A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940 individuals with familial colorectal tumor (627 CRC, 313 advanced adenomas) and 965 controls. We evaluated selected SNPs in three replication sample sets (7,473 cas...

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Veröffentlicht in:	Nature genetics 2007-11, Vol.39 (11), p.1315-1317
Hauptverfasser:	Broderick, Peter, Carvajal-Carmona, Luis, Pittman, Alan M, Webb, Emily, Howarth, Kimberley, Rowan, Andrew, Lubbe, Steven, Spain, Sarah, Sullivan, Kate, Fielding, Sarah, Jaeger, Emma, Vijayakrishnan, Jayaram, Kemp, Zoe, Gorman, Maggie, Chandler, Ian, Papaemmanuil, Elli, Penegar, Steven, Wood, Wendy, Sellick, Gabrielle, Qureshi, Mobshra, Teixeira, Ana, Domingo, Enric, Barclay, Ella, Martin, Lynn, Sieber, Oliver, Kerr, David, Gray, Richard, Peto, Julian, Cazier, Jean-Baptiste, Tomlinson, Ian, Houlston, Richard S
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Alleles Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Case-Control Studies Colorectal cancer Colorectal carcinoma Colorectal Neoplasms - genetics Diagnosis Fundamental and applied biological sciences. Psychology Gastroenterology. Liver. Pancreas. Abdomen Gene Function Genetic aspects Genetic Linkage Genetic Predisposition to Disease Genetic research Genetics of eukaryotes. Biological and molecular evolution Genome, Human Genomics Genotype Genotype & phenotype Health risks Human Genetics Humans Identification and classification Medical sciences Physiological aspects Polymorphism, Single Nucleotide Risk Factors Single nucleotide polymorphisms Smad7 Protein - genetics Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors
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Zusammenfassung:	To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940 individuals with familial colorectal tumor (627 CRC, 313 advanced adenomas) and 965 controls. We evaluated selected SNPs in three replication sample sets (7,473 cases, 5,984 controls) and identified three SNPs in SMAD7 (involved in TGF-β and Wnt signaling) associated with CRC. Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant ( P trend = 1.0 × 10 −12 ).
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng.2007.18