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- Jia, Gengjie, et al.
(författare)
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Estimating heritability and genetic correlations from large health datasets in the absence of genetic data
- 2019
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Typically, estimating genetic parameters, such as disease heritability and between-disease genetic correlations, demands large datasets containing all relevant phenotypic measures and detailed knowledge of family relationships or, alternatively, genotypic and phenotypic data for numerous unrelated individuals. Here, we suggest an alternative, efficient estimation approach through the construction of two disease metrics from large health datasets: temporal disease prevalence curves and low-dimensional disease embeddings. We present eleven thousand heritability estimates corresponding to five study types: twins, traditional family studies, health records-based family studies, single nucleotide polymorphisms, and polygenic risk scores. We also compute over six hundred thousand estimates of genetic, environmental and phenotypic correlations. Furthermore, we find that: (1) disease curve shapes cluster into five general patterns; (2) early-onset diseases tend to have lower prevalence than late-onset diseases (Spearmans rho = 0.32, p amp;lt; 10(-16)); and (3) the disease onset age and heritability are negatively correlated (rho = -0.46, p amp;lt; 10(-16)).
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- Persson, Michael, et al.
(författare)
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ABO blood type and risk of porcine bioprosthetic aortic valve degeneration : SWEDEHEART observational cohort study
- 2019
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Ingår i: BMJ Open. - : BMJ. - 2044-6055. ; 9:5
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Tidskriftsartikel (refereegranskat)abstract
- Objective Blood type A antigen on porcine aortic bioprostheses might initiate an immune reaction leading to an increased frequency of structural valve deterioration in patients with blood type B or O. The aim was to analyse the association between ABO blood type and porcine bioprosthetic aortic valve degeneration. Design Observational nationwide cohort study. Setting Swedish population-based study. Participants Adult patients (n=3417) who underwent surgical aortic valve replacement and received porcine bioprosthetic aortic valves between 1995 and 2012 from the Swedish Web system for Enhancement and Development of Evidence-based care in Heart disease Evaluated According to Recommended Therapies register. The study database was enriched with information from other national registers. Exposure The patients were categorised into type A/AB and type B/O blood groups. Primary and secondary outcome measures Primary outcome measure was aortic valve reoperation, and secondary outcomes were heart failure and all-cause mortality. We report risk estimates that account for the competing risk of death. Results In total, 3417 patients were identified: 1724 (50.5%) with blood type A/AB and 1693 (49.5%) with blood type B/O. Both groups had similar baseline characteristics. The cumulative incidence of aortic valve reoperation was 3.4% (95% CI 2.5% to 4.4%) and 3.6% (95% CI 2.6% to 4.6%) in the type B/O and the A/AB group, respectively, at 15 years of follow-up (absolute risk difference: -0.2% (95% CI -1.5% to 1.2%)). There was no significantly increased risk for aortic valve reoperation in patients with blood type B/O compared with type A/AB (HR 0.95, 95% CI 0.62 to 1.45). There was no significant difference in absolute or relative risk of heart failure or death between the groups. Conclusions We found no significant association between patient blood type and clinical manifestations of structural valve deterioration following porcine aortic valve replacement. Our findings suggest that it is safe to use porcine bioprosthetic valves without consideration of ABO blood type in the recipient.
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- Zhao, Jingcheng, et al.
(författare)
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Blood use in hematologic malignancies : a nationwide overview in Sweden between 2000 and 2010
- 2018
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Ingår i: Transfusion. - : John Wiley & Sons. - 0041-1132 .- 1537-2995. ; 58:2, s. 390-401
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUNDPatients with hematologic malignancies receive large numbers of blood transfusions, and transfusion practices for this patient group are increasingly being scrutinized by randomized controlled trials. However, no studies so far have presented current transfusion statistics on a population level for this patient group. STUDY DESIGN AND METHODSA retrospective descriptive study was conducted that was based on the Scandinavian Donations and Transfusions Database (SCANDAT2), which includes data on all blood donations and transfusions in Sweden and Denmark since the 1960s. Incident cases of hematologic malignancies were identified in the Swedish Cancer Register between 2000 and 2010. Cases were divided into nine patient groups based on diagnosis. RESULTSA total of 28,693 patients were included in the cohort. Overall, the transfusion pattern varied depending on diagnosis and age. Patients with aggressive and acute diagnoses generally received more transfusions with immediate decline in transfusion incidence after diagnosis, whereas chronic diagnoses generally maintained more stable, but lower, transfusion incidence. In general, patients with leukemia received more transfusions than patients with lymphoma, and patients with acute leukemia as well as patients that had undergone allogeneic stem cell transplantations received the most transfusions. Within 2 years after diagnosis, patients with acute myeloid leukemia diagnosed at ages 0 to 65 years received on average between 30 to 40 red blood cell transfusions and platelet transfusions, respectively, corresponding to direct material costs close to 200,000 SEK (23,809 USD). CONCLUSIONResults from this population-based overview of blood use in hematologic malignancies showed high variability depending on diagnosis and age.
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