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Discovery of common and rare genetic risk variants for colorectal cancer
Nature genetics, 2019-01, Vol.51 (1), p.76-87
2019

Details

Autor(en) / Beteiligte
Titel
Discovery of common and rare genetic risk variants for colorectal cancer
Ist Teil von
  • Nature genetics, 2019-01, Vol.51 (1), p.76-87
Ort / Verlag
United States: Nature Publishing Group
Erscheinungsjahr
2019
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
  • 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 × 10 , bringing the number of known independent signals for CRC to ~100. New signals implicate lower-frequency variants, Krüppel-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.
Sprache
Englisch
Identifikatoren
ISSN: 1061-4036, 1546-1718
eISSN: 1546-1718
DOI: 10.1038/s41588-018-0286-6
Titel-ID: cdi_wageningen_narcis_oai_library_wur_nl_wurpubs_544945
Format
–
Schlagworte
Aged, Cancer, Case-Control Studies, Chair Nutrition and Health over the Lifecourse, Colorectal cancer, Colorectal carcinoma, Colorectal Neoplasms - genetics, Consortia, DNA sequencing, Drug development, Epidemiology, Etiology (Medicine), Female, Gastroenterology, Gene expression, Gene sequencing, Genetic aspects, Genetic Predisposition to Disease - genetics, Genetic research, Genetic variation, Genetics, Genome-Wide Association Study - methods, Genomes, Genomics, Genotype, Global Nutrition, Haplotypes, Health risks, Hedgehog protein, Heritability, HNE Nutrition and Health over the Lifecourse, HNE Voeding en Gezondheid in de Levenscyclus, Humans, Immune response, Life Sciences, Male, Medical schools, Medicin och hälsovetenskap, Meta-analysis, Middle Aged, Mutation, Nucleotide sequence, Polymorphism, Single Nucleotide - genetics, Risk, Risk Factors, RNA, Long Noncoding - genetics, Santé publique et épidémiologie, Signal Transduction - genetics, Signaling, Studies, Systematic review, VLAG, Wereldvoeding, Yes-associated protein

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