2. |
- Huyghe, Jeroen R., et al.
(författare)
-
Discovery of common and rare genetic risk variants for colorectal cancer
- 2019
-
Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:1, s. 76-
-
Tidskriftsartikel (refereegranskat)abstract
- To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 x 10(-8), bringing the number of known independent signals for CRC to similar to 100. New signals implicate lower-frequency variants, Kruppel-like factors, Hedgehog signaling, Hippo-YAP signaling, long noncoding RNAs and somatic drivers, and support a role for immune function. Heritability analyses suggest that CRC risk is highly polygenic, and larger, more comprehensive studies enabling rare variant analysis will improve understanding of biology underlying this risk and influence personalized screening strategies and drug development.
|
|
3. |
- Ring, Irene, et al.
(författare)
-
Chapter 6: Options for governance and decision-making across scales and sectors
- 2018
-
Ingår i: IPBES. - Bonn : Secretariat of the Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem services. - 9783947851089 ; , s. 661-802
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Within the generic scope of the Regional Assessments of Biodiversity and Ecosystem Services, the key policy‑relevant questions of the Europe and Central Asia Assessment concern options and opportunities with regard to biodiversity and ecosystem services and their role for human well-being. The assessment examines the opportunities for sectoral policies and policy instruments; managing production, consumption and economic development; and ecological infrastructures and ecological technologies. It explores opportunities to promote food security, economic development and equality while avoiding land and aquatic degradation and conserving cultural landscapes.
|
|