| 11. |
- Saxena, Richa, et al.
(författare)
-
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge
- 2010
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:2, s. 142-148
-
Tidskriftsartikel (refereegranskat)abstract
- Glucose levels 2 h after an oral glucose challenge are a clinical measure of glucose tolerance used in the diagnosis of type 2 diabetes. We report a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals) and a follow-up of 29 independent loci (n = 6,958–30,620). We identify variants at the GIPR locus associated with 2-h glucose level (rs10423928, β (s.e.m.) = 0.09 (0.01) mmol/l per A allele, P = 2.0 × 10−15). The GIPR A-allele carriers also showed decreased insulin secretion (n = 22,492; insulinogenic index, P = 1.0 × 10−17; ratio of insulin to glucose area under the curve, P = 1.3 × 10−16) and diminished incretin effect (n = 804; P = 4.3 × 10−4). We also identified variants at ADCY5 (rs2877716, P = 4.2 × 10−16), VPS13C (rs17271305, P = 4.1 × 10−8), GCKR (rs1260326, P = 7.1 × 10−11) and TCF7L2 (rs7903146, P = 4.2 × 10−10) associated with 2-h glucose. Of the three newly implicated loci (GIPR, ADCY5 and VPS13C), only ADCY5 was found to be associated with type 2 diabetes in collaborating studies (n = 35,869 cases, 89,798 controls, OR = 1.12, 95% CI 1.09–1.15, P = 4.8 × 10−18).
|
|
| 12. |
- Schumann, Gunter, et al.
(författare)
-
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption
- 2011
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 108:17, s. 7119-7124
-
Tidskriftsartikel (refereegranskat)abstract
- Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of similar to 2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 x 10(-8) to P = 4 x 10(-9)). We found a genotype-specific expression of AUTS2 in 96 human prefrontal cortex samples (P = 0.026) and significant (P < 0.017) differences in expression of AUTS2 in whole-brain extracts of mice selected for differences in voluntary alcohol consumption. Downregulation of an AUTS2 homolog caused reduced alcohol sensitivity in Drosophila (P < 0.001). Our finding of a regulator of alcohol consumption adds knowledge to our understanding of genetic mechanisms influencing alcohol drinking behavior.
|
|
| 13. |
- Agirre, J. A., et al.
(författare)
-
The VALU3S ECSEL project : Verification and validation of automated systems safety and security
- 2021
-
Ingår i: Microprocessors and microsystems. - : Elsevier BV. - 0141-9331 .- 1872-9436. ; 87, s. 104349-
-
Tidskriftsartikel (refereegranskat)abstract
- Manufacturers of automated systems and their components have been allocating an enormous amount of time and effort in R&D activities, which led to the availability of prototypes demonstrating new capabilities as well as the introduction of such systems to the market within different domains. Manufacturers need to make sure that the systems function in the intended way and according to specifications. This is not a trivial task as system complexity rises dramatically the more integrated and interconnected these systems become with the addition of automated functionality and features to them. This effort translates into an overhead on the V&V (verification and validation) process making it time-consuming and costly. In this paper, we present VALU3S, an ECSEL JU (joint undertaking) project that aims to evaluate the state-of-the-art V&V methods and tools, and design a multi-domain framework to create a clear structure around the components and elements needed to conduct the V&V process. The main expected benefit of the framework is to reduce time and cost needed to verify and validate automated systems with respect to safety, cyber-security, and privacy requirements. This is done through identification and classification of evaluation methods, tools, environments and concepts for V&V of automated systems with respect to the mentioned requirements. VALU3S will provide guidelines to the V&V community including engineers and researchers on how the V&V of automated systems could be improved considering the cost, time and effort of conducting V&V processes. To this end, VALU3S brings together a consortium with partners from 10 different countries, amounting to a mix of 25 industrial partners, 6 leading research institutes, and 10 universities to reach the project goal.
|
|
| 14. |
|
|
