| 1. |
- Ahlqvist, Emma, et al.
(författare)
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The genetics of type 2 diabetes
- 2015. - 4th
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Ingår i: International Textbook of Diabetes Mellitus. - : Wiley. - 9780470658611 - 9781118387658 ; , s. 401-412
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Bokkapitel (refereegranskat)
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| 2. |
- Grant, Struan F A, et al.
(författare)
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Transcription factor 7-like 2 (TCF7L2)
- 2016
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Ingår i: The Genetics of Type 2 Diabetes and Related Traits: Biology, Physiology and Translation. - Cham : Springer International Publishing. - 9783319015743 - 9783319015736 ; , s. 297-316
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Bokkapitel (refereegranskat)abstract
- In 2006 a genetic signal within the gene encoding transcription factor 7-like 2 (TCF7L2) was first reported to be associated with type 2 diabetes. Since then multiple genome-wide association studies have revealed this signal to be among the most strongest associations reported with this disease to date. Furthermore, multiple studies around the world have revealed the global relevance of this locus in intron 3 of the gene and have helped pinpoint, with relative confidence, the causal lesion at this locus. However, despite this association being beyond doubt, there is still a lack of consensus with respect to mechanisms of action and which tissue(s) it actually exerts its influence on the pathogenesis of type 2 diabetes.
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| 3. |
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| 4. |
- Prasad, Rashmi, et al.
(författare)
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Genetics of Diabetes and Diabetic Complications
- 2018
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Ingår i: Diabetes. Epidemiology, Genetics, Pathogenesis, Diagnosis, Prevention, and Treatment. - Cham : Springer International Publishing. - 2510-1927. - 9783319273174
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Bokkapitel (refereegranskat)abstract
- Diabetes is a collection of diseases characterized by defective glucose homeostasis. Different diabetes types have different etiologies and their genetic architecture ranges from highly penetrant monogenetic diseases, such as MODY and neonatal diabetes, to polygenic diseases, such as type 1 and type 2 diabetes that are caused by numerous genetic variants adding up to the individual risk. While both diabetes and diabetic complications have been known to be partly heritable for a long time, identification of risk variants was originally limited to a few variants with relatively modest effect sizes. This changed with the advent of genome-wide association studies (GWAS), which has led to the identification of hundreds of common risk variants for diabetes. Still, these variants only explain part of the heritability of complex diabetes types. Further technical development in the field, such as next-generation sequencing, has recently enabled identification of rare variants. Epigenetics, epistasis, gene-environment interactions, parent-of-origin effects, and noncoding RNAs are current research areas that provide additional layers to the genetic architecture and might reveal some of the missing heritability. In this chapter, we review the genetic basis of different diabetes types and diabetic complications and the major methodological milestones that have enabled the many success stories of the last decade.
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