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- Hinks, A, et al.
(författare)
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Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult inflammatory arthritic diseases
- 2017
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Ingår i: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 76:4, s. 765-772
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Tidskriftsartikel (refereegranskat)abstract
- Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases, comprising seven categories. Genetic data could potentially be used to help redefine JIA categories and improve the current classification system. The human leucocyte antigen (HLA) region is strongly associated with JIA. Fine-mapping of the region was performed to look for similarities and differences in HLA associations between the JIA categories and define correspondences with adult inflammatory arthritides.MethodsDense genotype data from the HLA region, from the Immunochip array for 5043 JIA cases and 14 390 controls, were used to impute single-nucleotide polymorphisms, HLA classical alleles and amino acids. Bivariate analysis was performed to investigate genetic correlation between the JIA categories. Conditional analysis was used to identify additional effects within the region. Comparison of the findings with those in adult inflammatory arthritic diseases was performed.ResultsWe identified category-specific associations and have demonstrated for the first time that rheumatoid factor (RF)-negative polyarticular JIA and oligoarticular JIA are genetically similar in their HLA associations. We also observe that each JIA category potentially has an adult counterpart. The RF-positive polyarthritis association at HLA-DRB1 amino acid at position 13 mirrors the association in adult seropositive rheumatoid arthritis (RA). Interestingly, the combined oligoarthritis and RF-negative polyarthritis dataset shares the same association with adult seronegative RA.ConclusionsThe findings suggest the value of using genetic data in helping to classify the categories of this heterogeneous disease. Mapping JIA categories to adult counterparts could enable shared knowledge of disease pathogenesis and aetiology and facilitate transition from paediatric to adult services.
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| 3. |
- Nyronning, L. A., et al.
(författare)
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Is the aortic size index relevant as a predictor of abdominal aortic aneurysm? A population-based prospective study: the Tromso study
- 2020
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Ingår i: Scandinavian Cardiovascular Journal. - : Informa UK Limited. - 1401-7431 .- 1651-2006. ; 54:2, s. 130-7
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Tidskriftsartikel (refereegranskat)abstract
- Objectives. The normal aortic diameter (AD) varies with gender, age and body surface area (BSA). The aortic size index (ASI) is defined as the AD divided by BSA. The primary aim of this study was to investigate if ASI is a predictor of development AAA, and to compare the predictive impact of ASI to that of the absolute AD. Design. Population-based prospective study including 4161 individuals (53.2% women) from the Tromso study with two valid ultrasound measurements of the AD and no AAA at baseline (Tromso 4, 1994). The primary outcome was AAA (AD >= 30 mm) in Tromso 5 (2001). A secondary outcome was aortic growth of >5 mm over 7 years. Estimates of relative risk were calculated in logistic regression models. The main exposure variable was ASI. Adjustments were made for age, gender, smoking, body mass index, total and high-density lipoprotein (HDL) cholesterol, and hypertension. Results. In total, 124 incident AAAs (20% among women) were detected. In adjusted analyses, both ASI and AD were strong predictors of AAA, with similar results for men and women. Both ASI and AD were also significant predictors of aortic growth >5 mm. In comparison, AD was superior to ASI as a predictor of both endpoints. Conclusions. ASI was a significant predictor of both AAA development and aortic growth of >5 mm for both men and women, but not a better predictor of either outcomes compared to the AD. The role of ASI compared to the AD as a predictor of AAA development seems to be limited.
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