects were selected from a prevalent population with diabetes (T2DM). Subjects from the UK Clinical Practice Research Data Link GOLD (CPRD) were followed from CKD diagnosis (n = 30,222) until heart failure (HF), myocardial infarction (MI), ischemic stroke (IS), or a composite end point including all 3 event types (MACE plus), mortality, database dropout, or end of study follow-up. Results: Both the updated eGFR slope and updated mean eGFR were associated with MACE plus and HF. Updated eGFR slope decline of > -3 ml/min/1.73 m(2) increased the risk for MACE plus (adjusted hazard ratio [HR] = 1.45; 95% confidence interval [CI], 1.26-1.67), HF (HR = 1.50; 95% CI, 1.27-1.76), and MI (HR = 1.39; 95% CI, 1.01-1.91). Conclusions: This study strongly supports current evidence that CKD is an independent risk factor for CVD. From a clinical perspective, both rate of progression and cumulative status of CKD describe distinct aspects of the cardiorenal risk among persons with diabetes. This evidence is essential to enable more timely and improved use of treatments in this population.
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| 57. |
- Tancredi, Mauro, et al.
(författare)
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The relationship between eGFR and hospitalization for heart failure in 54,486 individuals with type 2 diabetes
- 2016
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Ingår i: Diabetes/Metabolism Research and Reviews. - : Wiley. - 1520-7552 .- 1520-7560. ; 32:7, s. 730-735
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: To study the association between renal function and hospitalization for heart failure (HF) in individuals with type 2 diabetes. METHODS: Renal function was determined according to 3 formulas used to estimate glomerular filtration rate (eGFR): Cockcroft-Gault, Modified Diet in Renal Disease (MDRD), and Chronic Kidney Disease Epidemiology (CKD-EPI). Proportional hazards regression models adjusted for age, sex, HbA1c, blood pressure, smoking, and cardiovascular comorbidities were constructed for each eGFR formula to estimate risk of HF hospitalization. RESULTS: In 54,486 patients, using Cockcroft-Gault, 41% were categorized as having normal renal function (eGFR > 90 ml/min), compared to 22.9% using MDRD and 21.6% using CKD-EPI. In the cohort, there were 21%-24% (depending on eGFR formula) with eGFR 90 ml/min/1.73 m2). Hazard ratios (HRs) ranged from 1.25 to 1.35 for eGFR 45-60 ml/min/1.73 m2,1.62 to 1.66 for eGFR 30-45 ml/min/1.73 m2, and 2.18 to 2.52 for eGFR
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| 58. |
- Teär Fahnehjelm, Kristina, et al.
(författare)
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Cataract after allogeneic hematopoietic stem cell transplantation in childhood
- 2016
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 105:1, s. 82-89
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Tidskriftsartikel (refereegranskat)abstract
- AimThe aim of this study was to study long-term visual outcome and cataract development in children and adolescents after hematopoietic stem cell transplantation (HSCT) in childhood. MethodsBest corrected visual acuity (BCVA), refraction and lens status were examined in a prospective study of 139 children and adolescents. ResultsIn total, 139 patients (58 female), median age 6.6years at HSCT (range 0.4-17.5years), were followed up for a median of 8.0years (1-19.4years). Median BCVA in the better eye was 1.0 decimal. Altogether 19 of 131 patients developed cataract requiring surgery, while 46 developed less prominent lens opacities and 66 had clear lenses at time of latest follow-up. Patients conditioned with total body irradiation had a higher risk of developing lens opacities or cataract (p<0.0001) as did patients with malignant disease, irrespective of irradiation treatment (p<0.0001). Cumulative analysis showed that 50% of all patients had developed lens opacities/cataract after 10.2years. Patients who ultimately needed cataract surgery developed cataract earlier than others (p=0.006). ConclusionLens opacities or cataract were more common in children or adolescents with malignant disease and after conditioning with irradiation. Regular ophthalmological follow-up is important after HSCT for early intervention to avoid amblyopia.
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| 59. |
- Tiikkaja, S., et al.
(författare)
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Familial risk of premature cardiovascular mortality and the impact of intergenerational occupational class mobility
- 2012
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Ingår i: Social Science & Medicine. - : Elsevier BV. - 0277-9536 .- 1873-5347. ; 75:10, s. 1883-1890
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Tidskriftsartikel (refereegranskat)abstract
- The negative impact of low social class on cardiovascular disease (CVD) and mortality has been consistently documented. However, less scientific consistency exists in terms of whether a unique health effect of social mobility from childhood to adulthood prevails. This study explored how childhood and adult social class and the transition between them (social mobility), are related to premature CVD mortality when familial aggregation of CVD among siblings is also considered. The study includes nearly 1.9 million Swedish residents born 1939-1959 distributed over 1,044,725 families, of whom 14,667 died prematurely from CVD in 1990-2003. Information on parental class (1960) and own mid-life occupational class (1990) was retrieved from the respective censuses. Odds ratios for premature CVD mortality according to trajectory-specific social mobility, along with pairwise mean odds ratios for sibling resemblance of premature CVD mortality, were calculated by means of alternating logistic regression. This model calculates the remaining dependency of CVD mortality within sibships after accounting for available risk factors (like parental and adult social class) in the population mean model. Results showed that premature CVD mortality was associated with both parental and own adult social class. A clear tendency for the downwardly mobile to have increased, and for the upwardly mobile to experience a decreased risk of premature DID mortality was found, as well as a corresponding unique effect of social mobility per se among the manual and non-manual classes. This effect was verified for men, but not for women, when they were analysed separately. The pairwise mean odds ratios for premature CVD mortality among full siblings were 1.78 (95% CI: 1.52-2.08), and were independent of parental CVD mortality and parental or adult occupational class.
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| 60. |
- Vestberg, Daniel, et al.
(författare)
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Decreased eGFR as a Risk Factor for Heart Failure in 13 781 Individuals With Type 1 Diabetes.
- 2016
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Ingår i: Journal of diabetes science and technology. - : SAGE Publications. - 1932-2968. ; 10:1, s. 131-136
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Tidskriftsartikel (refereegranskat)abstract
- Impaired renal function is a well-known risk factor of cardiovascular disease, but its relation to heart failure in individuals with type 1 diabetes has been sparsely studied. The aim of our study was to quantify the risk increase for development of heart failure with decreasing kidney function in individuals with type 1 diabetes.
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