Discovery of common and rare genetic risk variants for colorectal cancer
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F19%3A00518235" target="_blank" >RIV/68378041:_____/19:00518235 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10392338 RIV/00216208:11140/19:10392338
Result on the web
<a href="https://www.nature.com/articles/s41588-018-0286-6" target="_blank" >https://www.nature.com/articles/s41588-018-0286-6</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41588-018-0286-6" target="_blank" >10.1038/s41588-018-0286-6</a>
Alternative languages
Result language
angličtina
Original language name
Discovery of common and rare genetic risk variants for colorectal cancer
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
<a href="/en/project/LO1503" target="_blank" >LO1503: BIOMEDIC</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nature Genetics
ISSN
1061-4036
e-ISSN
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Volume of the periodical
51
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
24
Pages from-to
76-99
UT code for WoS article
000454108800015
EID of the result in the Scopus database
2-s2.0-85058017067