| 2. |
- Kettunen, Jarno L.T., et al.
(författare)
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A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY
- 2022
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Ingår i: Diabetologia. - : Springer Science and Business Media LLC. - 0012-186X .- 1432-0428. ; 65:4, s. 632-643
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Tidskriftsartikel (refereegranskat)abstract
- Aims/hypothesis: Systematic studies on the phenotypic consequences of variants causal of HNF1A-MODY are rare. Our aim was to assess the phenotype of carriers of a single HNF1A variant and genetic and clinical factors affecting the clinical spectrum. Methods: We conducted a family-based multigenerational study by comparing heterozygous carriers of the HNF1A p.(Gly292fs) variant with the non-carrier relatives irrespective of diabetes status. During more than two decades, 145 carriers and 131 non-carriers from 12 families participated in the study, and 208 underwent an OGTT at least once. We assessed the polygenic risk score for type 2 diabetes, age at onset of diabetes and measures of body composition, as well as plasma glucose, serum insulin, proinsulin, C-peptide, glucagon and NEFA response during the OGTT. Results: Half of the carriers remained free of diabetes at 23 years, one-third at 33 years and 13% even at 50 years. The median age at diagnosis was 21 years (IQR 17–35). We could not identify clinical factors affecting the age at conversion; sex, BMI, insulin sensitivity or parental carrier status had no significant effect. However, for 1 SD unit increase of a polygenic risk score for type 2 diabetes, the predicted age at diagnosis decreased by 3.2 years. During the OGTT, the carriers had higher levels of plasma glucose and lower levels of serum insulin and C-peptide than the non-carriers. The carriers were also leaner than the non-carriers (by 5.0 kg, p=0.012, and by 2.1 kg/m2 units of BMI, p=2.2 × 10−4, using the first adult measurements) and, possibly as a result of insulin deficiency, demonstrated higher lipolytic activity (with medians of NEFA at fasting 621 vs 441 μmol/l, p=0.0039; at 120 min during an OGTT 117 vs 64 μmol/l, p=3.1 × 10−5). Conclusions/interpretation: The most common causal variant of HNF1A-MODY, p.(Gly292fs), presents not only with hyperglycaemia and insulin deficiency, but also with increased lipolysis and markedly lower adult BMI. Serum insulin was more discriminative than C-peptide between carriers and non-carriers. A considerable proportion of carriers develop diabetes after young adulthood. Even among individuals with a monogenic form of diabetes, polygenic risk of diabetes modifies the age at onset of diabetes. Graphical abstract: [Figure not available: see fulltext.].
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| 3. |
- Kokko, S., et al.
(författare)
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Mapping the methodologies of the craft sciences in Finland, Sweden and Norway
- 2020
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Ingår i: Craft Research. - : Intellect. - 2040-4689. ; 11:2, s. 177-209
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Tidskriftsartikel (refereegranskat)abstract
- The craft sciences have emerged as a field of academic research in Finland, Sweden and Norway since the early 1990s. In Finland, craft research has examined various aspects of crafts using a multidisciplinary approach, adapting a range of methods from other academic disciplines according to the research topic. Another source has been the schools of domestic sciences in which craft research has been a recognized field. In Sweden and Norway, craft research has developed strongly in architectural conservation and cultural heritage with a focus on traditional craftsmanship and the performative elements of intangible cultural heritage. This article offers an overview of the developments and progress of the field of craft sciences in these countries, including its methodological approaches, with a focus on Ph.D. theses. Through mapping recurrent methodological approaches, the following categories were derived: craft reconstruction, craft interpretations, craft elicitation, craft amplification and craft socialization. The aim of the classifica-tion, and the model derived from it, is to help researchers and students understand better how different types of knowledge relate to different research methods and apply them within their own research. The purpose of the research is to create a common infrastructure for research and education in order to connect and strengthen the dispersed academic communities of craft research and to establish craft science as a formally recognized discipline within the academic system. © 2020, Intellect Ltd. All rights reserved.
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